4,003 results match your criteria Hypercalciuria


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

Vitamin D and Calcium Homeostasis in Infants with Urolithiasis.

Adv Exp Med Biol 2019 Jan 12. Epub 2019 Jan 12.

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://dx.doi.org/10.1007/5584_2018_310DOI Listing
January 2019

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

Auditing the efficacy and safety of alfacalcidol and calcium therapy in idiopathic hypoparathyroidism.

J Clin Endocrinol Metab 2019 Jan 3. Epub 2019 Jan 3.

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

Context: Patients with hypoparathyroidism are managed with vitamin D and calcium. PTH is an emerging option due to its physiological action. Therefore, 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
January 2019

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

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
1 Read

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
2 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
1 Read

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

Gene 2018 Dec 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
December 2018

Urinary proteome in inherited nephrolithiasis.

Urolithiasis 2018 Dec 18. 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
December 2018
1 Read

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
1 Read

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

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

J Steroid Biochem Mol Biol 2018 Dec 6. 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
December 2018
2 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
2 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
2 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
2 Reads

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

Urolithiasis 2018 Nov 23. 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
November 2018
5 Reads

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
15 Reads

Update on Dent Disease.

Pediatr Clin North Am 2019 Feb;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
5 Reads

Approach to the Child with Hematuria.

Pediatr Clin North Am 2019 Feb;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
4 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
7 Reads

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

Urolithiasis 2018 Nov 16. 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
November 2018
5 Reads

MANAGEMENT OF ENDOCRINE DISEASE: Hypoparathyroidism in Pregnancy: Review and Evidence Based Recommendations for Management.

Eur J Endocrinol 2018 Nov 1. Epub 2018 Nov 1.

M Brandi, Department of Surgery and Translational Medicine, University of Florence, Florence, 50139, 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.

Conclusions: During pregnancy calcitriol levels increase by 2-3 fold resulting in enhanced intestinal calcium absorption. 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
November 2018
6 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
27 Reads

A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury.

Kidney Int Rep 2018 Nov 18;3(6):1443-1453. Epub 2018 Jun 18.

Department of Medicine, Nephrology Division, Medical University of South Carolina, Charleston, South Carolina, USA.

Introduction: Tubular dysfunction is characteristic of Dent's disease; however, focal segmental glomerulosclerosis (FSGS) can also be present. Glomerulosclerosis could be secondary to tubular injury, but it remains uncertain whether the gene, which encodes an endosomal chloride and/or hydrogen exchanger, plays a role in podocyte biology. Here, we implicate a role for CLCN5 in podocyte function and pathophysiology. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24680249183013
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http://dx.doi.org/10.1016/j.ekir.2018.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224352PMC
November 2018
8 Reads

[Michaelis-Manz syndrome. A case report].

An Sist Sanit Navar 2018 Dec 26;41(3):393-396. Epub 2018 Dec 26.

.

Michaelis-Manz syndrome is an autosomal recessive hereditary tubulopathy associated with mutations in the tight-junction proteins claudin-16 and claudin-19, which are present in the distal convoluted tubule and the loop of Henle in the kidney. Claudin-19 is also expressed in the retinal pigmentary epithelium. The clinical picture causes hypomagnesemia, hyper-calciuria and nephrocalcinosis that can lead to renal failure, which is the condition that marks the prognosis of the disease. Read More

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http://dx.doi.org/10.23938/ASSN.0377DOI Listing
December 2018
1 Read

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

CHU de Caen, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, Caen, F-14000, France; Université Caen Normandie, Medical School, Caen, F14000, France; BioTARGEN, Université Caen Normandie, Caen, F14000, France.

Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hypercalcemia (IIH) (MIM 143880). Common features of this autosomal recessive condition included hypercalcemia with hypercalciuria, suppressed PTH and a high 25-OH-D:24,25-(OH)D ratio. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183026
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http://dx.doi.org/10.1016/j.ejmg.2018.11.011DOI Listing
November 2018
6 Reads

End-organ effects of primary hyperparathyroidism: A population-based study.

Surgery 2019 Jan 9;165(1):99-104. Epub 2018 Nov 9.

Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, CA.

Background: Patients with primary hyperparathyroidism are at risk for skeletal and renal end-organ damage.

Methods: We studied patients with biochemically confirmed primary hyperparathyroidism from 1995-2014 and quantified the frequency of osteoporosis, nephrolithiasis, hypercalciuria, and decrease in renal function.

Results: The cohort comprised 9,485 patients. Read More

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http://dx.doi.org/10.1016/j.surg.2018.04.088DOI Listing
January 2019
1 Read

Long-term complications in patients with chronic hypoparathyroidism: a cross-sectional study.

Eur J Endocrinol 2018 Nov 1. Epub 2018 Nov 1.

B Decallonne, Department of Endocrinology, University Hospitals Leuven, Leuven, 3000, Belgium.

Objective: Chronic hypoparathyroidism and its treatment may lead to symptoms and complications affecting quality of life. We determined complications in chronic hypoparathyroid patients.

Design: Retrospective cross-sectional study of patients with chronic hypoparathyroidism treated with active vitamin D supplements in a tertiary care centre during the year 2015. 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-18-0580DOI Listing
November 2018
12 Reads

Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study.

Eur J Endocrinol 2018 Nov 1. Epub 2018 Nov 1.

L Castaño, Endocrinology and Diabetes Research Group,Cruces University Hospital, CIBERDEM, CIBERER, UPV-EHU, BioCruces Health Research Institute, Barakaldo, Spain.

Objective: Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) is known to play a central role in the regulation of extracellular calcium homeostasis. We performed clinical, biochemical and genetic characterization of sequence anomalies in this receptor in a cohort of 130 individuals from 82 families with suspected alterations in the CASR gene, one of the largest series described. 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-18-0129DOI Listing
November 2018
9 Reads

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl/H Antiporter ClC-5.

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01490
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http://dx.doi.org/10.3389/fphys.2018.01490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206076PMC
October 2018
4 Reads

[Therapeutic compliance in patients with renal lithiasis and biochemical risk factors.]

Arch Esp Urol 2018 Nov;71(9):765-771

Servicio de Urología. Hospital Universitario Virgen del Rocío. Sevilla. España.

Objective: To evaluate patient compliance with treatment for urinary lithiasis and to detect differences in adherence, causes of this behavior and associated factors.

Methods: We performed a retrospective study of 93 patients with positive urinary metabolic study (UMS) for lithogenic pathology, diagnosed between 2013 and 2015, gathering data from the digital medical records and a structured telephonic questionnaire in 75 of them. Results were analyzed using the X2 test. Read More

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November 2018
7 Reads

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. Read More

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http://doi.wiley.com/10.1002/jbmr.3624
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http://dx.doi.org/10.1002/jbmr.3624DOI Listing
November 2018
8 Reads

CLINICAL-EPIDEMIOLOGICAL PROFILE OF 106 PEDIATRIC PACIENTS WITH UROLITHIASIS IN RIO DE JANEIRO, BRAZIL.

Rev Paul Pediatr 2018 Jul-Sep;36(3):261-267

Universidade Federal Fluminense, Niterói, RJ, Brasil.

Objective: To describe the frequency, clinical profile and treatment of patients with urolithiasis in the Pediatric Nephrology Department of a public state hospital in Rio de Janeiro, Brazil.

Methods: Retrospective study. Data from pediatric patients (age: 1 month - 18 years) with urolithiasis admitted between January/2012 and December/2014 were reviewed from hospital charts. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1984-0462/;2018;36;3;00009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202900PMC
April 2017
6 Reads

Use of active metabolites of vitamin D orally for the treatment of psoriasis.

Rev Assoc Med Bras (1992) 2018 Jul;64(7):643-648

Full Professor of the Discipline of Dermatology, University of West Paulista (UNOESTE), Presidente Prudente/São Paulo, Brasil and Chief of Dermatology Service of the Regional Hospital of Presidente Prudente, Presidente Prudente/São Paulo, Brasil.

Objective: The objective of this study was to analyse the existing bibliographic production on clinical trials related to the use of vitamin D for oral treatment of psoriasis.

Method: A literature review of clinical trials related to the use of vitamin D for oral treatment of psoriasis, published in the LILACS, Scielo, Medline, PubMed and Cochrane Library from 1986 to 2013. The search included the following terms: "Psoriasis and oral Vitamin D"; "psoríase e vitamina D oral". Read More

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http://dx.doi.org/10.1590/1806-9282.64.07.643DOI Listing

Ethyl Pyruvate Attenuates CaCl2-Induced Tubular Epithelial Cell Injury by Inhibiting Autophagy and Inflammatory Responses.

Kidney Blood Press Res 2018 23;43(5):1585-1595. Epub 2018 Oct 23.

Background/aims: Nephrolithiasis is one of the most prevalent diseases of the urinary system. Approximately 80% of human kidney stones are composed of calcium oxalate (CaOx), and hypercalciuria is one of the most common metabolic disorders. Emerging evidence indicates that autophagy and inflammatory responses are related to the formation of CaOx nephrolithiasis. Read More

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http://dx.doi.org/10.1159/000494445DOI Listing
January 2019
2 Reads

Use of a Systems Pharmacology Model Based Approach Toward Dose Optimization of Parathyroid Hormone Therapy in Hypoparathyroidism.

Clin Pharmacol Ther 2018 Oct 22. Epub 2018 Oct 22.

Merck & Co, North Wales, Pennsylvania,, USA.

We present an application of a quantitative systems pharmacology (QSP) model to support a regulatory decision, specifically in assessing the adequacy of the proposed dosing regimen. On January 23, 2015, the US Food and Drug Administration (FDA) approved Natpara (human parathyroid hormone (PTH)) to control hypocalcemia in patients with hypoparathyroidism. Clinical trial results indicated that although once-daily PTH reduced calcium and vitamin D dose requirement while maintaining the normocalcemia, the regimen was not adequate to control hypercalciuria. Read More

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http://doi.wiley.com/10.1002/cpt.1200
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http://dx.doi.org/10.1002/cpt.1200DOI Listing
October 2018
6 Reads

Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old).

J Ren Nutr 2018 Oct 12. Epub 2018 Oct 12.

Department of Pediatrics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Objective: Considering the predictive role of the relatively low urinary citrate for stone formation, especially in hypercalciuric patients, this study is aimed at comparing urine calcium to citrate (Ca/Cit) ratio in 3 groups of children, including patients with idiopathic hypercalciuria with and without renal stone as well as the healthy children.

Methods: This study was carried out on 96 children (2 to 12 years old) referred to a pediatric nephrology clinic in the city of Ahvaz, Southwest Iran. All the children underwent renal ultrasonography, urinalysis, and measurement of random nonfasting urine Ca, Cr, and citrate. Read More

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http://dx.doi.org/10.1053/j.jrn.2018.08.005DOI Listing
October 2018
6 Reads

Efficacy and Safety of the Biosimilar Recombinant Human Parathyroid Hormone Cinnopar in Postmenopausal Osteoporotic Women: A Randomized Double-blind Clinical Trial.

Iran J Public Health 2018 Sep;47(9):1336-1344

Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background: Due to high cost and burden of osteoporosis, it is reasonable to focus on the reduction of fractures as the main goal of treatment. We compared the efficacy and safety of a new biosimilar recombinant human parathyroid hormone (CinnoPar®, CinnaGen, Iran) to the reference product (Forteo®, Eli Lilly, USA) in a randomized double-blind clinical trial (RCT).

Methods: Overall, 104 osteoporotic postmenopausal women aged 45-75 yr were randomized to receive 20 μg daily subcutaneous injections of either Forteo® or CinnoPar® for 6-months from 2011-2012. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174042PMC
September 2018
8 Reads

Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.

Clin Exp Nephrol 2018 Oct 13. Epub 2018 Oct 13.

Department of Molecular Nutrition, Institute of Biomedical Sciences, University of Tokushima Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.

Background: The role of Na-dependent inorganic phosphate (Pi) transporters in the human kidney is not fully clarified. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by loss-of-function mutations in the IIc Na-dependent Pi transporter (NPT2c/Npt2c/NaPi-IIc) gene. Another Na-dependent type II transporter, (NPT2A/Npt2a/NaPi-IIa), is also important for renal Pi reabsorption in humans. Read More

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http://dx.doi.org/10.1007/s10157-018-1653-4DOI Listing
October 2018
3 Reads

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Endocrinol Diabetes Metab Case Rep 2018 Sep 25;2018. Epub 2018 Sep 25.

University of Sydney, Sydney, New South Wales, Australia

Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Read More

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https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM1
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http://dx.doi.org/10.1530/EDM-18-0107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169543PMC
September 2018
4 Reads

Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods.

J Transl Med 2018 Oct 11;16(1):278. Epub 2018 Oct 11.

Fisiopatologia Renal, Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Institut de Recerca Vall d'Hebron (VHIR), Barcelona, Spain.

Background: Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder caused by mutations in either CLDN16 or CLDN19 genes. This disease is characterized by massive urinary wasting of magnesium and calcium, osmosis deregulation and polyuria. Read More

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http://dx.doi.org/10.1186/s12967-018-1651-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180391PMC
October 2018
4 Reads

Genetic hypercalcemia.

Joint Bone Spine 2018 Oct 6. Epub 2018 Oct 6.

Hôpital Cochin assistance publique, hôpitaux de Paris, 27, rue du faubourg Saint-Jacques, 75014 Paris, France. Electronic address:

A genetic disorder should be suspected in patients with hypercalcemia, notably those who are young; have family members with hypercalcemia; or have had a tumor of the endocrine pancreas, thyroid, pituitary, adrenal gland, or jaw bone. All forms of hypercalcemia should be interpreted according to the serum level of parathyroid hormone (PTH). Genetic forms are thus classified as related or unrelated to a parathyroid gland disorder. Read More

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http://dx.doi.org/10.1016/j.jbspin.2018.10.001DOI Listing
October 2018
1 Read

Importance of magnesium sulfate supplementation in the prevention of hypomagnesemia and hypocalcemia during chemoradiation in head and neck cancer.

J Trace Elem Med Biol 2018 Dec 18;50:327-331. Epub 2018 Jul 18.

Institute of Oncology Ljubljana, Department of Medical Oncology, Zaloška 2, Ljubljana, Slovenia.

In advanced squamous cell carcinoma of the head and neck, concomitant radiotherapy with cisplatin and/or cetuximab is frequently combined with cisplatin-based induction chemotherapy, which can cause severe hypomagnesemia, hypocalcemia, and hypokalemia. The aim of our study was to analyze the effects of magnesium sulfate supplementation on the incidence of hypomagnesemia, hypokalemia, and hypocalcemia during four cycles of TPF (docetaxel, cisplatin, and 5-fluorouracil) induction chemotherapy followed by concomitant radiotherapy (CRT) with cisplatin and cetuximab. Twenty-five patients included in a phase II prospective study received routine magnesium sulfate infusions before each cycle of cisplatin, and additional supplementation based on laboratory findings. Read More

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http://dx.doi.org/10.1016/j.jtemb.2018.07.012DOI Listing
December 2018
11 Reads

An 8-year-old with genu valgum: Answers.

Pediatr Nephrol 2018 Sep 26. Epub 2018 Sep 26.

Renal Section, Department of Pediatrics, Baylor College of Medicine, 1102 Bates St, Suite 245, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00467-018-4090-4DOI Listing
September 2018
2 Reads

Advances in the treatment of hypoparathyroidism with PTH 1-34.

Authors:
Karen K Winer

Bone 2018 Sep 21. Epub 2018 Sep 21.

Eunice Kennedy Shriver National Institutes of Child health and Human Development, NIH, Bethesda, MD, United States. Electronic address:

Hypoparathyroidism is a rare disorder of calcium metabolism which is treated with calcium and vitamin D analogs. Although conventional therapy effectively raises serum calcium, it bypasses the potent calcium reabsorption effects of PTH on the kidney which leads to hypercalciuria and an increased risk of nephrocalcinosis and renal insufficiency. Twenty-five years ago, we launched the first systematic investigation into synthetic human PTH 1-34 replacement therapy in both adults and children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183035
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http://dx.doi.org/10.1016/j.bone.2018.09.018DOI Listing
September 2018
12 Reads

Tubular dysfunction in extremely low birth weight survivors.

Clin Exp Nephrol 2018 Sep 20. Epub 2018 Sep 20.

Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Background: Extremely low birth weight (ELBW) survivors may develop glomerulosclerosis due to low nephron number, whereas their tubular function remains unknown except for hypercalciuria and phosphaturia.

Methods: Fifty-three subjects (30 boys and 23 girls, aged 7 months-19 years, median 36 months) were studied retrospectively. The median gestational age and birth weight were 26 weeks (range 22-32) and 745 g (range 316-999), respectively. Read More

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http://dx.doi.org/10.1007/s10157-018-1645-4DOI Listing
September 2018
1 Read