3,912 results match your criteria Hypercalciuria


Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.

J Bone Miner Res 2018 Jun 22. Epub 2018 Jun 22.

Pediatrics / Hematology, CHOC Children's Hospital - UC Irvine; Orange, CA 92868, USA.

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities; autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. Read More

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Skeletal Consequences of Nephropathic Cystinosis.

J Bone Miner Res 2018 Jun 15. Epub 2018 Jun 15.

Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Health, Bethesda, MD, United States.

Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders in nephropathic cystinosis have not been described. Read More

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June 2018
1 Read

Percutaneous nephrolithotomy in an 8-week-old infant.

Can J Urol 2018 Jun;25(3):9363-9365

Department of Urology, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA.

We report successful percutaneous nephrolithotomy (PCNL) in an 8-week-old, 4.12 kg infant with a combined stone burden of > 2 cm in a solitary kidney. The patient was born with thoracolumbar myelomeningocele and had developed recurrent urinary tract infections. Read More

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Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1-34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity.

J Bone Miner Res 2018 Jun 7. Epub 2018 Jun 7.

Skeletal Distorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

Subcutaneous human parathyroid hormone (hPTH) therapy can effectively manage hypocalcemia in hypoparathyroidism, with varying effects on hypercalciuria. However, little is known about its ability to decrease the renal comorbidities of hypoparathyroidism: nephrocalcinosis (NC), nephrolithiasis (NL), and renal insufficiency. Urinary citrate (Ucit) promotes the solubility of urinary calcium (UCa); hypocitraturia is a risk factor for NC/NL. Read More

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June 2018
1 Read

Nephrolithiasis and Nephrocalcinosis From Topiramate Therapy in Children With Epilepsy.

Kidney Int Rep 2018 May 21;3(3):684-690. Epub 2018 Feb 21.

Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA.

Introduction: Adults treated with topiramate may develop nephrolithiasis, but its frequency in children on topiramate is unknown. Topiramate inhibits renal carbonic anhydrase, which can lead to renal tubular acidosis and hypercalciuria. We studied 40 consecutive children who initiated topiramate therapy for seizures between January 1997 and February 2003, followed for a mean of 36 months. Read More

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The Calcium-Sensing Receptor Increases Activity of the Renal NCC through the WNK4-SPAK Pathway.

J Am Soc Nephrol 2018 May 30. Epub 2018 May 30.

Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico;

Hypercalciuria can result from activation of the basolateral calcium-sensing receptor (CaSR), which in the thick ascending limb of Henle's loop controls Ca excretion and NaCl reabsorption in response to extracellular Ca However, the function of CaSR in the regulation of NaCl reabsorption in the distal convoluted tubule (DCT) is unknown. We hypothesized that CaSR in this location is involved in activating the thiazide-sensitive NaCl cotransporter (NCC) to prevent NaCl loss. We used a combination of and models to examine the effects of CaSR on NCC activity. Read More

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SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases.

J Clin Res Pediatr Endocrinol 2018 May 29. Epub 2018 May 29.

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

Objective: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a very rare inheritable hypophosphatemic rickets/osteomalacia characterized by decreased renal phosphate reabsorption, hypophosphatemia, vitamin D refractory rickets, hyperphosphaturia, hypercalciuria, elevated circulating 1, 25-dihydroxy vitamin D levels and low serum parathyroid hormone (PTH) levels, leading to growth retardation, limb deformities, bone pain, muscle weakness, rickets and osteomalacia. Biallelic mutations in SLC34A3/NPT2c gene are responsible for the occurrence of the disease.

Methods: In this paper we describe the clinical examination, biochemical profile and gene analysis of Iranian kindred with a 101bp deletion in SLC34A3 gene. Read More

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May 2018
2 Reads

The Effects of Diuretics on Mineral and Bone Metabolism.

Authors:
Uri S Alon

Pediatr Endocrinol Rev 2018 Mar;15(4):291-297

Division of Pediatric Nephrology, Children's Mercy Hospital Kansas City, 2401 Gillham Road, Kansas City, MO, USA, E-mail:

The effects of diuretics on water and electrolyte metabolism are well-established, but less known to the clinician are their effects on bone and mineral metabolism, and in particular on that of calcium homeostasis. In general, and clinically most relevant, diuretics acting at the thick ascending limb of the loop of Henle cause loss of calcium into the urine, thus making them a useful tool in treating hypercalcemia. However the hypercalciuria caused by loop diuretics may lead to the development of urolithiasis and nephrocalcinosis, as well as secondary hyperparathyroidism and bone disease. Read More

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A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Hum Mutat 2018 May 23. Epub 2018 May 23.

Sorbonne Université, Université Paris-Descartes, INSERM, CNRS, Paris, France.

Dent disease is an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl /H exchanger ClC-5, have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of ClC-5 (c. Read More

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Progression of Mineral Ion Abnormalities in Patients with Jansen's Metaphyseal Chondrodysplasia.

J Clin Endocrinol Metab 2018 May 16. Epub 2018 May 16.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Context: Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia.

Objectives: Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro.

Patients And Methods: The H223R mutation occurred in 18 patients. Read More

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May 2018
2 Reads

[A young girl with recurrent calculosis and hypercalcemia].

G Ital Nefrol 2018 May;35(3)

UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.

Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. Read More

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Claudins and nephrolithiasis.

Curr Opin Nephrol Hypertens 2018 Jul;27(4):268-276

Departments of Physiology and.

Purpose Of Review: The greatest risk factor for kidney stone formation is increased urinary calcium excretion. Most filtered calcium is reabsorbed from the proximal tubule and the thick ascending limb (TAL) of Henle's loop via a paracellular pathway. Claudins are tight junction proteins that confer the permeability properties of an epithelium. Read More

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[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy].

Pol Merkur Lekarski 2018 Apr;44(262):208-210

Medical University of Lublin, Poland: Department of Pediatric Nephrology.

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis. Read More

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April 2018
2 Reads

A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.

Arch Argent Pediatr 2018 06;116(3):e442-e444

Department of Pediatrics, Başkent University Zübeyde Hanım Research Hospital, Izmir, Turkey.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. Read More

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Hypercalciuria and febrile convulsion in children under 5 years old.

Korean J Pediatr 2018 Apr 23;61(4):129-131. Epub 2018 Apr 23.

Social Determinants of Health Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.

Purpose: The association between hypercalciuria and febrile convulsion is controversial. The present study aimed to investigate the statistical association between hypercalciuria and childhood febrile convulsions.

Methods: Overall, 160 children aged 6 months to 5 years, including 80 children with febrile convulsion and 80 febrile children without convulsion (comparison group), were recruited. Read More

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Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis.

Proc (Bayl Univ Med Cent) 2018 Apr 15;31(2):224-226. Epub 2018 Mar 15.

Division of Dermatology, Baylor University Medical Center, Dallas, Texas.

Sarcoidosis is a multisystem granulomatous disease most frequently affecting the lungs, lymph nodes, and eyes. Skin involvement occurs in approximately 25% to 35% of cases, with the scalp uncommonly affected. Abnormal calcium metabolism is associated with sarcoidosis and other granulomatous disorders and most commonly presents as hypercalciuria (40%-60%) and, less frequently, hypercalcemia (10%-20%). Read More

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Primary hyperparathyroidism: recent advances.

Curr Opin Rheumatol 2018 Jul;30(4):427-439

Division of Endocrinology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Purpose Of Review: The purpose of this review is to describe recent advances and changes in the evaluation and management of primary hyperparathyroidism (PHPT).

Recent Findings: Although it has long been recognized that asymptomatic PHPT is associated with bone loss, particularly at cortical skeletal sites when evaluated with dual-energy X-ray absorptiometry, new imaging techniques suggest that trabecular skeletal deterioration as well as clinically silent vertebral fractures and nephrolithiasis are common. Nonclassical targets of asymptomatic PHPT as well as the effect of vitamin D deficiency and treatment upon PHPT presentation have been the subject of recent intense investigation. Read More

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July 2018
3 Reads

Updates in the Metabolic Management of Calcium Stones.

Curr Urol Rep 2018 Apr 16;19(6):41. Epub 2018 Apr 16.

Department of Urology, University of Wisconsin School of Medicine and Public Health, 1685 Highland Avenue, 3258 Medical Foundation Centennial Building, Madison, WI, 53705-2281, USA.

Purpose Of Review: Urinary risk factors, such as hypercalciuria, hypocitraturia, and hyperoxaluria, either in combination or alone, are associated with calcium stones. Dietary habits as well as underlying medical conditions can influence urinary risk factors. Evaluation of the conglomerate of patients' stone risks provides evidence for individualized medical management, an effective and patient-supported approach to prevention. Read More

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April 2018
1 Read

Calcium-creatinine ratio in a morning urine sample for the estimation of hypercalciuria associated with non-glomerular hematuria observed in children and adolescents.

Bol Med Hosp Infant Mex 2018 ;75(1):41-48

Departamento de Estudios de la Función Renal, Servicio de Laboratorio Clínico, Hospital Pediátrico Docente Juan Manuel Márquez, La Habana, Cuba.

Background: Hypercalciuria might be revealed during the differential diagnosis of hematuria accompanying renal lithiasis (RL). In spite of this, diagnostic accuracy of calcium urinary excretion might be affected by incomplete 24-hour urine collections. In the present study, the diagnostic utility of calcium/creatinine (ICaCre) index for determining hypercalciuria associated with non-glomerular hematuria (NGH) and RL was assessed. Read More

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January 2018

[Changes in the concentration of urolitiasis markers depending on stone-forming activity in patients with recurrent urolithiasis].

Urologiia 2018 Mar(1):15-19

Medical Research and Educational Center, Lomonosov MSU, Moscow, Russia.

The study aimed to investigate the changes in the concentration of bikunin, osteopontin, and nephrocalcin, depending on the changes in the renal stone-forming activity in patients with recurrent urolithiasis.

Materials And Methods: The study comprised 152 patients with recurrent calcium oxalate stones at various localizations. Patients of the study group (n=78) were administered complex preventive treatment (water load, Blamaren, thiazide diuretics, oral calcium supplementation) aimed at reducing the activity of urolithiasis. Read More

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Current treatment of hypoparathyroidism: Theory versus reality waiting guidelines for children and adolescents.

Acta Biomed 2018 Mar 27;89(1):122-131. Epub 2018 Mar 27.

.

The diagnosis of hypoparathyroidism(HPT)is readily made in the presence of hypocalcemia with markedly reduced or absent parathormone (PTH) levels. Currently available treatments for HPT include high dose vitamin D (ergocalciferol, D2 and cholecalciferol, D3) or, the active metabolite dihydroxy vitamin D (calcitriol), in addition to calcium supplements.This regimen, if not well monitored, can lead to hypercalciuria, as PTH deficiency impairs renal calcium reabsorption. Read More

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[Clinical features and genetic variants of Dent disease in 10 children].

Zhonghua Er Ke Za Zhi 2018 Apr;56(4):289-293

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.

To summarize the clinical features and genetic analysis results of 10 children with Dent disease. The clinical data and gene test results of 10 boys aged from 8 months to 12 years with Dent disease diagnosed in Children's Hospital of Nanjing Medical University from January 2014 to July 2017 were analyzed retrospectively. All patients had insidious onset, 5 cases were found to have proteinuria on routine urine examination after hospitalization duo to other diseases, 4 cases were admitted to hospital because increased foams in the urine, and 1 case was found to have proteinuria on health checkup. Read More

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April 2018
1 Read

[Disturbances of calcium metabolism and vitamin D supplementation in sarcoidosis - two-way street].

Pol Merkur Lekarski 2018 Mar;44(261):147-149

1st Department of Lung Diseases, Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

The role of vitamin D in the human body is not limited only to the regulation of calcium metabolism and secondary to the impact on bones. Recent studies have shown the influence of vitamin D level on muscles, on the risk of cancer, diabetes, hypertension and pulmonary diseases, including granulomatous diseases. Sarcoidosis is a granulomatous disease of unknown etiology. Read More

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March 2018
2 Reads

Non-parathyroid hypercalcemia associated with paraffin oil injection in 12 younger male bodybuilders: a case series.

Eur J Endocrinol 2018 Jun 29;178(6):K29-K37. Epub 2018 Mar 29.

Department of Endocrinology and Internal MedicineTHG, Aarhus University Hospital, Aarhus, Denmark.

Introduction: Injection of paraffin oil to augment muscles size is a troubling phenomenon known to cause a foreign body reaction with formation of granulomas. In a few case reports, long-term side effects have been reported in terms of hypercalcemia and renal failure.

Methods: We identified a case series of 12 male bodybuilders presenting with non-parathyroid hypercalcemia who previously had injected paraffin oil to increase muscles size. Read More

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Urinary stone risk factors in the descendants of patients with kidney stone disease.

Pediatr Nephrol 2018 Jul 28;33(7):1173-1181. Epub 2018 Mar 28.

Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok, 10150, Thailand.

Background: Evidence has indicated that immediate family members of nephrolithiasis patients had high opportunity to develop stones. However, they are usually not regarded to be at risk, since it is unclear if there are any lithogenic abnormalities found in non-stone-forming nephrolithiasis relatives. Our aim was to investigate urinary metabolic abnormalities in the children of nephrolithiasis patients, compared with the general population. Read More

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July 2018
5 Reads

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).

Clin Chim Acta 2018 Jul 21;482:8-13. Epub 2018 Mar 21.

Laboratory of Clinical Pathology and Advanced Molecular Diagnostics, Istituto Dermopatico dell'Immacolata -IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Roma, Italy. Electronic address:

Introduction: Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D catabolism pathway, resulting in a syndrome characterized by recurrent hypercalcemia, hypercalciuria and suppressed parathyroid hormone (PTH) levels. In these patients, the genetic evaluation of CYP24A1 is an important diagnostic tool, allowing the definitive diagnosis of IIH. Read More

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July 2018
2 Reads

Vitamin D, Hypercalciuria and Kidney Stones.

Nutrients 2018 Mar 17;10(3). Epub 2018 Mar 17.

Department: UMR S 1155, Sorbonne Université-UPMC Paris 06, F-75020 Paris, France.

The estimated lifetime risk of nephrolithiasis is growing nowadays, and the formation of kidney stones is frequently promoted by hypercalciuria. Vitamin D, and especially its active metabolite calcitriol, increase digestive calcium absorption-as urinary calcium excretion is directly correlated with digestive calcium absorption, vitamin D metabolites could theoretically increase calciuria and promote urinary stone formation. Nevertheless, there was, until recently, low evidence that 25-hydroxyvitamin D serum levels would be correlated with kidney stone formation, even if high calcitriol concentrations are frequently observed in hypercalciuric stone formers. Read More

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Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.

Clin Genet 2018 Jul 13;94(1):187-188. Epub 2018 Mar 13.

Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions. Read More

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July 2018
2 Reads

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

Case Rep Pediatr 2018 21;2018:9175271. Epub 2018 Feb 21.

Medical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. Read More

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February 2018
3 Reads

Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI.

J Musculoskelet Neuronal Interact 2018 Mar;18(1):76-80

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.

Children with osteogenesis imperfecta (OI) type VI often have high fracture rates despite the current standard treatment with bisphosphonates. Subcutaneous injections of denosumab have been proposed as an alternative treatment approach, but safety data on denosumab in children are limited. Here we describe fluctuations in bone and mineral metabolism during denosumab treatment in four children with OI type VI who started denosumab (basic protocol: 1 mg per kg body mass every 3 months) between 1. Read More

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March 2018
1 Read

Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis.

J Coll Physicians Surg Pak 2018 Mar;28(3):S21-S22

Department of Medicine, Al-Amiri Hospital, Kuwait.

Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. Read More

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March 2018
3 Reads

Role of FGF23 in Pediatric Hypercalciuria.

Biomed Res Int 2017 31;2017:3781525. Epub 2017 Dec 31.

Bone and Mineral Disorders Clinic, Section of Pediatric Nephrology, Children's Mercy Hospital and Clinics, University of Missouri at Kansas City, Kansas City, MO, USA.

Background: This study explored the possible role of FGF23 in pediatric hypercalciuria.

Methods: Plasma FGF23 was measured in 29 controls and 58 children and adolescents with hypercalciuria: 24 before treatment (Pre-Treated) and 34 after 6 months of treatment (Treated). Hypercalciuric patients also measured serum PTH hormone, 25(OH)vitD, phosphate, calcium, creatinine, and 24 h urine calcium, phosphate, and creatinine. Read More

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December 2017

A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole.

Case Rep Nephrol Dial 2017 Sep-Dec;7(3):167-171. Epub 2017 Dec 18.

Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA.

CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. Read More

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December 2017
3 Reads

MILK-ALKALI SYNDROME (MAS) as a complication of the treatment of hypoparathyroidism.

Endokrynol Pol 2018 Feb 14. Epub 2018 Feb 14.

Warsaw University of Medicine.

Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on the duration of hypoparathyroidism treatment, although it is closely related to the applied therapy, especially the dose of calcium carbonate and active vitamin D preparations. Read More

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February 2018
2 Reads

Study of Urine Composition of Patients With Recurrent Nephrolithiasis in Lorestan, Iran.

Iran J Kidney Dis 2018 01;12(1):22-26

Department of Nephrology, Lorestan University of Medical Sciences, Khorramabad, Iran.

Introduction: Nephrolithiasis is one of the most common urinary tract diseases. After the first episode of urinary calculus, the risk of recurrence is nearly 40% to 50% at 5 years. Nephrolithiasis is a systemic disease that is associated with some metabolic disorders. Read More

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January 2018
3 Reads

Metabolic evaluation of children with urolithiasis.

Urol Ann 2018 Jan-Mar;10(1):94-99

Department of Urology and Renal Transplantation, Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India.

Aim: The aim of the study is to identify the prevalence of metabolic abnormalities in children with urolithiasis.

Materials And Methods: This is a prospective study; all children below 15 years who are found to have urolithiasis were prospectively evaluated with relevant history, clinical examination, and urine and serum testing. Metabolic workup includes complete urine examination, urine culture and sensitivity, and 24-h urinary analysis (lithorisk profile). Read More

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February 2018
1 Read

Urinary Stone Disease: Diagnosis, Medical Therapy, and Surgical Management.

Med Clin North Am 2018 Mar 9;102(2):265-277. Epub 2017 Dec 9.

Department of Urology, The James Buchanan Brady Urological Institute, Johns Hopkins Hospital, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Marburg 134, Baltimore, MD 21287, USA.

Clinical suspicion of urolithiasis should be evaluated with low-dose computed tomography as the first-line imaging modality for nonpregnant, adult patients. A period of observation may be appropriate for ureteral stones less than 10 mm, and medical expulsive therapy may be beneficial for facilitating passage of distal ureteral stones. Regardless of stone type, patients should adhere to a low-sodium diet and attempt to achieve a urine volume of more than 2. Read More

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March 2018
3 Reads

Renal impairment in hypophosphatasia.

Authors:
J Bacchetta

Arch Pediatr 2017 May;24(5S2):5S93-5S95

Service de néphrologie rhumatologie dermatologie pédiatriques, centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron Cedex; faculté de médecine Lyon-Est, université de Lyon, INSERM U 1033, LYOS, prévention des maladies osseuses, 69008 Lyon, France. Electronic address:

Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/hypercalciuria or exposure to toxic agents. The objectives of this review are to describe the different renal lesions observed in HPP, and the therapeutic measures that can be applied (in particular, thiazide diuretics). Read More

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May 2017
3 Reads

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Gene 2018 Apr 31;649:23-26. Epub 2018 Jan 31.

Dr. v. Hauner Children's Hospital, Pediatric Nephrology, Ludwig-Maximilians University, Munich, Germany.

Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Read More

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April 2018
4 Reads

[Idiopathic hypercalciuria. Diagnosis and treatment].

Urologiia 2017 Dec(6):112-119

I.M. Sechenov First MSMU, Moscow, Russia.

Most patients with idiopathic hypercalciuria and calcium nephrolithiasis have a family history of the disease. Idiopathic hypercalciuria is a metabolic abnormality with various causes and developmental pathways. The systematic review describes specific mutations associated with idiopathic hypercalciuria and nephrolithiasis. Read More

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December 2017
1 Read

Hyperuricosuric calcium urolithiasis.

J Nephrol 2018 Apr 24;31(2):189-196. Epub 2018 Jan 24.

Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-8885, USA.

Hyperuricosuric calcium urolithiasis is a condition of mixed calcium oxalate stones characterized by hyperuricosuria either in isolation or in conjunction with other risk factors for calcium oxalate stones such as hypercalciuria, hyperoxaluria, and hypocitraturia. There are three proposed physicochemical models of pathogenesis where urate in its crystalline phase via heterogeneous nucleation, in its colloidal phase via removal of crystallization inhibitors, and in solution via precipitation crystallization, can all increase propensity to calcium oxalate precipitation. Regardless of the model, the phenomenologic observation of urate increasing calcium oxalate precipitation appears solid. Read More

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April 2018
4 Reads

[Calcium response to vitamin D supplementation].

Medicina (B Aires) 2018 ;78(1):6-10

Instituto de Investigaciones Metabólicas, Universidad del Salvador, Buenos Aires, Argentina.

Several studies show the importance of serum vitamin D sufficient levels to prevent multiple chronic diseases. However, vitamin D supplementation and its effects on urine calcium excretion remain controversial. The objective of this prospective and interventional study was to evaluate urine calcium excretion in women with normal calciuria or hypercalciuria, once serum vitamin D sufficiency was achieved. Read More

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January 2018
1 Read

Deficiency of Carbonic Anhydrase II Results in a Urinary Concentrating Defect.

Front Physiol 2017 5;8:1108. Epub 2018 Jan 5.

Department of Physiology, University of Alberta, Edmonton, AB, Canada.

Carbonic anhydrase II (CAII) is expressed along the nephron where it interacts with a number of transport proteins augmenting their activity. Aquaporin-1 (AQP1) interacts with CAII to increase water flux through the water channel. Both CAII and aquaporin-1 are expressed in the thin descending limb (TDL); however, the physiological role of a CAII-AQP1 interaction in this nephron segment is not known. Read More

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January 2018
2 Reads

Assessment of Cross-correlations Between Selected Macromolecules in Urine of Children with Idiopathic Hypercalciuria.

Urol J 2018 Jan 21. Epub 2018 Jan 21.

Military Institute of Hygiene and Epidemiology, Department of Regenerative Medicine and Cell Biology, Warsaw, Poland.

Purpose: The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria.

Materials And Methods: The study included 90 subjects aged from 12 months to 18 years. The study group comprised 57 subjects- children with urinary tract lithiasis in the course of idiopathic hypercalciuria and the control group - 33 healthy children with no history of urolithiasis. Read More

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January 2018
1 Read

Current opinions on nephrolithiasis associated with primary hyperparathyroidism.

Urolithiasis 2018 Jan 19. Epub 2018 Jan 19.

Department of Urology, Jiangsu Province Hospital of TCM, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China.

Nephrolithiasis is a common urological disease and could be secondary to primary hyperparathyroidism (PHPT). PHPT is traditionally characterised with hypercalcaemia. Recently, a normocalcemic PHPT has been officially recognised at the International Workshops. Read More

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January 2018
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New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.

Kidney Dis (Basel) 2017 Dec 24;3(3):98-105. Epub 2017 Aug 24.

Department of Cardiothoracic and Respiratory Science, University of Campania "Luigi Vanvitelli," Naples, Italy.

Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either , encoding the AE1 anion exchanger, or and , encoding for the B1 and a4 subunits of the vHATPase, respectively. Read More

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December 2017
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Idiopathic hypercalciuria: Can we prevent stones and protect bones?

Cleve Clin J Med 2018 Jan;85(1):47-54

Clinical Associate Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, The Ohio State University, Columbus, OH, USA.

Idiopathic hypercalciuria increases the risk of urinary stones and osteoporosis. The aim of this review is to delineate our current understanding of idiopathic hypercalciuria in the context of bone health, specifically its definition, causes, epidemiology, laboratory evaluation, and potential treatments. Read More

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January 2018
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Urinary Calcium Excretion and Risk of Chronic Kidney Disease in the General Population.

Kidney Int Rep 2017 May 31;2(3):366-379. Epub 2016 Dec 31.

Department of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Introduction: High urinary calcium excretion (UCaE) has been shown to lead to accelerated renal function decline in individuals with renal tubular diseases. It is not known whether this association also exists in the general population. Therefore, we investigated whether high UCaE is associated with risk of developing chronic kidney disease (CKD) in community-dwelling subjects. Read More

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May 2017
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