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    3721 results match your criteria Hypercalciuria

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    Tubular Dysfunction Mimicking Dent's Disease in 2 Infants Born with Extremely Low Birth Weight.
    Case Rep Nephrol Dial 2017 Jan-Apr;7(1):13-17. Epub 2017 Jan 20.
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
    Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative. Read More

    Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria?
    Osteoporos Int 2017 Feb 13. Epub 2017 Feb 13.
    Laboratory for Research of Musculoskeletal System "Theodoros Garofalidis", University of Athens, KAT Hospital, 10 Athinas Str., Kifissia, 145 61, Athens, Greece.

    Clinical and molecular aspects of distal renal tubular acidosis in children.
    Pediatr Nephrol 2017 Feb 10. Epub 2017 Feb 10.
    Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
    Background: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. Read More

    Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria.
    Pediatr Nephrol 2017 Feb 10. Epub 2017 Feb 10.
    Department of Pediatric Urology, Children's Hospital of Michigan, Detroit, MI, USA.
    Background: Using a proteomic approach, we aimed to identify and compare the urinary excretion of proteins involved in lipid transport and metabolism in children with kidney stones and hypercalciuria (CAL), hypocitraturia (CIT), and normal metabolic work-up (NM), and in healthy controls (HCs). Additionally, we aimed to confirm these results using ELISA, and to examine the relationship between the urinary excretion of selected proteins with demographic, dietary, blood, and urinary parameters.

    Methods: Prospective, controlled, pilot study of pooled urine from CAL, CIT, and NM versus age- and gender-matched HCs, using liquid chromatography-mass spectrometry. Read More

    Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3
.
    Horm Res Paediatr 2017 Feb 2. Epub 2017 Feb 2.
    Background/aims: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. Read More

    Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus.
    Kidney Int 2017 Jan 27. Epub 2017 Jan 27.
    Systems Biology Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Epithelial Systems Biology Laboratory, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA. Electronic address:
    Hypercalcemia can cause renal dysfunction such as nephrogenic diabetes insipidus (NDI), but the mechanisms underlying hypercalcemia-induced NDI are not well understood. To elucidate the early molecular changes responsible for this disorder, we employed mass spectrometry-based proteomic analysis of inner medullary collecting ducts (IMCD) isolated from parathyroid hormone-treated rats at onset of hypercalcemia-induced NDI. Forty-one proteins, including the water channel aquaporin-2, exhibited significant changes in abundance, most of which were decreased. Read More

    Prevalence of hypercalciuria and urinary calcium excretion in school-aged children in the province of Tokat.
    Turk Pediatri Ars 2016 Dec 1;51(4):193-197. Epub 2016 Dec 1.
    Department of Biostatistics, Gaziosmanpaşa University School of Medicine, Tokat, Turkey.
    Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results in urolithiasis. Urinary calcium excretion varies for geographic areas. We aimed to assess percentiles of urinary calcium excretion and prevalence of hypercalciuria for school-aged children in Tokat (city located in inner northern region of Turkey). Read More

    Diseases associated with calcium-sensing receptor.
    Orphanet J Rare Dis 2017 Jan 25;12(1):19. Epub 2017 Jan 25.
    Service d'Endocrinologie et Métabolisme, Hôpital C Huriez Centre Hospitalo-universitaire de Lille, 1 rue Polonovski, 59 037, Lille Cedex, France.
    The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Read More

    Functional coupling of V-ATPase and CLC-5.
    World J Nephrol 2017 Jan;6(1):14-20
    Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, Department of Internal Medicine, Faculty of Medicine, the University of Tokyo Hospital, Tokyo 113-8655, Japan.
    Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification. Read More

    A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.
    Bone 2017 Jan 14;97:121-125. Epub 2017 Jan 14.
    Center for Endocrinology, Diabetes and Metabolism, Division of Endocrinology, Children's Hospital Los Angeles, Los Angeles, CA, United States; Keck School of Medicine of University of Southern California, Los Angeles, CA, United States. Electronic address:
    Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. Read More

    CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.
    J Steroid Biochem Mol Biol 2017 Jan 16. Epub 2017 Jan 16.
    Yale University, School of Medicine, New Haven, CT 06520-8064, United States. Electronic address:
    CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH)2D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH)2D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite and storage form of the vitamin. CYP24A1 can be stimulated hormonally by 1,25-(OH)2D and by FGF23, whereas CYP27B1, encoding the vitamin D-1α-hydroxylase, is stimulated hormonally by parathyroid hormone (PTH) and downregulated by FGF23. Read More

    Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets?
    J Clin Res Pediatr Endocrinol 2017 Jan 12. Epub 2017 Jan 12.
    Objective: Stoss treatment has also been suggested due to non-skeletal benefits of vitamin D in adults, but no sufficient data are present about the optimal dose of vitamin D replacement in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10.000 IU/kg and 300. Read More

    Relationship between Urinary Calcium and Bone Mineral Density in Patients with Calcium Nephrolithiasis.
    J Urol 2017 Jan 4. Epub 2017 Jan 4.
    Charles and Jane Pak Center for Mineral Metabolism and Clinical Research; Department of Internal Medicine, Division of Nephrology; Department of Physiology, The University of Texas Southwestern Medical Center at Dallas, Dallas, TX.
    Background: Calcium nephrolithiasis is associated with an increased risk of osteoporosis and fracture. Hypercalciuria has been assumed to be pathogenic for bone loss in kidney stone formers (KSF), although this association was shown in small cross-sectional studies. We explored the association of urine calcium (UCaV) with bone mineral density (BMD) in KSF. Read More

    [Clinical characteristics of adult-onset primary hypoparathyroidism: a retrospective analysis of 200 cases].
    Zhonghua Nei Ke Za Zhi 2017 Jan;56(1):19-23
    Key Laboratory of Endocrinology of National Health And Family Planning Commission, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Objective: To study the clinical characteristics of primary hypoparathyroidism in adults. Methods: The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively. Among them, 128 cases were followed up for a median period of 3 years. Read More

    Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
    Hum Genome Var 2016 8;3:16042. Epub 2016 Dec 8.
    Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.
    OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Read More

    Evaluating the effectiveness of adding magnesium chloride to conventional protocol of citrate alkali therapy on kidney stone size.
    Adv Biomed Res 2016 26;5:168. Epub 2016 Oct 26.
    Department of Pediatric Nephrology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: Potassium citrate (K-Cit) is one of the therapeutic solutions broadly used in patients with urolithiasis. However, recent studies have shown that it is not so effective. Therefore, the goal of our study was to evaluate the effect of a combination of K-Cit - MgCl2 oral supplements, on urinary stone size. Read More

    Outcomes of living kidney donors with medullary sponge kidney.
    Clin Kidney J 2016 Dec 22;9(6):866-870. Epub 2015 Oct 22.
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA.
    Background: Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied.

    Methods: We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. Read More

    The impact of SGLT2 inhibitors, compared with insulin, on diabetic bone disease in a mouse model of type 1 diabetes.
    Bone 2016 Oct 28. Epub 2016 Oct 28.
    University of Kentucky Barnstable Brown Diabetes Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Department of Pediatrics, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
    Skeletal co-morbidities in type 1 diabetes include an increased risk for fracture and delayed fracture healing, which are intertwined with disease duration and the presence of other diabetic complications. As such, chronic hyperglycemia is undoubtedly a major contributor to these outcomes, despite standard insulin-replacement therapy. Therefore, using the streptozotocin (STZ)-induced model of hypoinsulinemic hyperglycemia in DBA/2J male mice, we compared the effects of two glucose lowering therapies on the fracture resistance of bone and markers of bone turnover. Read More

    Vitamin D deficiency is prevalent among idiopathic stone formers, but does correction pose any risk?
    Urolithiasis 2016 Dec 16. Epub 2016 Dec 16.
    UCL Centre for Nephrology, Department of Clinical Biochemistry, Royal Free Campus and Hospital, Rowland Hill Street, London, NW3 2PF, UK.
    While vitamin D (vitD) deficiency is thought to contribute to poor health in a variety of ways and should be corrected, there is still concern about giving vitD supplements to patients with a history of nephrolithiasis. The aim is to study the prevalence of vitD deficiency and the effect on stone risk of cholecalciferol (vitD3) supplementation in a cohort of idiopathic stone formers (ISF). We screened for vitD deficiency and urinary measures of stone risk, comparing vitD deficient (serum 25-OH vitD ≤30 nmol/L; ≤12 ng/mL) with vitD insufficient (31-75 nmol/L; 13-30 ng/mL) or vitD replete (>75 nmol/L; >30 ng/mL); we investigated the effect of giving vitD3 (20,000 IU orally, weekly for 4 months) to 37 of the vitD deficients. Read More

    Thiazide Treatment in Primary Hyperparathyroidism - A New Indication for an Old Medication?
    J Clin Endocrinol Metab 2016 Dec 14:jc20162481. Epub 2016 Dec 14.
    1 Institute of Endocrinology, Diabetes and Metabolism, and.
    Context: There is no available targeted therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazide diuretics are used for idiopathic hypercalciuria but avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. Read More

    Kidney stones: Composition, frequency and relation to metabolic diagnosis.
    Medicina (B Aires) 2016 ;76(6):343-348
    Instituto de Investigaciones Metabólicas, Universidad del Salvador, Buenos Aires, Argentina.
    Nephrolithiasis is one of the most frequent urologic diseases. The aim of this paper is to study the composition and frequency of 8854 patient kidney stones and in a subset of them their metabolic risk factors to be related to their type of calculi. Physicochemical and crystallographic methods were used to assess kidney stone composition. Read More

    Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
    Bone 2016 Dec 7;97:15-19. Epub 2016 Dec 7.
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
    Objective: To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria.

    Subjects: A 54-year-old Vietnamese man, his unaffected two daughters and wife.

    Methods: We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells. Read More

    Phenotype of Dent Disease in a Cohort of Indian Children.
    Indian Pediatr 2016 Nov;53(11):977-982
    Department of Pediatrics, AIIMS, New Delhi, India; and *Department of Pediatrics, Research Coordination Center for Rare Diseases, and Kidney Research Institute, Seoul National University College of Medicine, Seoul, Korea. Correspondence to: Prof Arvind Bagga, Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India.
    Objective: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years.

    Design: Case series.

    Setting: Pediatric Nephrology Clinic at a referral center in Northern India. Read More

    [Osteoporosis and Mechano-biosciences.]
    Clin Calcium 2016;26(12):1717-1727
    Fujii Memorial Institute of Medical Sciences, Tokushima University, Japan.
    Mechanical unloading due to long-term bedrest or microgravity during spaceflight causes a devastating influence on bone. Although bisphosphonates can prevent bone loss and hypercalciuria by mechanical unloading for up to 6 months, the influence of unloading for longer period of time is unknown. This is because mechanical loading is one of the most important stimuli for bone formation. Read More

    Utility of optical coherence tomography in a case of bilateral congenital macular coloboma.
    Indian J Ophthalmol 2016 Sep;64(9):683-685
    Department of Nursing, Catholic University of Murcia, Murcia, Spain.
    Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Read More

    The role of the 24-h urine collection in the management of nephrolithiasis.
    Int J Surg 2016 Dec 11;36(Pt D):633-637. Epub 2016 Nov 11.
    Litholink Corporation, Laboratory Corporation of America(®) Holdings, USA.
    Recurrent nephrolithiasis is a common chronic condition that is often preventable with dietary modification and pharmacologic therapy. Patients with recurrent kidney stones should have a metabolic evaluation, consisting of radiologic studies to assess stone burden, crystallographic stone analysis, and laboratory studies including standard serum chemistries and 24 h urine collection(s). This article focuses on the interpretation of urine chemistries to identify lithogenic risk factors and assess the contribution of diet to the formation of kidney stones. Read More

    The Modern Metabolic Stone Evaluation in Children.
    Urology 2016 Nov 9. Epub 2016 Nov 9.
    Department of Urology, University of Iowa, Iowa City, IA. Electronic address:
    Objective: To evaluate metabolic abnormalities in a contemporary pediatric population after their first stone episode. The incidence of pediatric nephrolithiasis is increasing and therefore the etiologies contributing to today's pediatric stone formation may also be changing.

    Materials And Methods: A retrospective review of all consecutive children presenting after their first kidney stone between 2000 and 2014 was performed. Read More

    WNK signalling pathways in blood pressure regulation.
    Cell Mol Life Sci 2016 Nov 4. Epub 2016 Nov 4.
    Division of Experimental Medicine and Immunotherapeutics, Department of Medicine, University of Cambridge, Cambridge, CB2 2QQ, UK.
    Hypertension (high blood pressure) is a major public health problem affecting more than a billion people worldwide with complications, including stroke, heart failure and kidney failure. The regulation of blood pressure is multifactorial reflecting genetic susceptibility, in utero environment and external factors such as obesity and salt intake. In keeping with Arthur Guyton's hypothesis, the kidney plays a key role in blood pressure control and data from clinical studies; physiology and genetics have shown that hypertension is driven a failure of the kidney to excrete excess salt at normal levels of blood pressure. Read More

    Serum 1,25-dihydroxyvitamin D as a biomarker of the absence of hypercalciuria in postsurgical hypoparathyroidism.
    J Clin Endocrinol Metab 2016 Nov 4:jc20162987. Epub 2016 Nov 4.
    2 Diabetes Research and Metabolism Unit, Institut de Recerca Hospital Universitari Vall d'Hebron (VHIR), Barcelona, Spain.
    Context: Hypercalciuria is an adverse event of postsurgical hypoparathyroidism treatment which can lead to renal complications. The collection of 24-hour urine to detect hypercalciuria is often considered unreliable.

    Objective: To find useful predictive biomarkers of hypercalciuria in patients with permanent postsurgical hypoparathyroidism under treatment with oral calcium and calcitriol supplements. Read More

    Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
    J Am Soc Nephrol 2016 Nov 1;27(11):3447-3458. Epub 2016 Apr 1.
    Pediatric Nephrology,
    Hypercalciuria is a major risk factor for nephrolithiasis. We previously reported that Uromodulin (UMOD) protects against nephrolithiasis by upregulating the renal calcium channel TRPV5. This channel is crucial for calcium reabsorption in the distal convoluted tubule (DCT). Read More

    [Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis].
    An Pediatr (Barc) 2016 Nov 5;85(5):240-246. Epub 2015 Dec 5.
    Sección de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria Santa Cruz de Tenerife, España.
    Background: In few previous works, it has been reported that hypercalciuria is associated with some types of CAKUT, namely ureteropelvic junction obstruction, vesicoureteral reflux or simple renal cysts. In addition, one higher prevalence of hypercalciuria and/or urolithiasis has been described in their family members compared to the general population. This study was carried out to find out whether children with unilateral renal agenesis (URA) have these features previously described in other CAKUT types. Read More

    Do Overweight and Obese Pediatric Stone Formers Have Differences in Metabolic Abnormalities Compared With Normal-weight Stone Formers?
    Urology 2016 Sep 15. Epub 2016 Sep 15.
    UCSD Department of Urology, Rady Children's Specialists of San Diego, San Diego, CA.
    Objective: To determine if 24-hour urinary parameters in children with nephrolithiasis across 4 institutions were influenced by body mass index (BMI).

    Materials And Methods: The 24-hour urinary parameters obtained from children with nephrolithiasis between 2000 and 2013 were stratified by BMI percentile ≥85th and <85th (overweight and obese patients vs healthy weight, respectively). A total of 206 children were included in the study. Read More

    Hypercalcemia in Patients with Williams-Beuren Syndrome.
    J Pediatr 2016 Nov 26;178:254-260.e4. Epub 2016 Aug 26.
    Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; National Institutes of Health, National Heart, Lung, and Blood Institute, Bethesda, MD. Electronic address:
    Objective: To evaluate the timing, trajectory, and implications of hypercalcemia in Williams-Beuren syndrome (WBS) through a multicenter retrospective study.

    Study Design: Data on plasma calcium levels from 232 subjects with WBS aged 0-67.1 years were compared with that in controls and also with available normative data. Read More

    Impaired urinary osteopontin excretion in Npt2a-/- mice.
    Am J Physiol Renal Physiol 2017 Jan 26;312(1):F77-F83. Epub 2016 Oct 26.
    Section of Endocrinology and Metabolism, Yale University School of Medicine, New Haven, Connecticut;
    Mutations in the renal sodium-dependent phosphate cotransporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis. Oral phosphate supplementation is currently thought to reduce risk by reversing the hypercalciuria, but the exact mechanism remains unclear and the relative contribution of modifiers of mineralization such as osteopontin (Opn) to the formation of renal mineral deposits in renal phosphate wasting disorders has not been studied. We observed a marked decrease of renal gene expression and urinary excretion of Opn in Npt2a(-/-) mice, a mouse model of these disorders, at baseline. Read More

    Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
    Indian Pediatr 2016 Sep;53(9):829-830
    Division of Pediatric Endocrinology, Department of Pediatrics, Bai Jerbai Wadia Hospital for Children, Mumbai, India; *Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, UK; and Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom. Correspondence to: Dr Sudha Rao, D 103, Tycoons Residency, Club Road, Opp. KDMC Ward B Office, Kalyan (West), Thane, India.
    Background: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.

    Case Characteristics: 4. Read More

    Metabolic risk factors in pediatric stone formers: a report from an emerging economy.
    Urolithiasis 2016 Oct 15. Epub 2016 Oct 15.
    Department of Chemical Pathology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
    The goal of this study was to investigate metabolic risk factors in pediatric stone formers in an emerging economy. A prospective, data collection enrolled 250 children age <1-15 years at our center. Risk factors were evaluated by gender and in age groups <1-5, 6-10 and 11-15 years. Read More

    Hyponatremia as presentation in a patient with neurosarcoidosis.
    Reumatol Clin 2016 Oct 5. Epub 2016 Oct 5.
    Istinye University, Faculty of Medicine, LIV Hospital, Department of Rheumatology, Turkey. Electronic address:
    Sarcoidosis is an inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, eye and musculoskeletal system involvement. Hypercalcemia and hypercalciuria are important electrolyte imbalances resulting from sarcoidosis and sometimes they may cause nephrolitiasis and kidney failure. Read More

    Metabolic evaluation in patients with infected nephrolithiasis: Is it necessary?
    Arch Ital Urol Androl 2016 Oct 5;88(3):208-211. Epub 2016 Oct 5.
    Unità Complessa di Urologia, Ospedale Ca'Foncello, Treviso.
    Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Read More

    Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
    Nephrol Dial Transplant 2016 Oct 5. Epub 2016 Oct 5.
    University College London, Institute of Child Health and Great Ormond Street Hospital for Children, National Health Service Trust, London, UK.
    Background: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.

    Methods: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). Read More

    The Calcium-Sensing Receptor in Health and Disease.
    Int Rev Cell Mol Biol 2016 25;327:321-369. Epub 2016 Jun 25.
    Institute of Molecular Biology and Genetics (IBGM), University of Valladolid and National Research Council (CSIC), Valladolid, Spain. Electronic address:
    The extracellular calcium-sensing receptor (CaSR) is a unique G protein-coupled receptor (GPCR) activated by extracellular Ca(2+) and by other physiological cations including Mg(2+), amino acids, and polyamines. CaSR is the most important master controller of the extracellular Ca(2+) homeostatic system being expressed at high levels in the parathyroid gland, kidney, gut and bone, where it regulates parathyroid hormone (PTH) secretion, vitamin D synthesis, and Ca(2+) absorption and resorption, respectively. Gain and loss of function mutations in the CaSR are responsible for severe disturbances in extracellular Ca(2+) metabolism. Read More

    [The clinical characteristics of 128 childhood- and adolescent-onset hypoparathyroidism in Peking Union Medical College Hospital: a retrospective analysis].
    Zhonghua Nei Ke Za Zhi 2016 Oct;55(10):769-773
    Key Laboratory of Endocrinology of National Health And Family Planning Commission, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Objective: To study the clinical characteristics of childhood- and adolescent- onset hypoparathyroidism. Methods: The clinical data of 128 hypoparathyroidism patients with onset before the age of 18 years were collected and analyzed retrospectively. Results: The predominant features of the hypoparathyroidism were carpopedal spasm (89. Read More

    Comparison of 300,000 and 600,000 IU Oral Vitamin-D Bolus for Vitamin-D Deficiency in Young Children.
    Indian J Pediatr 2017 Feb 29;84(2):111-116. Epub 2016 Sep 29.
    Department of Pediatrics, Advanced Pediatric Center, Postgraduate Institute of Medical Education and Research, Sector-12, Chandigarh, 160012, India.
    Objective: To compare the efficacy and safety of 300,000 and 600,000 IU vitamin-D single-oral dose for the treatment of vitamin-D deficiency (VDD) in young children (3 mo - 3 y).

    Methods: This double-blind randomized control trial (Clinical Trail Registration-CTRI/2012/05/002621) was conducted in the Pediatric out-patient department (OPD) at a tertiary-care referral hospital. Children (3 mo - 3 y) with clinical/radiological features suggestive of VDD were screened; those found to be having 25(OH)D below 15 ng/ml and meeting inclusion and exclusion criteria's were enrolled after taking informed consent. Read More

    Derangement of calcium metabolism in diabetes mellitus: negative outcome from the synergy between impaired bone turnover and intestinal calcium absorption.
    J Physiol Sci 2017 Jan 26;67(1):71-81. Epub 2016 Sep 26.
    Center of Calcium and Bone Research (COCAB), Faculty of Science, Mahidol University, Bangkok, Thailand.
    Both types 1 and 2 diabetes mellitus (T1DM and T2DM) are associated with profound deterioration of calcium and bone metabolism, partly from impaired intestinal calcium absorption, leading to a reduction in calcium uptake into the body. T1DM is associated with low bone mineral density (BMD) and osteoporosis, whereas the skeletal changes in T2DM are variable, ranging from normal to increased and to decreased BMD. However, both types of DM eventually compromise bone quality through production of advanced glycation end products and misalignment of collagen fibrils (so-called matrix failure), thereby culminating in a reduction of bone strength. Read More

    A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
    Urolithiasis 2016 Sep 17. Epub 2016 Sep 17.
    Division of Nephrology, Institute of Internal Medicine and Geriatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, 00168, Rome, Italy.
    Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Read More

    Acquired Bartter-Like Phenotype.
    J Assoc Physicians India 2015 Sep;63(9):78-9
    Post Graduate, Department of General Medicine, Vijayanagar Institute of Medical Sciences, Bellary, Karnataka.
    We present a case of middle-aged man who presented with sudden onset of weakness of both upper and lower limbs with hypotension and polyuria without any antecedent illness. Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild hypomagnesemia, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome. Thus a diagnosis of acquired Bartter-like phenotype was made. Read More

    Hypercalcemia, hypercalciuria, and kidney stones in long-term studies of vitamin D supplementation: a systematic review and meta-analysis.
    Am J Clin Nutr 2016 Oct 7;104(4):1039-1051. Epub 2016 Sep 7.
    School of Population Health, University of Auckland, Auckland, New Zealand
    Background: Vitamin D supplementation is increasingly being used in higher doses in randomized controlled trials (RCTs). However, adverse events from very large annual doses of vitamin D have been shown in 2 RCTs, whereas in a third RCT, low-dose vitamin D, with calcium supplements, was shown to increase kidney stone risk.

    Objective: We analyzed the side effects related to calcium metabolism in RCTs, specifically hypercalcemia, hypercalciuria, and kidney stones, in participants who were given vitamin D supplements for ≥24 wk compared with in subjects in the placebo arm. Read More

    MECHANISMS IN ENDOCRINOLOGY: Kidney involvement in patients with primary hyperparathyroidism: an update on clinical and molecular aspects.
    Eur J Endocrinol 2017 Jan 6;176(1):R39-R52. Epub 2016 Sep 6.
    Laboratory of Experimental EndocrinologyIRCCS Istituto Ortopedico Galeazzi, Milan, Italy
    Primary hyperparathyroidism (PHPT) is the third most common endocrine disease. Kidney is a target of both chronic elevated PTH and calcium in PHPT. The classic PHPT complications of symptomatic kidney stones and nephrocalcinosis have become rare and the PHPT current presentation is asymptomatic with uncertain and long-lasting progression. Read More

    [Lithogenic risk in patients from Paraguay with urolithiasis].
    Rev Med Chil 2016 Jun;144(6):716-22
    Instituto de Investigaciones en Ciencias de la Salud, San Lorenzo, Paraguay,
    Unlabelled: The lithogenic risk profile is a graphical representation of metabolic factors and urinary saturation involved in the stone formation with their respective critical values.

    Aim: To determine the lithogenic risk profile in patients with urolithiasis.

    Material And Methods: Personal data such as anthropometric, history of diseases and family history of urolithiasis were recorded. Read More

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