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    Calcitriol treatment in metabolic bone disease of prematurity with elevated parathyroid hormone: A preliminary study.
    J Clin Transl Endocrinol 2015 Mar 22;2(1):14-20. Epub 2014 Dec 22.
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.
    Objective: To describe the association of calcitriol treatment with the change in parathyroid hormone (PTH) and biochemical markers of bone disease in infants with metabolic bone disease of prematurity (MBD) and secondary hyperparathyroidism.

    Study Design: This retrospective chart review examined serum intact PTH, serum calcium (Ca), serum phosphorus (P), serum alkaline phosphatase (APA), urine calcium/creatinine (UCa/Cr), and tubular reabsorption of phosphate (TRP) in 32 infants prior to and following calcitriol treatment for MBD with PTH >100 pg/ml. 25-hydroxyvitamin D concentrations were recorded. Read More

    Medullary nephrocalcinosis in idiopathic hypercalciuria.
    Clin Case Rep 2017 Nov 25;5(11):1903-1904. Epub 2017 Sep 25.
    Division of Nephrology, Hypertension and Renal TransplantationUniversity of FloridaGainesvilleFlorida.
    Idiopathic hypercalciuria is a metabolic abnormality characterized by excessive calcium excretion in the urine with normal serum calcium levels and is a common risk factor for formation of kidney stones and/or nephrocalcinosis. These patients benefit from a normal-calcium, reduced-animal protein, and low-salt diet, along with a thiazide diuretic. Read More

    [Calciuria as a metabolic marker for various conditions and diseases].
    Urologiia 2017 Oct(5):132-138
    Federal state budgetary institution Endocrinology research centre, Ministry of Health of the Russian Federation Moscow, Russia.
    The article analyzes the literature on the features of human calcium homeostasis. The authors describe the etiopathogenetic role of calcitropic hormones, the plasma and urine acid-base status, various ions, lifestyle and nutrition and other factors contributing to hypercalciuria due to increased intestinal absorption, bone resorption, impairment of tubular calcium reabsorption, etc. They discuss the role of calciuria as a factor in forming urinary calculi and present their own observations. Read More

    Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.
    Kidney Int 2017 Nov 10. Epub 2017 Nov 10.
    Institute of Physiology, Christian-Albrechts-Universität zu Kiel, Kiel, Germany. Electronic address:
    The tight junction proteins claudin-10 and -16 are crucial for the paracellular reabsorption of cations along the thick ascending limb of Henle's loop in the kidney. In patients, mutations in CLDN16 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, while mutations in CLDN10 impair kidney function. Mice lacking claudin-16 display magnesium and calcium wasting, whereas absence of claudin-10 results in hypermagnesemia and interstitial nephrocalcinosis. Read More

    Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.
    Br J Pharmacol 2017 Nov 11. Epub 2017 Nov 11.
    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
    THE CALCIUM-SENSING RECEPTOR (CAS RECEPTOR) PLAYS A PIVOTAL ROLE IN EXTRACELLULAR CALCIUM HOMEOSTASIS AND GERMLINE LOSS- AND GAIN-OF-FUNCTION MUTATIONS CAUSE FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA (FHH) AND AUTOSOMAL DOMINANT HYPOCALCAEMIA (ADH), RESPECTIVELY. CAS RECEPTOR SIGNAL TRANSDUCTION IN THE PARATHYROID GLANDS IS LIKELY REGULATED BY G-PROTEIN SUBUNIT Α11 (GΑ11) AND ADAPTOR-RELATED PROTEIN COMPLEX-2 SIGMA SUBUNIT (AP2Σ), AND RECENT STUDIES HAVE IDENTIFIED GERMLINE MUTATIONS OF THESE PROTEINS AS A CAUSE OF FHH AND/OR ADH. CALCIMIMETICS AND CALCILYTICS ARE POSITIVE AND NEGATIVE ALLOSTERIC MODULATORS OF THE CAS RECEPTOR THAT HAVE POTENTIAL EFFICACY FOR SYMPTOMATIC FORMS OF FHH AND ADH. Read More

    Sporadic Primary Hyperparathyroidism and Stone Disease: a Comprehensive Metabolic Evaluation Before and After Parathyroidectomy.
    BJU Int 2017 Nov 10. Epub 2017 Nov 10.
    Section of Endourology Division of Urology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil.
    Objectives: to characterize the stone risk and the impact of parathyroidectomy on the metabolic profile of patients with primary hyperparathyroidism (PHPT) and urolithiasis.

    Subjects And Methods: We analyzed the prospectively collected charts of patients treated at our stone clinic from Jan/2001-Jan/2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands were assessed. Read More

    Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
    CEN Case Rep 2017 Nov 8. Epub 2017 Nov 8.
    Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
    Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age. Read More

    Moderate salt restriction with or without paricalcitol in type 2 diabetes and losartan-resistant macroalbuminuria (PROCEED): a randomised, double-blind, placebo-controlled, crossover trial.
    Lancet Diabetes Endocrinol 2017 Nov 2. Epub 2017 Nov 2.
    Istituto di Ricovero e Cura a Carattere Scientifico-Istituto di Ricerche Farmacologiche Mario Negri, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, Bergamo, Italy; Department of Medicine, Unit of Nephrology and Dialysis, Azienda Socio-Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy.
    Background: Macroalbuminuria predicts renal and cardiovascular events in patients with type 2 diabetes. We aimed to assess the albuminuria-lowering effects of salt restriction, paricalcitol therapy, or both, in this population.

    Methods: In this randomised, double-blind, placebo-controlled, crossover trial, we recruited adult patients with type 2 diabetes from six diabetology outpatient clinics in northern Italy, with 24 h albuminuria of more than 300 mg despite 100 mg per day losartan therapy, blood pressure of less than 140/90 mm Hg, serum creatinine concentration of less than 2 mg/dL, stable renal function on stable renin-angiotensin system inhibitor therapy with a fixed dose of losartan, parathyroid hormone concentration of 20 pg/mL to <110 pg/mL, serum calcium concentration of less than 9·5 mg/dL, and serum phosphate concentration of less than 5 mg/dL, who had been more than 80% compliant with placebo treatment during a 1 month placebo run-in. Read More

    Determinants of calcium and oxalate excretion in subjects with calcium nephrolithiasis: the role of metabolic syndrome traits.
    J Nephrol 2017 Oct 31. Epub 2017 Oct 31.
    Department of Medicine and Surgery, University of Parma, Via Antonio Gramsci 14, 43126, Parma, Italy.
    Background: The association of metabolic syndrome (MetS) traits with urinary calcium (UCE) or oxalate excretion (UOE) is uncertain in calcium stone formers (CSFs). Our aim was to investigate this association in a large group of Caucasian CSFs.

    Methods: We retrospectively reviewed data of CSFs evaluated at our Kidney Stone Clinic from 1984 to 2015. Read More

    Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis.
    Urolithiasis 2017 Oct 30. Epub 2017 Oct 30.
    Department of Public Health, Celal Bayar University, Manisa, Turkey.
    The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged < 1 year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged < 1 year were enrolled in this study. Read More

    The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.
    BMC Res Notes 2017 Oct 30;10(1):539. Epub 2017 Oct 30.
    Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.
    Background: Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This is the first report of a CLCN5 pathogenic variant in a Dent disease-1 family of Sri Lankan origin, and it highlights the value of genetic evaluation in children with refractory proteinuria. Read More

    Unusual Complication of Multidrug Resistant Tuberculosis.
    Case Rep Nephrol 2017 18;2017:6835813. Epub 2017 Sep 18.
    Division of Medicine, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai 400 012, India.
    Introduction: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany.

    Case Report: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Read More

    [Update on recent progress in vitamin D research. Vitamin D treatment for hypoparathyroidism.]
    Clin Calcium 2017 ;27(11):1623-1628
    Chiba Children's Hospital, Japan.
    The patients with hypoparathyroidism have been treated with active vitamin D(ie, alfacalcidol and calcitriol). Parathyroid hormone(PTH)increases extracellular calcium concentration partly through the activation of vitamin D, and active vitamin D corrects hypocalcemia mainly by increasing intestinal calcium abosorption. PTH coordinately increases blood calcium level with vitamin D in bone and kidney, however, renal tubular reabsorption of calcium is regulated by PTH-dependent mechanism. Read More

    Hypercalcemia in children: three cases report with unusual clinical presentations.
    J Bras Nefrol 2017 Apr-Jun;39(2):213-216
    Universidade Estadual de Campinas.
    Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Read More

    Personalized Intervention in Monogenic Stone Formers.
    J Urol 2017 Oct 20. Epub 2017 Oct 20.
    Department of Urology, SUNY Downstate Medical Center, Brooklyn, New York; Urology Service, NY Harbor VA Medical Center, New York, New York.
    Purpose: Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. Although nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment since most stone disease is regarded as polygenic, ie not attributable to a single gene. Recent evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than previously thought. Read More

    Parathyroid hormone related protein induced hypercalcemia of pregnancy successfully reversed by a dopamine agonist.
    J Clin Endocrinol Metab 2017 Oct 18. Epub 2017 Oct 18.
    Center for Bone Quality: Department of Internal Medicine: division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands.
    Context: Parathyroid hormone related protein (PTH-rP) induced hypercalcemia or pseudophyperparathyroidism during pregnancy is a condition that can result in serious foetal and maternal complications. Among others, breast tissue might be the cause of this PTH-rP production, in which case medical treatment is possible, as we describe in this case.

    Setting: A 32-year old woman presented in the15th week of pregnancy with massive enlargement of breasts and abdominal pain due to severe hypercalcemia, hypercalciuria and suppressed PTH. Read More

    Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014.
    Electron Physician 2017 Sep 25;9(9):5261-5264. Epub 2017 Sep 25.
    M.D., General Physician, Infectious and Tropical Diseases Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
    Background: Idiopathic hypercalciuria is a group of diseases which can be manifested with urinary symptoms. Its importance is due to high prevalence, recurrent infections, and stone formations which are often asymptomatic.

    Objective: The objective of this study was to determine the prevalence of idiopathic hypercalciuria in children with urinary system related symptoms in Bandar Abbas in 2014. Read More

    [A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient].
    Zhonghua Nei Ke Za Zhi 2017 Oct;56(10):760-762
    Department of Endocrinology, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). Read More

    Tumor-induced osteomalacia.
    Bone Rep 2017 Dec 20;7:90-97. Epub 2017 Sep 20.
    Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
    Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body. Read More

    Urinary calcium excretion and bone turnover in osteoporotic patients
.
    Clin Nephrol 2017 Nov;88(11):239-247
    Introduction: It is well documented that patients with osteoporosis (OP) have high incidence of hypercalciuria (HC). However, the mechanism of HC in patients with OP is not well established. It is thought to be the result of high bone turnover (HBT) with excessive bone resorption. Read More

    Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series.
    Endocr Connect 2017 Nov;6(8):589-594
    Royal Manchester Children's HospitalManchester, UK
    Background: Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism.

    Methods: We describe three children with hypoparathyroidism in whom intercurrent illnesses led to hypocalcaemia and escalation of treatment with alfacalcidol (1-hydroxycholecalciferol) and calcium supplements. Read More

    Late-onset Bartter syndrome type II.
    Clin Kidney J 2017 Oct 8;10(5):594-599. Epub 2017 May 8.
    Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association of National Research Centers, Berlin, Germany.
    Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c. Read More

    [Lithogenic risk index in urinary lithiasis patients and their evolution after treatment.]
    Arch Esp Urol 2017 Oct;70(8):725-731
    Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Asunción. Paraguay.
    Objective: To determine the lithogenic risk index and its evolution after treatment of paraguayan lithiasic patients.

    Methods: This experimental study of temporal series included 28 lithiasic patients of both sexes that attended to the Instituto de Prevision Social in 2012. Basal evaluation included metabolic study and urinary saturation indexes determined by EQUIL software. Read More

    Preventive Kidney Stones: Continue Medical Education.
    Int J Prev Med 2017 6;8:67. Epub 2017 Sep 6.
    Department of Pediatric Nephrology, Children's Hospital Medical Center, Tehran University of Medical Science, Tehran, Iran.
    Nephrolithiasis is a common health problem across the globe with a prevalence of 15%-20%. Idiopathic hypercalciuria is the most common cause of nephrolithiasis, and calcium oxalate stones are the most common type of stones in idiopathic hypercalciuric patients. Calcium phosphate stones are frequently associated with other diseases such as renal tubular acidosis type 1, urinary tract infections, and hyperparathyroidism. Read More

    [Mineralogical composition of urinary stones, risk factors and metabolic disturbances in patients with calcium-oxalate urolithiasis].
    Urologiia 2017 Sep(4):22-26
    United Physico-Chemical Center of Solutions, G.A. Krestov Institute of Solution Chemistry of Russian Academy of Sciences and Ivanovo State University of Chemical Technology, Ivanovo, Russia.
    Aim: To identify the most likely metabolic disturbances and risk factors for stone formation in a group of patients with calcium oxalate urolithiasis, and to establish the relationship between the mineralogical composition of calculi and impaired excretion of inhibitors and promoters of stone formation.

    Materials And Methods: Fifty patients with calcium oxalate urolithiasis were tested using a complex of physicochemical methods. Patients assessment included evaluation of quantitative mineralogical composition of calculi, daily urine pH profile and daily urinary excretion of urates, calcium, magnesium, oxalate, phosphate and citrate ions. Read More

    Association of Amelogenesis Imperfecta and Bartter's Syndrome.
    Indian J Nephrol 2017 Sep-Oct;27(5):399-401
    Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India.
    Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. Read More

    [Renal abnormalities in Down syndrome: A review].
    Arch Pediatr 2017 Oct;24(10):1013-1018
    Centre de référence des maladies rénales rares néphrogones, hôpital Femme-Mère-Enfant de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard-Lyon 1, 8, avenue Rockefeller, 69008 Lyon, France.
    Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Read More

    Urolithiasis is prevalent and associated with reduced bone mineral density in β-thalassaemia major.
    Intern Med J 2017 Sep;47(9):1064-1067
    Department of Medicine, Monash University, Melbourne, Victoria, Australia.
    Asymptomatic urolithiasis is common and of mixed composition in patients with β-thalassaemia major. Twenty-seven subjects were imaged using dual-energy computer tomography to determine the presence and composition of urolithiasis. The prevalence of urolithiasis was 59% and affected patients generally had multiple stones, often with more than one component: struvite (33%), calcium oxalate (31%) and cystine (22%). Read More

    The intestinal phosphate transporter NaPi-IIb (Slc34a2) is required to protect bone during dietary phosphate restriction.
    Sci Rep 2017 Sep 8;7(1):11018. Epub 2017 Sep 8.
    Institute of Physiology, University of Zurich, Zurich, Switzerland.
    NaPi-IIb/Slc34a2 is a Na(+)-dependent phosphate transporter that accounts for the majority of active phosphate transport into intestinal epithelial cells. Its abundance is regulated by dietary phosphate, being high during dietary phosphate restriction. Intestinal ablation of NaPi-IIb in mice leads to increased fecal excretion of phosphate, which is compensated by enhanced renal reabsorption. Read More

    Primary hyperparathyroidism.
    Nat Rev Endocrinol 2017 Sep 8. Epub 2017 Sep 8.
    Division of Endocrinology, Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
    In this Review, we describe the pathogenesis, diagnosis and management of primary hyperparathyroidism (PHPT), with a focus on recent advances in the field. PHPT is a common endocrine disorder that is characterized by hypercalcaemia and elevated or inappropriately normal serum levels of parathyroid hormone. Most often, the presentation of PHPT is asymptomatic in regions of the world where serum levels of calcium are routinely measured. Read More

    Evidence of disordered calcium metabolism in adolescent girls with type 1 diabetes: An observational study using a dual-stable calcium isotope technique.
    Bone 2017 Dec 4;105:184-190. Epub 2017 Sep 4.
    Department of Pediatrics, Golisano Children's Hospital, The University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 690, Rochester, NY 14642, USA. Electronic address:
    Type 1 diabetes (T1D) is associated with skeletal abnormalities including low bone density and increased fracture risk. The pathophysiology underlying T1D related skeletal fragility remains unknown. The objective of this study was to use a dual-stable calcium isotope method to investigate the effects of T1D on calcium absorption and estimated calcium retention in adolescent females. Read More

    A multiregional Italian cohort of 24-hour urine metabolic evaluation in renal stone formers.
    Minerva Urol Nefrol 2017 Sep 7. Epub 2017 Sep 7.
    Department of Urology, University of Rome Tor Vergata, Rome, Italy.
    Background: Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with Lithotest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones. Read More

    Hypercalcemia: a consultant's approach.
    Pediatr Nephrol 2017 Sep 6. Epub 2017 Sep 6.
    Bone and Mineral Disorders Clinic, Division of Pediatric Nephrology, Children's Mercy Hospital, University of Missouri at Kansas City School of Medicine, 2401 Gillham Road, Kansas City, MO, 64108, USA.
    Due to their daily involvement in mineral metabolism, nephrologists are often asked to consult on children with hypercalcemia. This might become even more pertinent when the hypercalcemia is associated with acute kidney injury and/or hypercalciuria and renal calcifications. The best way to assess the severity of hypercalcemia is by measurement of plasma ionized calcium, and if not available by adjusting serum total calcium to albumin concentration. Read More

    Renal Hemosiderosis among Iranian Transfusion Dependent β-Thalassemia Major Patients.
    Int J Hematol Oncol Stem Cell Res 2017 Apr;11(2):133-138
    Basir Eye Health Center, Basir Health Clinic, Tehran, Iran.
    Background: In recent years, the success in management of thalassemic patients, has allowed for some previously unrecognized complications including renal abnormalities to emerge. This prospective study aimed to investigate kidney iron overload by means of MRI T2* and also renal function based on laboratory tests for early markers of glomerular and tubular dysfunction among adult Iranian transfusion-dependent thalassemia major patients. Subjects and Methods: Two-hundred and two patients with transfusion-dependent β-thalassemia major were included in this study in Zafar Adult Thalassemia Center, Tehran, Iran. Read More

    Stone growth patterns and risk for surgery among children presenting with hypercalciuria, hypocitraturia and cystinuria as underlying metabolic causes of urolithiasis.
    J Pediatr Urol 2017 Aug 4;13(4):357.e1-357.e7. Epub 2017 Aug 4.
    Division of Urology, The Hospital for Sick Children, Toronto, ON, Canada.
    Introduction: Hypercalciuria, hypocitraturia and cystinuria are the most common underlying metabolic stone abnormalities in children. The present study compared stone growth patterns, stone burden, and the risk of stone-related surgery among these underlying metabolic conditions.

    Methods: A retrospective cohort of 356 children with renal stones, followed from 2000 to 2015, was studied. Read More

    Topiramate and metabolic acidosis: an evolving story.
    Hosp Pract (1995) 2017 Sep 1:1-4. Epub 2017 Sep 1.
    a Harvard Medical School , Massachusetts General Hospital , Boston , MA , USA.
    Topiramate is an anticonvulsant that is being increasingly used for a number of different off-label indications. Its inhibition of carbonic anhydrase isoenzymes can lead to metabolic acidosis, elevated urine pH, reduced urine citrate, and hypercalciuria, thereby creating a milieu that is ripe for calcium phosphate stone formation. In this review, we describe a case of topiramate-induced metabolic acidosis. Read More

    [Neonatal intoxication to vitamin D in premature babies: A series of 16 cases].
    Arch Pediatr 2017 Sep 14;24(9):817-824. Epub 2017 Aug 14.
    Centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron, France; Université Claude-Bernard-Lyon 1, 69008 Lyon, France.
    Introduction: Preterm neonates are particularly at risk of vitamin D (25-D) deficiency. To prevent rickets and osteopenia in this population, international guidelines vary between 800 and 1000IU per day of vitamin D in Europe and recommend 400IU per day in the USA. Target levels of circulating 25-D are not well identified, with the lower target level 50-75nmol/L and the upper target level probably 120nmol/L. Read More

    Dent disease in Poland: what we have learned so far?
    Int Urol Nephrol 2017 Nov 16;49(11):2005-2017. Epub 2017 Aug 16.
    Department and Clinics of Pediatrics, SMDZ, Medical University of Silesia in Katowice, Zabrze, Poland.
    Purpose: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland.

    Methods: A retrospective analysis of a national cohort with genetically confirmed diagnosis. Read More

    Syndrome of inappropriate anti-diuresis induces volume-dependent hypercalciuria.
    Osteoporos Int 2017 Nov 15;28(11):3161-3168. Epub 2017 Aug 15.
    CHU de Rangueil, Service des Explorations Fonctionnelles Physiologiques, 1, Avenue du Professeur Jean Poulhès-TSA 50032, 310599, Toulouse Cedex, France.
    Hyponatremia is associated with bone demineralization. We hypothesized that, during hyponatremia, calciuria and calcium balance depend on volemic status. We evaluated calciuria in patients with hyponatremia, secondary to SIAD or hypovolemia. Read More

    The variation in urinary calcium levels in adult patients with fracture and surgical intervention.
    J Orthop Surg Res 2017 Aug 15;12(1):123. Epub 2017 Aug 15.
    Department of Orthopedics, Nanjing Drum Tower Hospital, the affiliated hospital of Nanjing University Medical School, 321 Zhongshan Road, Gulou District, Nanjing, Jiangsu Province, 210008, China.
    Background: Generally, a higher calcium diet is fed to fracture patients after surgery. However, recent studies have indicated that higher dietary calcium intakes increase the risk of urinary stones for fracture patients. Therefore, this study aimed to observe the variation in urinary calcium levels among fracture patients who underwent surgery, based on fracture type, fracture location, age and gender. Read More

    Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System.
    Ann Surg 2017 Aug 11. Epub 2017 Aug 11.
    *Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, CA †Department of Biostatistics, UCLA Fielding School of Public Health, Los Angeles, CA ‡Division of Endocrinology, Diabetes, and Metabolism, UCLA David Geffen School of Medicine, Los Angeles, CA §Division of Endocrinology, Diabetes, and Metabolism, VA Greater Los Angeles Healthcare System, Los Angeles, CA.
    Objective: To determine the extent to which consensus guidelines for surgery in patients with primary hyperparathyroidism (PHPT) are followed within an academic health system.

    Background: Previous studies have shown that adherence to consensus guidelines in community practice is low.

    Methods: Adults with biochemically confirmed PHPT who received primary care within an academic health system were identified from 2005 to 2015. Read More

    Ketogenic diets in the treatment of epilepsy.
    Curr Pharm Des 2017 Aug 9. Epub 2017 Aug 9.
    Hannover Medical School, Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover. Germany.
    Background: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). Read More

    Primary aldosteronism as a cause of secondary osteoporosis.
    Eur J Endocrinol 2017 Nov 8;177(5):431-437. Epub 2017 Aug 8.
    Endocrinology Unit
    Objective: Patients with primary aldosteronism (PA) have a high prevalence of osteoporosis (OP) and fractures (Fx). We evaluated the presence of PA in patients admitted to our metabolic bone disease outpatient clinic.

    Design: Study conducted on an in- and outpatient basis in a referral Italian endocrinology unit. Read More

    A curious case of growth failure and hypercalcemia: Answers.
    Pediatr Nephrol 2017 Aug 7. Epub 2017 Aug 7.
    Division of Nephrology, University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
    Background: Sarcoidosis is a multisystem granulomatous disease of unknown etiology that rarely presents in childhood. Here, we report a case of pediatric sarcoidosis, presenting with renal failure and hypercalcemia.

    Case Diagnosis/treatment: A previously well 14-year-old Caucasian boy was admitted to the Hospital for Sick Children, Canada, for hypertension and renal failure following work-up by his family physician for initial concerns of growth failure. Read More

    A curious case of growth failure and hypercalcemia: Questions.
    Pediatr Nephrol 2017 Aug 7. Epub 2017 Aug 7.
    Division of Nephrology, University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
    Background: Sarcoidosis is a multisystem granulomatous disease of unknown etiology that rarely presents in childhood. Here, we report a case of pediatric sarcoidosis presenting with renal failure and hypercalcemia.

    Case Diagnosis/treatment: A previously well 14-year-old Caucasian boy was admitted to the Hospital for Sick Children, Canada, for hypertension and renal failure following work-up by his family physician for initial concerns of growth failure. Read More

    SaRNA-mediated activation of TRPV5 reduces renal calcium oxalate deposition in rat via decreasing urinary calcium excretion.
    Urolithiasis 2017 Aug 3. Epub 2017 Aug 3.
    Department of Urology, Minimally Invasive Surgery Center, The First Affiliated Hospital of Guangzhou Medical University, Kangda Road 1#, Haizhu District, Guangzhou, 510230, Guangdong, China.
    Hypercalciuria is a main risk factor for kidney stone  formation. TRPV5 is the gatekeeper protein for mediating calcium transport and reabsorption in the kidney. In the present study, we tested the effect of TRPV5 activation with small activating RNA (saRNA), which could induce gene expression by targeting the promoter of the gene, on ethylene glycol (EG)-induced calcium oxalate (CaOx) crystals formation in rat kidney. Read More

    Can adverse effects of excessive vitamin D supplementation occur without developing hypervitaminosis D?
    J Steroid Biochem Mol Biol 2017 Jul 19. Epub 2017 Jul 19.
    Department of Applied Oral Sciences, Forsyth Institute, Cambridge, MA, USA; Department of Preventive & Community Dentistry, School of Dentistry, University of Rwanda College of Medicine & Health Sciences, Kigali, Rwanda; Department of Oral Health Policy & Epidemiology, Harvard School of Dental Medicine, Boston, MA, USA; Department of Pathology, Lake Erie College of Osteopathic Medicine, Erie, PA, USA. Electronic address:
    Vitamin D is a fat-soluble hormone that has endocrine, paracrine and autocrine functions. Consumption of vitamin D-supplemented food & drugs have increased significantly in the last couple of decades due to campaign and awareness programs. Despite such wide use of artificial vitamin D supplements, serum level of 25 hydroxyvitamin D does not always reflect the amount of uptake. Read More

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