4,215 results match your criteria Hypercalciuria


[Bartter-Gitelman syndromes].

Nephrol Ther 2020 Jul 1. Epub 2020 Jul 1.

Département de génétique, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France; Centre de Référence de maladies rénales rares de l'enfant et de l'adulte (MARHEA), Paris, France.

Bartter-Gitelman syndromes are rare inherited autosomal recessive salt-losing tubulopathies characterized by severe and chronic hypokalemia associated with metabolic alkalosis and secondary hyperaldosteronism. Bartter syndrome results from a furosemide-like defect in sodium reabsorption in the Henle's loop leading to hypercalciuria and defect in urinary concentration capacity. The antenatal Bartter syndrome is defined by polyhydramnios and an infantile polyuria with severe dehydration whereas classic Bartter syndrome appears during childhood or adulthood. Read More

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http://dx.doi.org/10.1016/j.nephro.2020.06.001DOI Listing

Calcium-Sensing Receptor Gene Polymorphisms and Idiopathic Hypercalciuria in Children.

Indian J Pediatr 2020 Jul 3. Epub 2020 Jul 3.

Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, Greece.

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http://dx.doi.org/10.1007/s12098-020-03388-8DOI Listing

Low bone mineral density due to secondary hyperparathyroidism in the mouse model of Fabry disease.

FASEB Bioadv 2020 Jun 10;2(6):365-381. Epub 2020 Jun 10.

Department of Matrix Medicine Faculty of Medicine Oita University Yufu Oita Japan.

Low bone mineral density (BMD)-diagnosed as osteoporosis or osteopenia-has been reported as a new characteristic feature of Fabry disease; however, the mechanism underlying the development of low BMD is unknown. We previously revealed that a mouse model of Fabry disease [] exhibits impaired functioning of medullary thick ascending limb (mTAL), leading to insufficient Ca reabsorption and hypercalciuria. Here, we investigated bone metabolism in mice without marked glomerular or proximal tubular damage. Read More

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http://dx.doi.org/10.1096/fba.2019-00080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325589PMC

The interest of oral calcium loads test in the diagnosis and management of pediatric nephrolithiasis with hypercalciuria: Experience from a tertiary pediatric centre.

J Pediatr Urol 2020 May 30. Epub 2020 May 30.

Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Centre de Référence des Maladies Rares Du Calcium et Du Phosphore, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Faculté de Médecine Lyon Est, Université Lyon 1, Lyon, France; INSERM 1033 Research Unit, Lyon, France. Electronic address:

Introduction: The use of calcium load has been forgotten in pediatrics until recently whereas it is of utmost importance to have a practical approach to guide management of hypercalciuric nephrolithiasis.

Objective: The purpose of this study was to evaluate the practical interest of oral calcium loads to improve the overall management of nephrolithiasis in children.

Methods: We retrospectively studied all pediatric patients having undergone an oral calcium load in our pediatric nephrology unit between September 2015 and April 2017. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.05.160DOI Listing

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report.

BMC Pediatr 2020 Jun 26;20(1):311. Epub 2020 Jun 26.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, 1151 Richmond Street, London, ON, N6A5C1, Canada.

Background: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy. Read More

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http://dx.doi.org/10.1186/s12887-020-02214-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318402PMC

Cinacalcet-Associated Resolution of Primary Hyperparathyroidism in a Patient With Normal Kidney Function.

J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620936836

Department of Medicine, Albany Medical College, Albany, NY, USA.

Cinacalcet use is associated with risk of hypocalcemia; however, this risk has been mostly demonstrated in patients with chronic kidney disease. In this article, we describe a case of a 59-year-old male with primary hyperparathyroidism (PHPT), hypercalciuria, osteopenia, and normal kidney function who was started on cinacalcet for the management of recurrent hypercalcemia following prior unsuccessful parathyroidectomy. Within 6 months following cinacalcet commencement, he developed symptomatic and biochemical hypocalcemia requiring discontinuation of the medication and initiation of calcium supplementation. Read More

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http://dx.doi.org/10.1177/2324709620936836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318811PMC

Recurrent urinary tract infection and nephrocalcinosis: Answers.

Pediatr Nephrol 2020 Jun 23. Epub 2020 Jun 23.

Department of Pediatrics, Loma Linda University Children's Hospital, A1120-Coleman Pavilion, 11175 Campus Street, Loma Linda, CA, 92354, USA.

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http://dx.doi.org/10.1007/s00467-020-04650-zDOI Listing

Intestinal epithelial ablation of Pit-2/Slc20a2 in mice leads to sustained elevation of vitamin D upon dietary restriction of phosphate.

Acta Physiol (Oxf) 2020 Jun 21:e13526. Epub 2020 Jun 21.

University of Zürich, Institute of Physiology, Zürich, Switzerland.

Aim: Several Na -dependent phosphate cotransporters namely NaPi-IIb/SLC34A3, Pit-1/SLC20A1 and Pit-2/SLC20A2, are expressed at the apical membrane of enterocytes but their contribution to active absorption of phosphate is unclear. The aim of this study was to compare their pattern of mRNA expression along the small and large intestine and to analyse the effect of intestinal depletion of Pit-2 on phosphate homeostasis.

Methods: Intestinal epithelial Pit-2 deficient mice were generated by crossing floxed Pit-2 with villin-Cre mice. Read More

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http://dx.doi.org/10.1111/apha.13526DOI Listing

Metabolic risk factors in children with kidney stone disease: an update.

Pediatr Nephrol 2020 Jun 20. Epub 2020 Jun 20.

Instituto de Investigaciones Metabólicas (IDIM), Libertad 836, 1er piso (1012), Buenos Aires, Argentina.

Background: The prevalence of kidney stones in children has significantly increased in the past few decades, with concomitant increased morbidity and healthcare costs worldwide. Assessing metabolic risk factors is essential for diagnosis and specific treatment. The objective of this retrospective study is to identify the epidemiological and clinical characteristics of children under 17 years of age, as well as the metabolic risk factors of nephrolithiasis. Read More

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http://dx.doi.org/10.1007/s00467-020-04660-xDOI Listing

Coexistence of Sarcoidosis and Sjögren's syndrome with hypercalcemia and renal involvement: A case report and literature review.

Endocr Metab Immune Disord Drug Targets 2020 Jun 19. Epub 2020 Jun 19.

Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai. China.

Background: Sarcoidosis and Sjögren's syndrome (SS) are chronic multi-system inflammatory diseases of unknown origin that most commonly attack the salivary glands. Both of the diseases have vague and nonspecific symptoms, causing difficulties for the clinicians to distinguish between the two diseases. Most diagnostic criteria of SS exclude sarcoidosis. Read More

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http://dx.doi.org/10.2174/1871530320666200619133654DOI Listing

Androgen action on renal calcium and phosphate handling: Effects of bisphosphonate treatment and low calcium diet.

Mol Cell Endocrinol 2020 Jun 10;514:110891. Epub 2020 Jun 10.

Clinical and Experimental Endocrinology, Department of Chronic Diseases, Metabolism and Aging, KU Leuven, Belgium. Electronic address:

Renal calcium and phosphate handling is an important contributor to mineral homeostasis and bone health and the androgen receptor (AR) is highly expressed in the kidney. We investigated the short term effects of androgen deprivation on renal calcium and phosphate reabsorption, independent of their effects on bone. Two weeks following orchidectomy (ORX) of adult mice, bone loss occurred along with hypercalciuria, which was similarly prevented by testosterone and dihydrotestosterone supplementation. Read More

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http://dx.doi.org/10.1016/j.mce.2020.110891DOI Listing

Genetics of kidney stone disease.

Nat Rev Urol 2020 Jul 12;17(7):407-421. Epub 2020 Jun 12.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the majority of individuals, nephrolithiasis has a multifactorial aetiology involving genetic and environmental factors. Read More

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http://dx.doi.org/10.1038/s41585-020-0332-xDOI Listing

ADPKD, Tolvaptan, and Nephrolithiasis Risk.

Clin J Am Soc Nephrol 2020 Jul 11;15(7):923-925. Epub 2020 Jun 11.

Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.2215/CJN.07610520DOI Listing

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN AND LITERATURE REVIEW.

AACE Clin Case Rep 2020 May-Jun;6(3):e105-e112. Epub 2020 May 11.

Objective: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from severe rickets to no disease. Accurate diagnosis is important as the treatment differs from other forms of rickets. Read More

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http://dx.doi.org/10.4158/ACCR-2019-0456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282280PMC

Cystatin C, Neutrophil Gelatinase-associated Lipocalin, and Lysozyme C: Urinary Biomarkers for Detection of Early Kidney Dysfunction in Children With Urolithiasis.

Urology 2020 Jun 5. Epub 2020 Jun 5.

Department of Pediatric Urology, Children's Hospital of Michigan, Detroit, MI.

Objective: To screen for the presence of biomarkers involved in tubular injury and kidney damage in children with urolithiasis (RS), and to validate these proteins by ELISA.

Methods: Prospective-controlled pilot study of children with urolithiasis and their age- and gender-matched controls (HC). Initial screening test was done by quantitative proteomic comparison of pooled urine from RS versus HC, using liquid chromatography-mass spectrometry. Read More

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http://dx.doi.org/10.1016/j.urology.2020.05.050DOI Listing

The modified Atkins diet in children with Prader-Willi syndrome.

Orphanet J Rare Dis 2020 Jun 3;15(1):135. Epub 2020 Jun 3.

Division of Pediatric Gastroenterology and Nutrition, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Background: Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

Methods: This was a clinical feasibility study to test the use of the Modified Atkins Diet (low carbohydrate and high fat) for children with PWS ages 6-12 years who were overweight/obese. Read More

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http://dx.doi.org/10.1186/s13023-020-01412-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268481PMC

Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.

World J Pediatr 2020 Jun 1. Epub 2020 Jun 1.

Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG 30130-100, Brazil.

Backgound: Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop.

Data Sources: Literature reviews and original research articles were collected from database, including PubMed and Scopus.

Results: According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Read More

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http://dx.doi.org/10.1007/s12519-020-00370-4DOI Listing

[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jun;37(6):637-640

Department of Nephrology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518000, China.

Objective: To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH).

Methods: Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.06.010DOI Listing

Prevalence, distribution and clinical significance of joints, muscles and bones in sarcoidosis: an F-FDG-PET/CT study.

Expert Rev Respir Med 2020 Jun 17:1-8. Epub 2020 Jun 17.

2nd Department of Radiology, Division of Nuclear Medicine, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens , Athens, Greece.

Objectives: In Sarcoidosis joints-muscles-bones (JMBs) localizations are of the least common. F-FDG-PET/CT imaging revolutionized detection of JMBs involvement by adding metabolic activity information and allowing for a comprehensive, whole-body mapping of the disease.

Aim And Methods: This study investigated prevalence, distribution, and clinical significance of JMBs sarcoidosis in 195 consecutive patients that underwent F-FDG PET/CT examination. Read More

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http://dx.doi.org/10.1080/17476348.2020.1775587DOI Listing

Kidney involvement and associated risk factors in children with Duchenne muscular dystrophy.

Pediatr Nephrol 2020 May 23. Epub 2020 May 23.

Department of Pediatrics, Division of Pediatric Nephrology, Antalya Training and Research Hospital, 07059, Antalya, Turkey.

Background: Kidney dysfunction is a common complication in adults with Duchenne muscular dystrophy (DMD); however, little attention has been paid to kidney function in pediatric patients.

Methods: Medical records of patients with DMD who were followed up for ≥ 12 months were retrospectively reviewed. Inclusion criteria were (i) aged 5-18 years, (ii) proven mutations in the dystrophin gene, and (iii) absence of structural anomalies of the kidney and urinary tract. Read More

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http://dx.doi.org/10.1007/s00467-020-04587-3DOI Listing

Urinary Metabolic Profile of Patients with Transfusion-Dependent β-Thalassemia Major Undergoing Deferasirox Therapy.

Kidney Blood Press Res 2020 20;45(3):455-466. Epub 2020 May 20.

Rare Blood Cell Disease Unit, "Cardarelli" Hospital, Naples, Italy.

Introduction: Renal dysfunction is a frequent complication in patients suffering from β-thalassemia major (β-TM). The aim of this study was to analyze the renal function and urine metabolomic profile of β-TM patients undergoing transfusions and deferasirox (DFX) therapy, in order to better characterize and shed light on the pathogenesis of renal disease in this setting.

Methods And Subjects: 40 patients affected by β-TM treated with DFX and 35 age- and gender-matched healthy controls were enrolled in the study. Read More

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http://dx.doi.org/10.1159/000507369DOI Listing

The Effect of Extracellular Calcium Metabolism on Aldosterone Biosynthesis in Physiological and Pathological Status.

Horm Metab Res 2020 Jun 13;52(6):448-453. Epub 2020 May 13.

Department of Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan.

Primary aldosteronism (PA) was reported to frequently harbor not only cardiovascular diseases but also some metabolic disorders including secondary calcium metabolic diseases. Recently, the potential association between aldosterone producing cells and systemic calcium metabolism has been proposed. For instance, PA is frequently associated with hypercalciuria or hypocalcemia, which subsequently stimulates parathyroid hormone (PTH) secretion. Read More

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http://dx.doi.org/10.1055/a-1157-0511DOI Listing

Metabolic evaluation in urolithiasis - study of the prevalence of metabolic abnormalities in a tertiary centre.

Cent European J Urol 2020 25;73(1):55-61. Epub 2020 Feb 25.

Department of Urology, Centro Hospitalar Universitário São João, Porto, Portugal.

Introduction: Metabolic abnormalities are one of the most important risk factors for urinary stone disease. Our objective was to determine the prevalence of metabolic abnormalities in patients referred to the urolithiasis outpatient clinic of a tertiary centre.

Material And Methods: We performed a cross-sectional study evaluating 67 patients referred to the urolithiasis outpatient clinic. Read More

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http://dx.doi.org/10.5173/ceju.2020.0051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203776PMC
February 2020

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).

BMC Nephrol 2020 May 11;21(1):171. Epub 2020 May 11.

Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou, 310003, China.

Background: Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.

Case Presentation: Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia. Read More

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http://dx.doi.org/10.1186/s12882-020-01827-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216489PMC

Spot urine samples to estimate 24-hour urinary calcium excretion in school-age children.

Eur J Pediatr 2020 May 9. Epub 2020 May 9.

Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Urinary calcium/creatinine ratio (UCa/Cr) on a single spot urine sample is frequently used in children to evaluate calciuria, but its accuracy to estimate 24-h urinary calcium excretion (24hUCa) has not been properly assessed. We analyzed the correlation between UCa/Cr in various spot samples and 24hUCa among healthy children. A 24-h urine specimen and three spot urine samples (evening, first, and second morning) were collected in a convenience sample of children aged 6 to 16 years (n = 101). Read More

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http://dx.doi.org/10.1007/s00431-020-03662-zDOI Listing

The effect of an oral sodium phosphate load on parathyroid hormone and fibroblast growth factor 23 secretion in normo- and hypercalciuric stone-forming patients.

Clin Nutr 2020 Apr 21. Epub 2020 Apr 21.

Department of Dietetics, School of Public Health in Bytom, Medical University of Silesia, Ul. Piekarska 19, 41-902, Bytom, Poland. Electronic address:

Background & Aims: Abnormalities of parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) secretion may cause calcium-phosphate (Ca-P) metabolism disorders in nephrolithiasis. Post-phosphate-load alterations in serum Ca, P and PTH, phosphaturia and calciuria enable monitoring hormonal regulation of Ca-P homeostasis. Our study aimed to determine differences in: 1. Read More

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http://dx.doi.org/10.1016/j.clnu.2020.04.020DOI Listing

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.

Endocr Connect 2020 Jun;9(6):530-541

Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland.

Introduction: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants. Read More

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http://dx.doi.org/10.1530/EC-20-0150DOI Listing

Hypomagnesuria is Associated With Nephrolithiasis in Patients With Asymptomatic Primary Hyperparathyroidism.

J Clin Endocrinol Metab 2020 Aug;105(8)

Endocrinology Unit, University of Pisa, Pisa, Italy.

Context: The pathogenesis of nephrolithiasis in primary hyperparathyroidism (PHPT) remains to be elucidated. The latest guidelines suggest parathyroidectomy in patients with asymptomatic PHPT with hypercalciuria (> 400 mg/d) and increased stone risk profile.

Objective: The objective of this work is to evaluate the association of urinary stone risk factors and nephrolithiasis in patients with asymptomatic sporadic PHPT and its clinical relevance. Read More

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http://dx.doi.org/10.1210/clinem/dgaa233DOI Listing

Metabolic effects of cholecalciferol supplementation in patients with calcium nephrolithiasis and vitamin D deficiency.

World J Urol 2020 May 4. Epub 2020 May 4.

S.C. Nefrologia e Dialisi, A.O. Ordine Mauriziano di Torino, Largo Turati, 62, 10128, Turin, Italy.

Introduction: In this paper, we investigated whether cholecalciferol supplementation may increase the risk of stone recurrence in patients with calcium nephrolithiasis and Vitamin D deficiency.

Methods: Thirty-three stone formers (56 ± 17 years old, 12 males) with 25(OH)D < 20 ng/mL were considered. Calcium excretion and urine supersaturation with calcium oxalate (ßCaOx) and brushite (ßbsh) were evaluated, both before and after cholecalciferol supplementation. Read More

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http://dx.doi.org/10.1007/s00345-020-03222-yDOI Listing

Primary hyperparathyroidism.

Best Pract Res Clin Rheumatol 2020 Apr 23:101514. Epub 2020 Apr 23.

Serviço de Endocrinologia e Metabologia do Hospital de Clínicas da Universidade Federal do Paraná (SEMPR), Curitiba, Brazil; Lab Pro, Bone Histomorphometry, Fundação Pro Renal, Curitiba, Brazil. Electronic address:

Primary hyperparathyroidism (PHPT) is a condition that affects calcium metabolism due to parathyroid hormone (PTH) hypersecretion leading to hypercalcemia. Manifestations have changed over time, from a symptomatic disease with bone pain, fractures, nephrolithiasis, and muscle weakness, to a condition that is mainly asymptomatic (80-90%). Typical symptoms and signs occur in the bones and kidneys and atypical manifestations are cardiovascular, neuropsychiatric and cognitive, neuromuscular, rheumatological, and gastrointestinal. Read More

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http://dx.doi.org/10.1016/j.berh.2020.101514DOI Listing

Response to: Neonatal transient hypophosphatemic hypercalciuric rickets in dizygous twins.

Arch Pediatr 2020 05 22;27(4):234. Epub 2020 Apr 22.

Service de néphrologie, rhumatologie et dermatologie pédiatriques, centre de référence des maladies rénales rares, centre de référence des maladies rares du calcium et du phosphore, hôpital Femme-Mère-Enfant, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.arcped.2020.03.003DOI Listing

Relationship of endoscopic lesions of the renal papilla with type of renal stone and 24 h urine analysis.

BMC Urol 2020 Apr 25;20(1):46. Epub 2020 Apr 25.

Hospital Universitari Son Espases, Ctra. Valldemossa, 79, Palma de Mallorca, Spain.

Background: Our purpose was to study the relationship of the 3 different types of endoscopic calcifications of the renal papilla (Randall's plaque, intratubular calcification, papillary crater) with the type of stone and urine analysis.

Methods: This prospective study examined 41 patients (age range: 18 to 80 years) who received retrograde intrarenal surgery (RIRS) for renal lithiasis (mean stone size: 15.3 ± 7. Read More

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http://dx.doi.org/10.1186/s12894-020-00615-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183647PMC

G protein-coupled pH-sensing receptor OGR1 and metabolic acidosis-induced hypercalciuria.

Authors:
Henrik Dimke

Kidney Int 2020 May;97(5):852-854

Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark; Department of Nephrology, Odense University Hospital, Odense, Denmark. Electronic address:

Nearly a century ago it was discovered that metabolic acidosis promotes hypercalciuria. Studies have described intrarenal and extrarenal mechanisms underlying calcium wasting in acidosis, in part by altering bone metabolism but also by directly inhibiting renal calcium transport. In this issue of Kidney International, Imenez Silva et al. Read More

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http://dx.doi.org/10.1016/j.kint.2020.01.031DOI Listing

What Predicts Recurrent Kidney Stone after Parathyroidectomy in Patients with Primary Hyperparathyroidism?

J Am Coll Surg 2020 Jul 21;231(1):74-82. Epub 2020 Apr 21.

Internal Medicine and Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, UT Southwestern Medical Center, Dallas, TX.

Background: Some, but not all, patients with primary hyperparathyroidism (PHPT) and kidney stone disease (KSD) are cured of their nephrolithiasis after parathyroidectomy. The goal of this study was to identify risk factors for recurrent KSD despite successful parathyroidectomy in known stone formers with PHPT.

Study Design: We conducted a single-center retrospective review of patients presenting to urology clinic with KSD between January 2008 and July 2018, who were diagnosed with concurrent PHPT, and underwent definitive parathyroidectomy. Read More

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http://dx.doi.org/10.1016/j.jamcollsurg.2020.04.015DOI Listing
July 2020
5.122 Impact Factor

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

J Clin Endocrinol Metab 2020 Jul;105(7)

Division of Endocrinology and Diabetes and the Center for Bone Health, The Children's Hospital of Philadelphia, and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Context: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and nephrolithiasis/osteoporosis, hypophosphatemic 1 (NPHLOP1) due to monoallelic mutations in SLC34A1 encoding the NPT2A sodium-phosphate cotransporter.

Objective: To identify a genetic cause of apparent dominant transmission of HHRH.

Design And Setting: Retrospective and prospective analysis of clinical and molecular characteristics of patients studied in 2 academic medical centers. Read More

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http://dx.doi.org/10.1210/clinem/dgaa217DOI Listing

Response to Letter to the Editor: "Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors".

J Endocr Soc 2020 Apr 5;4(4):bvaa014. Epub 2020 Feb 5.

Osteometabolic Disorders Unit, Endocrinology Department, Division of Internal Medicine, Hospital das Clinicas da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1210/jendso/bvaa014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153747PMC

Anaesthetic management for hiatal hernia repair in a child with Bartter's syndrome: A case report.

J Pak Med Assoc 2020 Apr;70(4):737-739

Department of Anaesthesiology, Aga Khan University, Karachi, Pakistan.

Bartter syndrome is a rare disorder characterized by reduced sodium chloride transport in the distal nephrons of the kidney. Its clinical features are renal salt wasting, hypokalemic metabolic alkalosis, elevated renin and aldosterone levels with normal or low blood pressure, polyuria, hypercalciuria and malnutrition. The pathophysiologic and biochemical changes in these patients should be kept in mind when considering anaesthetic management. Read More

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http://dx.doi.org/10.5455/JPMA.302642254DOI Listing

The Efficacy of Polyunsaturated Fatty Acids as Protectors against Calcium Oxalate Renal Stone Formation: A Review.

Nutrients 2020 Apr 12;12(4). Epub 2020 Apr 12.

University Stone Centre, Department of Urology, University Hospital of Bonn, 53127 Bonn, Germany.

In the pathogenesis of hypercalciuria and hyperoxaluria, n-6 polyunsaturated fatty acids (PUFAs) have been implicated by virtue of their metabolic links with arachidonic acid (AA) and prostaglandin PGE. Studies have also shown that n-3 PUFAs, particularly those in fish oil-eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA)-can serve as competitive substrates for AA in the n-6 series and can be incorporated into cell membrane phospholipids in the latter's place, thereby reducing urinary excretions of calcium and oxalate. The present review interrogates several different types of study which address the question of the potential roles played by dietary PUFAs in modulating stone formation. Read More

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http://dx.doi.org/10.3390/nu12041069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230958PMC

Response to report of rickets in twins occurring after maternal bisphosphonate exposure.

Arch Pediatr 2020 05 9;27(4):233-234. Epub 2020 Apr 9.

Department of Pediatrics (Endocrinology), Yale University School of Medicine, P.O Box 208064, 06520-8064 New Haven, CT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.arcped.2020.03.006DOI Listing

Analysis of urine composition from split 24-h samples: use of 12-h overnight samples to evaluate risk factors for calcium stones in healthy and stone-forming children.

J Pediatr Urol 2020 Jun 22;16(3):371.e1-371.e7. Epub 2020 Feb 22.

Laboratory of Renal Lithiasis Research, University Institute of Health Sciences Research (IUNICS-IdISBa), University of Balearic Islands, Ctra Valldemossa, Km 7.5, 07122, Palma de Mallorca, Spain.

Introduction: The analysis of 24-h urine is the gold standard to diagnose metabolic abnormalities in the stone-forming patient. However, urinary composition changes throughout the day and analyzing the whole 24-h urine may mask peaks of increased risk of crystallization.

Objective: To examine variations of stone-promoting and stone-inhibiting factors in urine using split 24-h samples from healthy and stone-forming children. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.02.011DOI Listing

Claudin 2 and hypercalciuria - of mice and men.

Authors:
Annette Fenner

Nat Rev Urol 2020 May;17(5):255

Nature Reviews Urology, .

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http://dx.doi.org/10.1038/s41585-020-0318-8DOI Listing
May 2020
4.840 Impact Factor

Increased Osteoclast and Decreased Osteoblast Activity Causes Reduced Bone Mineral Density and Quality in Genetic Hypercalciuric Stone-Forming Rats.

JBMR Plus 2020 Apr 25;4(4):e10350. Epub 2020 Feb 25.

Division of Nephrology University of Rochester School of Medicine Rochester NY USA.

To study human idiopathic hypercalciuria (IH), we developed an animal model, genetic hypercalciuric stone-forming (GHS) rats, whose pathophysiology parallels that in IH. All GHS rats form kidney stones and have decreased BMD and bone quality compared with the founder Sprague-Dawley (SD) rats. To understand the bone defect, we characterized osteoclast and osteoblast activity in the GHS compared with SD rats. Read More

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http://dx.doi.org/10.1002/jbm4.10350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7117851PMC

Hyperparathyroidism in patients over 75: Clinical characteristics and outcome. Is conservative treatment a safe alternative?

Maturitas 2020 May 29;135:47-52. Epub 2020 Feb 29.

Institute of Endocrinology, Diabetes and Metabolism, Rabin Medical Center, Petah-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Objective: With the current aging of the world's population, primary hyperparathyroidism (PHPT) is increasingly detected in the elderly. Yet data on the presentation and outcome of PHPT in this group are scarce. The objective was to describe a cohort of patients aged 75 years or more with PHPT observed in our endocrine clinic. Read More

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http://dx.doi.org/10.1016/j.maturitas.2020.02.010DOI Listing

No stone unturned: The epidemiology and outcomes of paediatric urolithiasis in Manchester, United Kingdom.

J Pediatr Urol 2020 Jun 19;16(3):372.e1-372.e7. Epub 2020 Mar 19.

Royal Manchester Children's Hospital, Manchester, UK.

Background: The epidemiology and risk factors for paediatric urolithiasis (UL) in developed countries are evolving, with increasing rates of metabolic stone-formers. In the United Kingdom (UK), only a single London cohort has been studied in the past three decades. Regional disease patterns across the UK remain unknown. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.03.009DOI Listing

Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia.

Adv Ther 2020 May 31;37(Suppl 2):105-112. Epub 2020 Mar 31.

Servicio de Nefrología Pediátrica y Trasplante Renal, Hospital Sant Joan de Déu, Barcelona, Spain.

Conventional treatment of X-linked hypophosphataemia (XLH) consists in the oral administration of phosphate plus calcitriol supplements. Although this therapy has reduced bone deformities and even achieved adequate patient growth, overtreatment or low adherence could lead to subsequent consequences that may compromise the efficacy of the therapy. Some of the complications associated with phosphate and vitamin D treatment are abdominal discomfort, diarrhoea, hypokalaemia, hyperparathyroidism, hypercalcaemia or hypercalciuria, nephrocalcinosis or nephrolithiasis, and ectopic calcifications. Read More

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http://dx.doi.org/10.1007/s12325-019-01170-7DOI Listing

A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

Turk Pediatri Ars 2020 9;55(1):72-75. Epub 2020 Mar 9.

Department of Pediatric Nephrology, Dr. Sami Ulus Training and Research Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the gene or gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Read More

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http://dx.doi.org/10.5152/TurkPediatriArs.2018.6540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096570PMC

Etiological Profile of Nephrocalcinosis in Children from Southern India.

Indian Pediatr 2020 May 12;57(5):415-419. Epub 2020 Mar 12.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Objective: To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.

Methods: In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded. Read More

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Incomplete distal renal tubular acidosis in children.

Acta Paediatr 2020 Mar 25. Epub 2020 Mar 25.

University of Oviedo, Oviedo, Spain.

Aim: To describe incomplete distal renal tubular acidosis (iDRTA) in paediatric patients, a term used for the diagnosis of patients who do not develop spontaneous overt metabolic acidosis but are unable to acidify the urine in response to an ammonium chloride load.

Methods: Tests used to explore urinary acidification were revised. In addition, publications in English extracted from 161 entries yielded by a PubMed database search, using 'incomplete distal renal tubular acidosis' as keyword, were reviewed. Read More

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http://dx.doi.org/10.1111/apa.15269DOI Listing

Claudin 2: role in hypercalciuria and kidney stone disease.

Authors:
Susan J Allison

Nat Rev Nephrol 2020 05;16(5):252

Nature Reviews Nephrology, .

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http://dx.doi.org/10.1038/s41581-020-0273-xDOI Listing