4,027 results match your criteria Hypercalciuria


Urinary Abnormalities in Children and Adolescents with Wilson Disease Before and During Treatment with D-Penicillamine.

J Gastroenterol Hepatol 2019 Mar 12. Epub 2019 Mar 12.

Pediatrics Departments, Cairo University, Cairo, Egypt.

Background And Aim: Renal abnormalities can occur at any time point during the course of Wilson disease (WD). We aimed to fill a literature gap in this respect by studying urinary abnormalities in children and adolescents with WD.

Methods: This study included 60 children with WD presenting to the Pediatric Hepatology Unit, Cairo University. Read More

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http://dx.doi.org/10.1111/jgh.14653DOI Listing
March 2019
1 Read

Vitamin D Supplementation and Risk of Hypercalciuria in Stone Formers.

Iran J Kidney Dis 2019 Jan;13(1):27-31

Department of Nephrology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Whether administrating of vitamin D supplements increases the risk of hypercalciuria is still unanswered. The aim of the present study was to determine whether use of vitamin D supplementation might increase the risk of hypercalciuria.

Methods And Materials: This interventional study was conducted on 30 who suffered from vitamin D insufficiency and deficiency and also had a history of nephrolithiasis. Read More

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January 2019
2 Reads

Vitamin D metabolism in dogs with and without hypercalciuric calcium oxalate urolithiasis.

J Vet Intern Med 2019 Mar 9. Epub 2019 Mar 9.

Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, Minnesota.

Background: There are abnormalities in vitamin D metabolism in people with calcium nephrolithiasis, but limited data are available on vitamin D status in dogs with calcium oxalate (CaOx) urolithiasis.

Objective: To compare serum concentrations of vitamin D metabolites in dogs with and without hypercalciuric CaOx urolithiasis.

Animals: Thirty-eight dogs with (n = 19) and without (n = 19) a history of CaOx urolithiasis and hypercalciuria. Read More

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http://dx.doi.org/10.1111/jvim.15442DOI Listing
March 2019
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Impact of three different daily doses of vitamin D3 supplementation in healthy schoolchildren and adolescents from North India: a single-blind prospective randomised clinical trial.

Br J Nutr 2019 Mar;121(5):538-548

9Central Council of Homeopathic Research,Ministry of Ayush,New Delhi 110023,India.

In India, there is a lack of information about the adequate daily dose of vitamin D3 supplementation in school children. Hence, we undertook this study to evaluate the adequacy and efficacy of different doses of vitamin D3 in schoolchildren. A total of 1008 vitamin D-deficient (VDD) children, aged 6-16 years with serum 25-hydroxyvitamin D (25(OH)D) levels <50nmol/l, were cluster randomised into three groups (A-344, B-341 and C-232) for supplementation (600, 1000 and 2000 IU daily) of vitamin D3 under supervision for 6 months. Read More

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http://dx.doi.org/10.1017/S0007114518003690DOI Listing
March 2019
2 Reads

Underlying Role of Brushite in Pathological Mineralization of Hydroxyapatite.

J Phys Chem B 2019 Mar 14. Epub 2019 Mar 14.

Institut für Mineralogie , University of Münster , Münster 48149 , Germany.

The majority of human kidney stones are composed of multiple calcium oxalate crystals with variable amounts of brushite [dicalcium phosphate dihydrate (DCPD)] and hydroxyapatite (HAP) as a nucleus, in which fluid-mediated dissolution and reprecipitation may result in the phase transformation of DCPD to HAP. However, the underlying mechanisms of the phase transition and its modulation by natural inhibitors, such as osteopontin (OPN) proteins, remain poorly understood. Here, the in vitro formation of new phases on the DCPD (010) surface is observed in situ using atomic force microscopy in a simulated hypercalciuria milieu. Read More

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http://dx.doi.org/10.1021/acs.jpcb.9b00728DOI Listing
March 2019
2 Reads

Paracellular calcium transport in the proximal tubule and the formation of kidney stones.

Am J Physiol Renal Physiol 2019 Mar 6. Epub 2019 Mar 6.

Division of Nephrology and Hypertension and the Kidney Institute, University of Kansas Medical Center, United States.

The proximal tubule (PT) is responsible for the majority of calcium reabsorption by the kidney. Most PT calcium transport appears to be passive, although the molecular facilitators have not been well-established. Emerging evidence supports a major role for PT calcium transport in idiopathic hypercalciuria and the development of kidney stones. Read More

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http://dx.doi.org/10.1152/ajprenal.00519.2018DOI Listing
March 2019
2 Reads

Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.

Indian J Nephrol 2019 Jan-Feb;29(1):57-61

Department of Nephrology, Apollo Hospitals, Chennai, Tamil Nadu, India.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in genes coding for tight junction proteins claudin-16 and claudin-19. It is characterized by renal wasting of magnesium and calcium associated with the development of nephrocalcinosis and renal stones by early childhood. Most of them progress to end-stage renal failure by the second or third decade. Read More

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http://www.indianjnephrol.org/preprintarticle.asp?id=248822
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http://dx.doi.org/10.4103/ijn.IJN_323_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375017PMC
March 2019
2 Reads

Is calcium supplementation always needed in patients with hypoparathyroidism?

Clin Endocrinol (Oxf) 2019 Feb 23. Epub 2019 Feb 23.

The Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Oral calcium salts are recommended for the treatment of chronic hypoparathyroidism (HypoPT), although dosimetry is variable between individual patients and clinicians. However, patient feedback on calcium salts can be negative, particularly due to gastrointestinal side-effects and hypercalciuria-related complications. We begin with a clinical case of a HypoPT patient taking oral calcium salts following thyroid surgery, who requested support in reducing her dose of these with a view to stopping entirely. Read More

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http://dx.doi.org/10.1111/cen.13955DOI Listing
February 2019
2 Reads

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.

Urolithiasis 2019 Feb 23. Epub 2019 Feb 23.

Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Liebigstr. 20, 04103, Leipzig, Germany.

Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tubules. Substitution of p. Read More

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http://dx.doi.org/10.1007/s00240-019-01116-2DOI Listing
February 2019
1 Read

Impact of two oral doses of 100,000 IU of vitamin D in preschoolers with viral-induced asthma: a pilot randomised controlled trial.

Trials 2019 Feb 18;20(1):138. Epub 2019 Feb 18.

Clinical Research and Knowledge Transfer Unit on Childhood Asthma, Research Centre, Sainte-Justine University Health Centre, Montreal, Quebec, Canada.

Background: New evidence supports the use of supplemental vitamin D in the prevention of exacerbation of asthma; however, the optimal posology to sufficiently raise serum levels while maximising adherence is unclear. The objective was to ascertain the efficacy of high-dose vitamin D in increasing serum vitamin D in preschoolers with asthma and provide preliminary data on safety and efficacy outcomes.

Methods: We conducted a 7-month, triple-blind, randomised, placebo-controlled, pilot trial of children aged 1-5 years with viral-induced asthma. Read More

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http://dx.doi.org/10.1186/s13063-019-3184-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379931PMC
February 2019
1 Read

Efficacy and Safety of 90,000 IU versus 300,000 IU Single Dose Oral Vitamin D in Nutritional Rickets: A Randomized Controlled Trial.

Indian J Endocrinol Metab 2018 Nov-Dec;22(6):760-765

Department of Radiology, Chacha Nehru Bal Chikitsalaya, Geeta Colony, New Delhi, India.

Aim: To compare efficacy and safety of 90,000 IU versus 300,000 IU oral single dose vitamin D for treatment of nutritional rickets.

Study Design: Randomized controlled trial.

Setting: Tertiary care hospital. Read More

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http://dx.doi.org/10.4103/ijem.IJEM_84_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330863PMC
February 2019
1 Read

Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.

Am J Kidney Dis 2019 Feb 11. Epub 2019 Feb 11.

Centre de Référence des Maladies Rénales Rares, filière ORKID, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR; Faculté de Médecine Lyon Est, Université Lyon 1, Lyon; INSERM 1033, Prévention des Maladies Osseuses, Lyon, France. Electronic address:

Mutations in the SLC34A3 gene, encoding the sodium/phosphate cotransporter 2C (NPTIIc), induce decreased renal phosphate reabsorption, hypophosphatemia, decreased fibroblast growth factor 23 and parathyroid hormone, and increased 1,25-dihydroxyvitamin D (1,25[OH]D) levels. The complete phenotype is characterized by hypophosphatemia, hypercalciuria, and nephrolithiasis/nephrocalcinosis, leading to chronic kidney disease and osteoporosis in adults. We report a 15-year-old boy referred for nephrocalcinosis. Read More

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http://dx.doi.org/10.1053/j.ajkd.2018.12.026DOI Listing
February 2019
1 Read

Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

Medicine (Baltimore) 2019 Feb;98(7):e14529

Department of Pediatric Nephrology.

Rationale: Medullary sponge kidney (MSK) is a rare congenital abnormality characterized by cystic dilatation of the medullary collecting tubules. The disorder is likely to be complicated by nephrocalcinosis, urolithiasis, tubular dysfunctions, and urinary tract infections. In addition, it may be rarely associated with extrarenal anomalies. Read More

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http://dx.doi.org/10.1097/MD.0000000000014529DOI Listing
February 2019
2 Reads

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019
1 Read

Osteomalacia in a Case of Adult-Onset Bartter Syndrome.

Eur J Case Rep Intern Med 2018 21;5(3):000764. Epub 2018 Mar 21.

Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan.

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia. Read More

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http://dx.doi.org/10.12890/2018_000764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346954PMC
March 2018
1 Read

[Recurrence prevention for urinary stone disease. Part II.The factors associated with increase in incidence of urinary stone disease. Current views on the mechanisms of stone formation (continuation)].

Urologiia 2018 Dec(6):131-138

FGAOU VO I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

Urinary stone disease is one of the most actively progressing diseases, which are associated with metabolic disturbances and are influenced by the genetic, environmental factors and lifestyle \. In the article the current views on initiation factors of stone formation and theories of stone formation are reviewed. The factors that play an important role in the activation and inhibition of nucleation and aggregation of stone-forming substances are discussed. Read More

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December 2018
2 Reads

Effect of vitamin D supplementation on 24-hour urine calcium in patients with calcium Urolithiasis and vitamin D deficiency.

Int Braz J Urol 2019 Jan 15;45. Epub 2019 Jan 15.

Urology and Nephrology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Purpose: Hypercalciuria is one of the risk factors for calcium kidney stone formation (the most common type of urinary stones). Although vitamin D deficiency is prevalent among urolithiasis patients, the effect of vitamin D supplementation on urine calcium in these patients is still unclear.

Materials And Methods: In this retrospective study, medical and laboratory tests records of 26 patients with recurrent calcium kidney stones and vitamin D deficiency treated with 50000IU vitamin D per week for 8-12 weeks were analyzed. Read More

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http://dx.doi.org/10.1590/S1677-5538.IBJU.2018.0522DOI Listing
January 2019
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Association between dietary pattern and metabolic disorders in children and adolescents with urolithiasis.

J Pediatr (Rio J) 2019 Feb 5. Epub 2019 Feb 5.

Universidade Federal de Santa Catarina (UFSC), Centro de Ciências da Saúde, Departamento de Pediatria, Florianópolis, SC, Brazil; Universidade Federal de Santa Catarina (UFSC), Florianópolis, SC, Brazil; Hospital Infantil Joana de Gusmão, Unidades de Nefrologia Pediátrica e de Terapia Intensiva, Florianópolis, SC, Brazil Received 31 August 2018; accepted 31 October 2018. Electronic address:

Objective: To describe the dietary patterns and occurrence of metabolic disorders in children and adolescents with urolithiasis treatment at a referral hospital in southern Brazil in order to learn the features of urolithiasis in this population to better develop preventive actions.

Methods: Descriptive study conducted between 2016 and 2017 in a tertiary care referral hospital. Fourty patients aged 2-19 years old with urolithiasis proven by imaging were included. Read More

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http://dx.doi.org/10.1016/j.jped.2018.11.008DOI Listing
February 2019
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Three Sisters With Heterozygous Gene Variants of Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia.

J Endocr Soc 2019 Feb 17;3(2):387-396. Epub 2018 Dec 17.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Gene variants of , which encodes the enzyme 24-hydroxylase, are a most unusual cause of maternal hypercalcemia. Loss-of-function mutations in result in impaired dehydroxylation of active vitamin D (calcitriol). Secondary to this hypercalcemia, hypercalciuria and suppressed parathyroid hormone (P-PTH) can develop. Read More

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http://dx.doi.org/10.1210/js.2018-00337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356119PMC
February 2019
4 Reads

Meeting report of the "Symposium on kidney stones and mineral metabolism: calcium kidney stones in 2017".

J Nephrol 2019 Jan 24. Epub 2019 Jan 24.

Department of Internal Medicine, and Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, TX, USA.

A symposium on kidney stones and mineral metabolism held on December 2017 in Brussels, Belgium was the first international multidisciplinary conference of the International Collaborative Network on Kidney Stones and Mineral Metabolism. This meeting addressed epidemiology, underlying pathophysiological mechanisms, genetics, pathological, as well as clinical and research topics. The participants included clinicians and recognized experts in the field from Europe and the United States interacted closely during the symposium which promoted a chance to explore new frontiers in the field of kidney stone disease. Read More

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http://dx.doi.org/10.1007/s40620-019-00587-1DOI Listing
January 2019
2 Reads

Daily Green Tea Infusions in Hypercalciuric Renal Stone Patients: No Evidence for Increased Stone Risk Factors or Oxalate-Dependent Stones.

Nutrients 2019 Jan 24;11(2). Epub 2019 Jan 24.

Sorbonne Université, Service d'Explorations Fonctionnelles Multidisciplinaires, AP-HP, Hôpital Tenon, 75020 Paris, France.

Green tea is widely used as a ''healthy'' beverage due to its high level of antioxidant polyphenol compounds. However tea is also known to contain significant amount of oxalate. The objective was to determine, in a cross-sectional observational study among a population of 273 hypercalciuric stone-formers referred to our center for metabolic evaluation, whether daily green tea drinkers ( = 41) experienced increased stone risk factors (especially for oxalate) compared to non-drinkers. Read More

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http://dx.doi.org/10.3390/nu11020256DOI Listing
January 2019
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The Demographic Diversity of Food Intake and Prevalence of Kidney Stone Diseases in the Indian Continent.

Foods 2019 Jan 21;8(1). Epub 2019 Jan 21.

Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India.

Food intake plays a pivotal role in human growth, constituting 45% of the global economy and wellbeing in general. The consumption of a balanced diet is essential for overall good health, and a lack of equilibrium can lead to malnutrition, prenatal death, obesity, osteoporosis and bone fractures, coronary heart diseases (CHD), idiopathic hypercalciuria, diabetes, and many other conditions. CHD, osteoporosis, malnutrition, and obesity are extensively discussed in the literature, although there are fragmented findings in the realm of kidney stone diseases (KSD) and their correlation with food intake. Read More

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http://www.mdpi.com/2304-8158/8/1/37
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http://dx.doi.org/10.3390/foods8010037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352122PMC
January 2019
5 Reads

Classical complications of primary hyperparathyroidism.

Best Pract Res Clin Endocrinol Metab 2018 12 12;32(6):791-803. Epub 2018 Sep 12.

Columbia University Medical College of Physicians & Surgeons, New York, USA. Electronic address:

Traditionally, classical complications of primary hyperparathyroidism are mainly represented by skeletal, kidney and gastrointestinal involvement. The old picture of osteitis fibrosa cystica is no longer commonly seen, at least in the western world. However, new imagining techniques have highlighted deterioration of skeletal tissue in patients with primary hyperparathyroidism not captured by traditional DXA measurement. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X183010
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http://dx.doi.org/10.1016/j.beem.2018.09.001DOI Listing
December 2018
5 Reads

Serum and urinary calcium level in Latvian patients with sarcoidosis.

Reumatologia 2018 23;56(6):377-381. Epub 2018 Dec 23.

Department of Continuing Education, Riga Eastern Clinical University Hospital, Latvia.

Objectives: Sarcoidosis is a multisystem granulomatous disease of unknown etiology that in 90% of cases affects the lungs. Calcium metabolism testing can be useful in diagnostics. The aim of the study was to assess the correlation between calcium metabolism and sarcoidosis form of manifestation/demographic indicators. Read More

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http://dx.doi.org/10.5114/reum.2018.80715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330682PMC
December 2018
1 Read

Bone resorption in dogs with calcium oxalate urolithiasis and idiopathic hypercalciuria.

Res Vet Sci 2019 Jan 4;123:129-134. Epub 2019 Jan 4.

Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, United States. Electronic address:

People with calcium oxalate (CaOx) urolithiasis and idiopathic hypercalciuria (IH) often have evidence of increased bone resorption, but bone turnover has not previously been investigated in dogs with these conditions. The aim of this study was to determine whether a marker of bone resorption, β-crosslaps, differs between dogs with CaOx urolithiasis and IH compared to controls. This retrospective, cross-sectional study used a canine specific ELISA to measure β-crosslaps concentrations in stored frozen serum samples from 20 dogs with CaOx urolithiasis and IH and 20 breed-, sex-, and age-matched stone-free controls (18 Miniature Schnauzers, 14 Bichons Frise, and 8 Shih Tzus). Read More

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http://dx.doi.org/10.1016/j.rvsc.2019.01.001DOI Listing
January 2019
1 Read

Vitamin D and Calcium Homeostasis in Infants with Urolithiasis.

Adv Exp Med Biol 2019 ;1133:75-81

Department of Pediatrics and Nephrology, Warsaw Medical University, Warsaw, Poland.

The incidence of urolithiasis in infants is unknown. The aim of this study was to investigate clinical characteristics, nutrition, calcium, phosphate, 25-hydroxyvitamin D (25(OH)D), alkaline phosphate, and parathyroid hormone in infants with urolithiasis. There were 32 infants (23 boys and 9 girls) of the mean age of 6. Read More

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http://link.springer.com/10.1007/5584_2018_310
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http://dx.doi.org/10.1007/5584_2018_310DOI Listing
January 2019
5 Reads

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.

BMC Med Genet 2019 Jan 8;20(1). Epub 2019 Jan 8.

Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Carretera del Rosario 145, 38010, Santa Cruz de Tenerife, Spain.

Background: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and progressive chronic renal failure. This rare disease is caused by mutations in CLDN16 that encodes claudin-16, a tight-junction protein involved in paracellular reabsorption of magnesium and calcium in the renal tubule. Most of these variants are located in exons and have been classified as missense mutations. Read More

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http://dx.doi.org/10.1186/s12881-018-0713-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325764PMC
January 2019
2 Reads

Auditing the Efficacy and Safety of Alfacalcidol and Calcium Therapy in Idiopathic Hypoparathyroidism.

J Clin Endocrinol Metab 2019 Apr;104(4):1325-1335

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

Context: Patients with hypoparathyroidism are treated with vitamin D and calcium. PTH is an emerging option because of its physiological action. It is important to assess the efficacy and shortcomings of conventional therapy. Read More

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http://dx.doi.org/10.1210/jc.2018-02228DOI Listing
April 2019
3 Reads

Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones.

Pediatr Nephrol 2019 Jan 4. Epub 2019 Jan 4.

Department of Pediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, N6A 5W9, Canada.

Background: The incidence of nephrolithiasis in children and adolescents is increasing and appears to double every 10 years. The most important role of the pediatric nephrologist is to diagnose and modify various metabolic and non-metabolic risk factors, as well as prevent long-term complications especially in the case of recurrent nephrolithiasis.

Objective: The purpose of this review is to summarize the existing literature on the etiology and management of pediatric nephrolithiasis. Read More

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http://dx.doi.org/10.1007/s00467-018-4179-9DOI Listing
January 2019
8 Reads

Juvenile onset IIH and mutations.

Bone Rep 2018 Dec 21;9:42-46. Epub 2018 Jun 21.

Department of General Pediatrics, University Children's Hospital, Münster, Germany.

The term Idiopathic infantile hypercalcemia (IIH) was first introduced almost 70 years ago when symptomatic hypercalcemia developed in children after receiving high doses of vitamin D for the prevention of rickets. The underlying pathophysiology remained unknown until recessive mutations in encoding Vitamin D-24-hydroxylase were discovered. The defect in vitamin D degradation leads to an accumulation of active 1,25(OH)D with subsequent hypercalcemia. Read More

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http://dx.doi.org/10.1016/j.bonr.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303532PMC
December 2018
3 Reads

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Authors:
Toru Watanabe

Pediatric Health Med Ther 2018 12;9:181-190. Epub 2018 Dec 12.

Department of Pediatrics, Niigata City General Hospital, Niigata City 950-1197, Japan,

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Read More

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https://www.dovepress.com/improving-outcomes-for-patients-wi
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http://dx.doi.org/10.2147/PHMT.S174459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296208PMC
December 2018
8 Reads

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports.

Front Med (Lausanne) 2018 7;5:347. Epub 2018 Dec 7.

Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 () gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may manifest only asymptomatic LMW proteinuria, which increases the difficulty of early diagnosis. Read More

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http://dx.doi.org/10.3389/fmed.2018.00347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292867PMC
December 2018
2 Reads

Association Between Vitamin D Deficiencies in Sarcoidosis with Disease Activity, Course of Disease and Stages of Lung Involvements.

J Med Biochem 2018 Apr 1;37(2):103-109. Epub 2018 Apr 1.

Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Despite negative association between 25-hydroxy vitamin D and incidence of many chronic respiratory diseases, this feature was not well studied in sarcoidosis. Current study investigated the association between 25-hydroxy vitamin D deficiency with sarcoidosis chronicity, disease activity, extra-pulmonary skin manifestations, urine calcium level and pulmonary function status in Iranian sarcoidosis patients. Results of this study along with future studies, will supply more effective programs for sarcoidosis treatment. Read More

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http://dx.doi.org/10.1515/jomb-2017-0041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294100PMC
April 2018
2 Reads

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Gene 2019 Mar 18;689:227-234. Epub 2018 Dec 18.

Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. Electronic address:

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in childhood or adolescence. The disease is caused by mutations in the tight-junction proteins claudin-16 and claudin-19 that are encoded by the CLDN16 and CLDN19 genes, respectively. Patients with CLDN19 mutations also are affected with severe ocular abnormalities. Read More

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http://dx.doi.org/10.1016/j.gene.2018.12.024DOI Listing
March 2019
2 Reads

Urinary proteome in inherited nephrolithiasis.

Urolithiasis 2019 Feb 18;47(1):91-98. Epub 2018 Dec 18.

Chair of Nephrology, Department of Translational Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

In the last decades, proteomics has been largely applied to the Nephrology field, with the double aim to (1) elucidate the biological processes underlying renal diseases; (2) identify disease-specific biomarkers, predictor factors of therapeutic efficacy and prognostic factors of disease progression. Kidney stone disease, and in particular, inherited nephrolithiasis (INL) are not an exception. Given the multifactorial origin of these disorders, the combination of genomics and proteomics studies may complement each other, with the final objective to give a global and comprehensive mechanistic view. Read More

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http://dx.doi.org/10.1007/s00240-018-01104-yDOI Listing
February 2019
2 Reads

Enhanced remedial effects for vitamin D and calcium co-supplementation against pre-existing lead nephrotoxicity in mice: The roles of renal calcium homeostatic molecules.

Biochim Biophys Acta Mol Basis Dis 2019 Feb 12;1865(2):512-524. Epub 2018 Dec 12.

Laboratory Medicine Department, Faculty of Applied Medical Sciences, Umm Al-Qura University, Al Abdeyah, PO Box 7607, Makkah, Saudi Arabia. Electronic address:

Background: Lead (Pb) is a toxic heavy metal and nephropathy is common with chronic exposure. Although vitamin D (VD) and calcium (Ca) showed promising protections, their co-administration was not previously investigated in Pb nephrotoxicity. This study measured the potential interactions and remedial effects of VD and/or Ca on established Pb nephropathy. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.11.023DOI Listing
February 2019
7 Reads

Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.

Pflugers Arch 2019 Jan 13;471(1):137-148. Epub 2018 Dec 13.

Institute of Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

The Na-dependent phosphate transporter NaPi-IIa (SLC34A1) is mostly expressed in kidney, whereas NaPi-IIb (SLC34A2) has a wider tissue distribution with prominent expression in the lung and small intestine. NaPi-IIa is involved in renal reabsorption of inorganic phosphate (Pi) from urine, and patients with biallelic inactivating mutations in SLC34A1 develop hypophosphatemia, hypercalcemia, hypercalciuria and nephrocalcinosis, and nephrolithiasis in early childhood. Monoallelic mutations are frequent in the general population and may impact on the risk to develop kidney stones in adulthood. Read More

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http://dx.doi.org/10.1007/s00424-018-2246-5DOI Listing
January 2019
1 Read

Adverse events from large dose vitamin D supplementation taken for one year or longer.

J Steroid Biochem Mol Biol 2019 Apr 6;188:29-37. Epub 2018 Dec 6.

School of Population Health, University of Auckland, New Zealand. Electronic address:

In recent years, clinical trials increasingly have given large doses of vitamin D supplements to investigate possible health benefits beyond bone at high 25-hydroxyvitamin D levels. However, there are few publications on the safety of high-dose vitamin D given long term. The study objective was to investigate the cumulative relative risk (RR) of total adverse events, kidney stones, hypercalcemia and hypercalciuria from ≥2800 IU/d vitamin D or D supplementation, followed for one year or more in randomized controlled trials (RCTs). Read More

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http://dx.doi.org/10.1016/j.jsbmb.2018.12.002DOI Listing
April 2019
3 Reads

Urinary metabolic abnormalities in children with idiopathic hematuria.

J Pediatr Urol 2018 Nov 10. Epub 2018 Nov 10.

Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Background: Hematuria, either macroscopic or microscopic, is an incidental finding of multiple nephrologic or urologic disorders. Disturbances of urine inhibitors or promotors have been suggested as the potential causes of isolated idiopathic hematuria in children and its recurrence. Meanwhile, appropriate treatment of these risk factors might improve secondary asymptomatic or macroscopic hematuria. Read More

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http://dx.doi.org/10.1016/j.jpurol.2018.11.003DOI Listing
November 2018
4 Reads

Groundwater contamination with cadmium concentrations in some West U.P. Regions, India.

Saudi J Biol Sci 2018 Nov 10;25(7):1365-1368. Epub 2018 Jul 10.

Toxicology Laboratory, Department of Zoology, Govt. Raza P.G. College, Rampur, U.P. 244901, India.

Water is considered a vital resource because it is necessary for all aspects of human and ecosystem survival. However, due to natural processes and anthropogenic activities, various pollutants have been added to the ground water system. Among these, heavy metals are some of the most serious pollutants. Read More

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http://dx.doi.org/10.1016/j.sjbs.2018.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252039PMC
November 2018
1 Read

Effects of Altered Calcium Metabolism on Cardiac Parameters in Primary Aldosteronism.

Endocrinol Metab (Seoul) 2018 Dec;33(4):485-492

Department of Internal Medicine, Severance Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Background: Increasing evidence supports interplay between aldosterone and parathyroid hormone (PTH), which may aggravate cardiovascular complications in various heart diseases. Negative structural cardiovascular remodeling by primary aldosteronism (PA) is also suspected to be associated with changes in calcium levels. However, to date, few clinical studies have examined how changes in calcium and PTH levels influence cardiovascular outcomes in PA patients. Read More

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http://dx.doi.org/10.3803/EnM.2018.33.4.485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279903PMC
December 2018
3 Reads

Bone health among patients with primary aldosteronism: a systematic review and meta-analysis.

Minerva Endocrinol 2018 Nov 26. Epub 2018 Nov 26.

Clinical Academic Unit, Newcastle University Medicine Malaysia, Johor, Malaysia.

Background: Recent studies showed a possible association between hyperaldosteronism and secondary hyperparathyroidism leading to reduced bone health, however results are conflicting.

Methods: We conducted a meta-analysis to evaluate the relationship between primary aldosteronism (PA) with bone biochemical markers and to assess bone mineral density in patients with primary aldosteronism.

Results: A total of 939 subjects were examined (37. Read More

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http://dx.doi.org/10.23736/S0391-1977.18.02867-5DOI Listing
November 2018
3 Reads

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Urolithiasis 2019 Feb 23;47(1):115-123. Epub 2018 Nov 23.

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More

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http://dx.doi.org/10.1007/s00240-018-1092-4DOI Listing
February 2019
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Efficacy and safety of alfacalcidol in Chinese postmenopausal women aged over 65 with osteoporosis or osteopenia: An open label, non-comparative, post marketing observational study.

Medicine (Baltimore) 2018 Nov;97(47):e13159

Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science.

This study aimed to explore the therapeutic efficacy and safety of alfacalcidol among Chinese postmenopausal women (age >65 years) with osteoporosis or osteopenia.A total of 62 postmenopausal women with osteoporosis or osteopenia (>65 years) were recruited from urban residential community of Beijing. The patients daily took oral calcium and alfacalcidol (Alpha D3, 1 μg) for 9 months. Read More

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http://dx.doi.org/10.1097/MD.0000000000013159DOI Listing
November 2018
23 Reads

Update on Dent Disease.

Pediatr Clin North Am 2019 02;66(1):169-178

Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Read More

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http://dx.doi.org/10.1016/j.pcl.2018.09.003DOI Listing
February 2019
9 Reads

Approach to the Child with Hematuria.

Pediatr Clin North Am 2019 02;66(1):15-30

Pediatric Nephrology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, 3415 Bainbridge Avenue, Bronx, NY 10467, USA. Electronic address:

The causes of macroscopic and microscopic hematuria overlap; both are often caused by urinary tract infections or urethral/bladder irritation. Coexistent hypertension and proteinuria should prompt investigation for glomerular disease. The most common glomerulonephritis in children is postinfectious glomerulonephritis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955183012
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http://dx.doi.org/10.1016/j.pcl.2018.08.003DOI Listing
February 2019
13 Reads

Hypocalcemic disorders.

Best Pract Res Clin Endocrinol Metab 2018 10 28;32(5):639-656. Epub 2018 May 28.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier 1101, 50 Blossom St, Boston, MA, 02114, USA. Electronic address:

Calcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X183007
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http://dx.doi.org/10.1016/j.beem.2018.05.006DOI Listing
October 2018
13 Reads

Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis.

Urolithiasis 2019 Feb 16;47(1):23-33. Epub 2018 Nov 16.

Nephrology and Dialysis Unit, Postgraduate School of Nephrology, IRCCS San Raffaele Scientific Institute, Vita Salute University, 20132, Milan, Italy.

Calcium-sensing receptor (CaSR) is a plasma-membrane G protein-coupled receptor activated by extracellular calcium and expressed in kidney tubular cells. It inhibits calcium reabsorption in the ascending limb and distal convoluted tubule when stimulated by the increase of serum calcium levels; therefore, these tubular segments are enabled by CaSR to play a substantial role in the regulation of serum calcium levels. In addition, CaSR increases water and proton excretion in the collecting duct and promotes phosphate reabsorption and citrate excretion in the proximal tubule. Read More

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http://link.springer.com/10.1007/s00240-018-1096-0
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http://dx.doi.org/10.1007/s00240-018-1096-0DOI Listing
February 2019
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MANAGEMENT OF ENDOCRINE DISEASE: Hypoparathyroidism in pregnancy: review and evidence-based recommendations for management.

Eur J Endocrinol 2019 Feb;180(2):R37-R44

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

Purpose Review calcium homeostasis in pregnancy and provide evidence-based best practice recommendations for the management of hypoparathyroidism in pregnancy. Methods We searched MEDLINE, EMBASE and Cochrane databases from January 2000 to April 1, 2018. A total of 65 articles were included in the final review. Read More

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https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
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http://dx.doi.org/10.1530/EJE-18-0541DOI Listing
February 2019
9 Reads

Hypoparathyroidism in children: a study of eight cases.

Tunis Med 2018 Aug - Sep;96(8-09):472-476

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. Read More

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November 2018
42 Reads