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    3742 results match your criteria Hypercalciuria

    1 OF 75

    Childhood sustained hypercalcemia: A diagnostic challenge.
    J Clin Res Pediatr Endocrinol 2017 Apr 26. Epub 2017 Apr 26.
    Objective: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention.

    Methods: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. Read More

    Physicochemical factors of the urine of children with hypercalciuria.
    Arch Esp Urol 2017 Apr;70(3):342-348
    Sección de Nefrología Pediátrica. Hospital Universitario Donostia. San Sebastián. Servicio de Pediatría. Hospital Universitario Donostia. San Sebastián. España.
    Objective: Hypercalciuria is a common lithogenic risk factor. The aim of this study was, first, to study the characteristics of urine biochemical factors of children with hypercalciuria (HC) and compare them with those of children without hypercalciuria. Second, to analyze the differences between children with HC and lithiasis (HCL) and children with HC and no lithiasis (HCNL). Read More

    Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.
    BMC Nephrol 2017 Apr 18;18(1):136. Epub 2017 Apr 18.
    Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
    Background: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology.

    Methods: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted. Read More

    Thiazide Treatment in Primary Hyperparathyroidism-A New Indication for an Old Medication?
    J Clin Endocrinol Metab 2017 Apr;102(4):1270-1276
    Institute of Endocrinology, Diabetes and Metabolism, and.
    Context: There is no therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazides are used for idiopathic hypercalciuria but are avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. Read More

    Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
    J Am Soc Nephrol 2017 Apr 5. Epub 2017 Apr 5.
    Department of Genetics and.
    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. Read More

    Parathyroid hormone controls paracellular Ca(2+) transport in the thick ascending limb by regulating the tight-junction protein Claudin14.
    Proc Natl Acad Sci U S A 2017 Apr 3;114(16):E3344-E3353. Epub 2017 Apr 3.
    Division of Bone and Mineral Research, Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, Boston, MA 02115;
    Renal Ca(2+) reabsorption is essential for maintaining systemic Ca(2+) homeostasis and is tightly regulated through the parathyroid hormone (PTH)/PTHrP receptor (PTH1R) signaling pathway. We investigated the role of PTH1R in the kidney by generating a mouse model with targeted deletion of PTH1R in the thick ascending limb of Henle (TAL) and in distal convoluted tubules (DCTs): Ksp-cre;Pth1r(fl/fl) Mutant mice exhibited hypercalciuria and had lower serum calcium and markedly increased serum PTH levels. Unexpectedly, proteins involved in transcellular Ca(2+) reabsorption in DCTs were not decreased. Read More

    Calcium-to-Citrate Ratio Distinguishes Solitary and Recurrent Urinary Stone Forming Children.
    J Urol 2017 Mar 30. Epub 2017 Mar 30.
    Children's Hospital Medical Center, Cincinnati, Ohio; Laboratory Corporation of America® Holdings, Chicago, Illinois (JA).
    Purpose: The prevalence of urinary stone disease is increasing in children. We previously reported a high rate of urinary metabolic abnormalities, including hypercalciuria and hypocitraturia, in stone forming children. In this study we determined whether calcium-to-citrate ratio could help predict those at risk for recurrent stone formation. Read More

    Diagnosis and treatment of Dent disease in 10 Chinese boys.
    Intractable Rare Dis Res 2017 Feb;6(1):41-45
    Department of Pediatric, Peking University First Hospital, Beijing, China.
    Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. Read More

    Influence of Feeding Types during the First Months of Life on Calciuria Levels in Healthy Infants: A Secondary Analysis from a Randomized Clinical Trial.
    Ann Nutr Metab 2017 29;70(2):132-139. Epub 2017 Mar 29.
    Universitat Rovira i Virgili, IISPV, Reus, Spain.
    Background/aims: Dietary factors can modify calciuria. We aim to investigate urinary calcium excretion in healthy infants according to their protein.

    Methods: Secondary data analysis from a randomized clinical trial where healthy term infants were randomized after birth to a higher (HP) or lower (LP) protein content formula that was consumed until age 1 year. Read More

    Association between Circulating Vitamin D Level and Urolithiasis: A Systematic Review and Meta-Analysis.
    Nutrients 2017 Mar 18;9(3). Epub 2017 Mar 18.
    Department and Institute of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Wuhan 430030, China.
    Many studies compared the serum/plasma 1,25 dihydroxyvitamin D₃ (1,25(OH)₂D) and 25 hydroxyvitamin D₃ (25(OH)D) between people with and without nephrolithiasis, and their results were conflicting. After systematically searching PubMed, Web of Science, The Cochrane Library, CNKI, and the Wanfang Database, we conducted a meta-analysis. Thirty-two observational studies involving 23,228 participants were included. Read More

    Whey protein and albumin effects upon urinary risk factors for stone formation.
    Urolithiasis 2017 Mar 22. Epub 2017 Mar 22.
    Nephrology Division, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu 740, Vila Clementino, CEP 04023-900, São Paulo, SP, Brazil.
    Protein supplements are consumed for an expected increase in muscle mass and improved exercise performance, but as their impact on lithogenic parameters are unknown, we aimed to evaluate the effects of Whey protein (WP) and Albumin upon the risk factors for nephrolithiasis. WP or Albumin supplements (one scoop/day) were administered for 3 days to 18 healthy volunteers, with 1-week washout period between them. Serum and 24-h urine samples were collected at baseline and after completing each intervention. Read More

    CYP3A4 induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients with CYP24A1 Mutations.
    J Clin Endocrinol Metab 2017 Mar 3. Epub 2017 Mar 3.
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria, and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low calcium diet, reduced dietary vitamin D intake and limited sunlight exposure. Read More

    Effect of Vitamin D replacement in Primary Hyperparathyroidism with concurrent Vitamin D deficiency: a systematic review and meta-analysis.
    Minerva Endocrinol 2017 Mar 14. Epub 2017 Mar 14.
    Division of Endocrinology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
    Introduction: We conducted a meta-analysis to assess the effects of vitamin D replacement on biochemical and skeletal parameters in subjects with mild primary hyperparathyroidism (PHPT) and coexistent vitamin D deficiency.

    Evidence Acquisition: A systematic search of all English-language medical literature published from 1980 till May 2016 using Pubmed, Embase and Ovid was performed. Nine observational studies were evaluated after fulfilling the inclusion and exclusion criteria. Read More

    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
    PLoS One 2017 13;12(3):e0173581. Epub 2017 Mar 13.
    Pediatric Nephrology, Vall d'Hebron University Hospital, Universitat Autonoma, Barcelona, Spain.
    Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p. Read More

    The impact of hypomagnesemia on erectile dysfunction in elderly, non-diabetic, stage 3 and 4 chronic kidney disease patients: a prospective cross-sectional study.
    Clin Interv Aging 2017 24;12:437-444. Epub 2017 Feb 24.
    Division of Internal Medicine.
    Background: Erectile dysfunction (ED) is common in older men with chronic kidney disease. Magnesium is essential for metabolism of nitric oxide which helps in penile erection. There is little information available about the influence of serum magnesium on ED. Read More

    [Quantitative mineralogical analyzes of kidney stones and diagnosing metabolic disorders in female patients with calcium oxalate urolithiasis].
    Urologiia 2016 Feb(1):11-15
    Department of Surgery and Urology, IvSMA of Minzdrav of Russia.
    Objective: To conduct a complex examination of female patients with calcium oxalate urolithiasis to detect metabolic disorders, leading to stone formation.

    Materials And Methods: The study was carried out using complex physical and chemical methods, including quantitative X-ray phase analysis of urinary stones, pH measurement, volumetry, urine and blood spectrophotometry.

    Results: Quantitative mineralogical composition of stones, daily urine pH profile, daily urinary excretion of ions of calcium, magnesium, oxalate, phosphate, citrate and uric acid were determined in 20 female patients with calcium oxalate stones. Read More

    Management of Primary Hyperparathyroidism: Can We Do Better?
    Am Surg 2017 Jan;83(1):64-70
    The Oregon Clinic, Portland, Oregon, USA.
    The failure to follow national guidelines in management of various diseases has been previously established. We sought to quantify primary care providers' familiarity with primary hyperparathyroidism as it affects adherence to the 2009 National Institute of Health (NIH) consensus recommendations in treatment of primary hyperparathyroidism. A large primary care group was surveyed to determine their familiarity with the 2009 NIH consensus recommendations for management of primary hyperparathyroidism (PHPT). Read More

    A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.
    Hum Mutat 2017 Feb 22. Epub 2017 Feb 22.
    Department of Pediatrics, The University of Alberta, Edmonton, Alberta, T6G 2R7, Canada.
    The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Read More

    [Etiopathogenic factors of the different types of urinary litiasis.]
    Arch Esp Urol 2017 Jan;70(1):40-50
    Unidad de Urolitiasis y Endourología. Servicio de Urología. Complejo Hospitalario Universitario Granada. España.
    In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. Read More

    Multiple sclerosis and nephrolithiasis: a matched-case comparative study.
    BJU Int 2017 Feb 20. Epub 2017 Feb 20.
    Cleveland Clinic Glickman Urological Kidney Institute, Cleveland, OH, USA.
    Objective: To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation.

    Patients And Methods: In this retrospective case-control study, we identified patients diagnosed with MS and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to two controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index, and sex. Read More

    Vitamin D supplementation guidelines.
    J Steroid Biochem Mol Biol 2017 Feb 12. Epub 2017 Feb 12.
    Medicine, Endocrinology & Nutrition, Cardio Metabolic Institute, NJ, USA.
    Research carried out during the past two-decades extended the understanding of actions of vitamin D, from regulating calcium and phosphate absorption and bone metabolism to many pleiotropic actions in organs and tissues in the body. Most observational and ecological studies report association of higher serum 25-hydroxyvitamin D [25(OH)D] concentrations with improved outcomes for several chronic, communicable and non-communicable diseases. Consequently, numerous agencies and scientific organizations have developed recommendations for vitamin D supplementation and guidance on optimal serum 25(OH)D concentrations. Read More

    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 May 13;28(5):1761-1762. 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 Jun 10;32(6):987-996. 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 Jun 10;32(6):1029-1033. 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 May 27;91(5):1070-1087. 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 Apr 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 5. Epub 2017 Jan 5.
    Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas; Division of Nephrology, Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas; Department of Physiology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas.
    Purpose: 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, although this association was shown in small cross-sectional studies. We explored the association of urine calcium with bone mineral density in kidney stone formers. 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

    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 2017 Apr 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

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