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    1 OF 78

    Role of FGF23 in Pediatric Hypercalciuria.
    Biomed Res Int 2017 31;2017:3781525. Epub 2017 Dec 31.
    Bone and Mineral Disorders Clinic, Section of Pediatric Nephrology, Children's Mercy Hospital and Clinics, University of Missouri at Kansas City, Kansas City, MO, USA.
    Background: This study explored the possible role of FGF23 in pediatric hypercalciuria.

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

    A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole.
    Case Rep Nephrol Dial 2017 Sep-Dec;7(3):167-171. Epub 2017 Dec 18.
    Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA.
    CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. Read More

    MILK-ALKALI SYNDROME (MAS) as a complication of the treatment of hypoparathyroidism.
    Endokrynol Pol 2018 Feb 14. Epub 2018 Feb 14.
    Warsaw University of Medicine.
    Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on the duration of hypoparathyroidism treatment, although it is closely related to the applied therapy, especially the dose of calcium carbonate and active vitamin D preparations. Read More

    Study of Urine Composition of Patients With Recurrent Nephrolithiasis in Lorestan, Iran.
    Iran J Kidney Dis 2018 Jan;12(1):22-26
    Department of Nephrology, Lorestan University of Medical Sciences, Khorramabad, Iran.
    Introduction: Nephrolithiasis is one of the most common urinary tract diseases. After the first episode of urinary calculus, the risk of recurrence is nearly 40% to 50% at 5 years. Nephrolithiasis is a systemic disease that is associated with some metabolic disorders. Read More

    Metabolic evaluation of children with urolithiasis.
    Urol Ann 2018 Jan-Mar;10(1):94-99
    Department of Urology and Renal Transplantation, Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India.
    Aim: The aim of the study is to identify the prevalence of metabolic abnormalities in children with urolithiasis.

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

    Urinary Stone Disease: Diagnosis, Medical Therapy, and Surgical Management.
    Med Clin North Am 2018 Mar 9;102(2):265-277. Epub 2017 Dec 9.
    Department of Urology, The James Buchanan Brady Urological Institute, Johns Hopkins Hospital, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Marburg 134, Baltimore, MD 21287, USA.
    Clinical suspicion of urolithiasis should be evaluated with low-dose computed tomography as the first-line imaging modality for nonpregnant, adult patients. A period of observation may be appropriate for ureteral stones less than 10 mm, and medical expulsive therapy may be beneficial for facilitating passage of distal ureteral stones. Regardless of stone type, patients should adhere to a low-sodium diet and attempt to achieve a urine volume of more than 2. Read More

    Renal impairment in hypophosphatasia.
    Arch Pediatr 2017 May;24(5S2):5S93-5S95
    Service de néphrologie rhumatologie dermatologie pédiatriques, centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron Cedex; faculté de médecine Lyon-Est, université de Lyon, INSERM U 1033, LYOS, prévention des maladies osseuses, 69008 Lyon, France. Electronic address:
    Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/hypercalciuria or exposure to toxic agents. The objectives of this review are to describe the different renal lesions observed in HPP, and the therapeutic measures that can be applied (in particular, thiazide diuretics). Read More

    Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.
    Gene 2018 Apr 31;649:23-26. Epub 2018 Jan 31.
    Dr. v. Hauner Children's Hospital, Pediatric Nephrology, Ludwig-Maximilians University, Munich, Germany.
    Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Read More

    [Idiopathic hypercalciuria. Diagnosis and treatment].
    Urologiia 2017 Dec(6):112-119
    I.M. Sechenov First MSMU, Moscow, Russia.
    Most patients with idiopathic hypercalciuria and calcium nephrolithiasis have a family history of the disease. Idiopathic hypercalciuria is a metabolic abnormality with various causes and developmental pathways. The systematic review describes specific mutations associated with idiopathic hypercalciuria and nephrolithiasis. Read More

    Hyperuricosuric calcium urolithiasis.
    J Nephrol 2018 Jan 24. Epub 2018 Jan 24.
    Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-8885, USA.
    Hyperuricosuric calcium urolithiasis is a condition of mixed calcium oxalate stones characterized by hyperuricosuria either in isolation or in conjunction with other risk factors for calcium oxalate stones such as hypercalciuria, hyperoxaluria, and hypocitraturia. There are three proposed physicochemical models of pathogenesis where urate in its crystalline phase via heterogeneous nucleation, in its colloidal phase via removal of crystallization inhibitors, and in solution via precipitation crystallization, can all increase propensity to calcium oxalate precipitation. Regardless of the model, the phenomenologic observation of urate increasing calcium oxalate precipitation appears solid. Read More

    [Calcium response to vitamin D supplementation].
    Medicina (B Aires) 2018 ;78(1):6-10
    Instituto de Investigaciones Metabólicas, Universidad del Salvador, Buenos Aires, Argentina.
    Several studies show the importance of serum vitamin D sufficient levels to prevent multiple chronic diseases. However, vitamin D supplementation and its effects on urine calcium excretion remain controversial. The objective of this prospective and interventional study was to evaluate urine calcium excretion in women with normal calciuria or hypercalciuria, once serum vitamin D sufficiency was achieved. Read More

    Deficiency of Carbonic Anhydrase II Results in a Urinary Concentrating Defect.
    Front Physiol 2017 5;8:1108. Epub 2018 Jan 5.
    Department of Physiology, University of Alberta, Edmonton, AB, Canada.
    Carbonic anhydrase II (CAII) is expressed along the nephron where it interacts with a number of transport proteins augmenting their activity. Aquaporin-1 (AQP1) interacts with CAII to increase water flux through the water channel. Both CAII and aquaporin-1 are expressed in the thin descending limb (TDL); however, the physiological role of a CAII-AQP1 interaction in this nephron segment is not known. Read More

    Assessment of Cross-correlations Between Selected Macromolecules in Urine of Children with Idiopathic Hypercalciuria.
    Urol J 2018 Jan 21. Epub 2018 Jan 21.
    Military Institute of Hygiene and Epidemiology, Department of Regenerative Medicine and Cell Biology, Warsaw, Poland.
    Purpose: The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria.

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

    Current opinions on nephrolithiasis associated with primary hyperparathyroidism.
    Urolithiasis 2018 Jan 19. Epub 2018 Jan 19.
    Department of Urology, Jiangsu Province Hospital of TCM, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China.
    Nephrolithiasis is a common urological disease and could be secondary to primary hyperparathyroidism (PHPT). PHPT is traditionally characterised with hypercalcaemia. Recently, a normocalcemic PHPT has been officially recognised at the International Workshops. Read More

    New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.
    Kidney Dis (Basel) 2017 Dec 24;3(3):98-105. Epub 2017 Aug 24.
    Department of Cardiothoracic and Respiratory Science, University of Campania "Luigi Vanvitelli," Naples, Italy.
    Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either, encoding the AE1 anion exchanger, orand, encoding for the B1 and a4 subunits of the vHATPase, respectively. Read More

    Idiopathic hypercalciuria: Can we prevent stones and protect bones?
    Cleve Clin J Med 2018 Jan;85(1):47-54
    Clinical Associate Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, The Ohio State University, Columbus, OH, USA.
    Idiopathic hypercalciuria increases the risk of urinary stones and osteoporosis. The aim of this review is to delineate our current understanding of idiopathic hypercalciuria in the context of bone health, specifically its definition, causes, epidemiology, laboratory evaluation, and potential treatments. Read More

    Urinary Calcium Excretion and Risk of Chronic Kidney Disease in the General Population.
    Kidney Int Rep 2017 May 31;2(3):366-379. Epub 2016 Dec 31.
    Department of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
    Introduction: High urinary calcium excretion (UCaE) has been shown to lead to accelerated renal function decline in individuals with renal tubular diseases. It is not known whether this association also exists in the general population. Therefore, we investigated whether high UCaE is associated with risk of developing chronic kidney disease (CKD) in community-dwelling subjects. Read More

    Quantitative Mineralogical Composition of Calculi and Urine Abnormalities for Calcium Oxalate Stone Formers: A Single-Center Results.
    Urol J 2017 Dec 26. Epub 2017 Dec 26.
    Ivanovo State Medical Academy, 153012 Ivanovo, Russian Federation.
    Purpose: The paper focuses on the relationship of risk factors and metabolic disorders with mineralogical composition of calculi, age and gender of calcium oxalate stone formers.

    Materials And Methods: Stone mineralogical composition, 24 hour biochemistry and pH-profile of urine were examined for sixty four stone formers using powder X-ray diffraction, spectrophotometric and potentiometric techniques.

    Results: The analysis indicated that 44 % of calculi were composed of pure calcium oxalate monohydrate, whereas other 56 % contained both monohydrate and dihydrate or usually their mixtures with hydroxyl apatite. Read More

    Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Pediatr Nephrol 2017 Dec 23. Epub 2017 Dec 23.
    Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
    Renal phosphate handling critically determines plasma phosphate and whole body phosphate levels. Filtered phosphate is mostly reabsorbed by Na-dependent phosphate transporters located in the brush border membrane of the proximal tubule: NaPi-IIa (SLC34A1), NaPi-IIc (SLC34A3), and Pit-2 (SLC20A2). Here we review new evidence for the role and relevance of these transporters in inherited disorders of renal phosphate handling. Read More

    Metabolic investigation in patients with nephrolithiasis.
    Einstein (Sao Paulo) 2017 Oct-Dec;15(4):452-456. Epub 2017 Dec 18.
    Centro Universitário Faculdade Assis Gurgacz, Cascavel, PR, Brazil.
    Objective: To evaluate the prevalence of metabolic disorders associated with nephrolithiasis in a female population.

    Methods: A retrospective study on 1,737 patients with evidence of recent formation of renal stones, being 54% females. The laboratory investigation consisted of at least two samples of blood and 24-hour urine to assess calcium, uric acid, citrate and creatinine levels, qualitative cystinuria, urinary pH following fasting and 12-hour water restriction, urine culture, serum creatinine and parathyroid hormone. Read More

    Effects of alendronate and alfacalcidol on bone in patients with myasthenia gravis initiating glucocorticoids treatment.
    Clin Endocrinol (Oxf) 2018 Mar 12;88(3):380-387. Epub 2018 Jan 12.
    Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
    Objective: Glucocorticoids (GCs) are the first-line treatment for myasthenia gravis (MG) and act as long-term immunosuppressants. However, GCs can induce osteoporosis and bone fractures. In this study, we evaluate the effects of oral alendronate and alfacalcidol, or alfacalcidol alone on the bone of Chinese patients with MG who will initiate treatment with GCs. Read More

    Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis.
    J Endocr Soc 2017 Sep 1;1(9):1160-1167. Epub 2017 Aug 1.
    Department of Pediatrics, Division of Endocrinology, Riley Hospital for Children, Indianapolis, Indiana 46202.
    Context: Hypercalcemia is reported as a rare finding in adrenal insufficiency, but is not well described in congenital adrenal hyperplasia (CAH).

    Methods: A retrospective chart review was conducted of patients with CAH diagnosed before the age of 2 years who had at least one recorded serum calcium measurement. Data from birth to 6 years of age were reviewed. Read More

    The genetic framework for development of nephrolithiasis.
    Asian J Urol 2017 Jan 28;4(1):18-26. Epub 2016 Nov 28.
    Smith Institute for Urology, Hofstra Northwell School of Medicine, Lake Success, NY, USA.
    Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of at-risk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. Read More

    Icariin ameliorates dexamethasone‑induced bone deterioration in an experimental mouse model via activation of microRNA‑186 inhibition of cathepsin K.
    Mol Med Rep 2018 Jan 15;17(1):1633-1641. Epub 2017 Nov 15.
    Department of Orthopaedics, The Second Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, Henan 450002, P.R. China.
    The present study aimed to investigate bone deterioration in glucocorticoid‑induced osteoporosis (GIOP) mice, and the anti‑osteoporosis effect and underlying molecular mechanism of icariin. Dexamethasone (DSM) treatment was demonstrated to facilitate the induction of hypercalciuria in GIOP mice. Icariin treatment reversed the dexamethasone (DXM)‑induced disequilibrium of calcium homeostasis and bone resorption, and increased serum alkaline phosphatase, tartrate resistant acid phosphatase, osteocalcin and deoxypyridinoline. Read More

    Effect of postparturient oral calcium administration on serum total calcium concentration in Holstein cows fed diets of different dietary cation-anion difference in late gestation.
    Res Vet Sci 2017 Nov 24;117:118-124. Epub 2017 Nov 24.
    College of Veterinary Medicine, University of Illinois, Urbana, USA.
    Minimizing the severity of post parturient hypocalcemia and the incidence of subclinical hypocalcaemia in multiparous dairy cows are important goals of the transition period. The primary objective of this study was to determine whether feeding an acidogenic ration in late gestation combined with oral CaCladministration after parturition improved calcium homeostasis when compared to feeding an acidogenic ration prepartum or oral CaCladministration postpartum alone. Forty-two Holstein dairy cows were randomly assigned to one of three groups of 14 cows. Read More

    Mitochondrial Disease in Children: The Nephrologist's Perspective.
    JIMD Rep 2017 Dec 17. Epub 2017 Dec 17.
    Department of Paediatric Neurology, Children's University Hospital Niño Jesús, Madrid, Spain.
    Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group.

    Objective: To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. Read More

    Study protocol for a phase II dose evaluation randomized controlled trial of cholecalciferol in critically ill children with vitamin D deficiency (VITdAL-PICU study).
    Pilot Feasibility Stud 2017 8;3:70. Epub 2017 Dec 8.
    Research Institute, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1 Canada.
    Background: Clinical research has recently demonstrated that vitamin D deficiency (VDD) is highly prevalent in the pediatric intensive care unit (PICU) and associated with worse clinical course. Multiple adult ICU trials have suggested that optimization of vitamin D status through high-dose supplementation may reduce mortality and improve other clinically relevant outcomes; however, there have been no trials of rapid normalization in the PICU setting. The objective of this study is to evaluate the safety and efficacy of an enteral weight-based cholecalciferol loading dose regimen in critically ill children with VDD. Read More

    CaSR signaling down-regulates AQP2 expression via a novel microRNA pathway in pendrin and NaCl cotransporter knockout mice.
    FASEB J 2018 Jan 5:fj201700412RR. Epub 2018 Jan 5.
    Department of Biosciences, Biotechnologies, and Biopharmaceutics University of Bari, Bari, Italy.
    High concentrations of urinary calcium counteract vasopressin action via the activation of the calcium-sensing receptor (CaSR) that is expressed in the luminal membrane of collecting duct cells, which impairs the trafficking of aquaporin-2 (AQP2). Pendrin/NaCl cotransporter double-knockout (dKO) mice display significant calcium wasting and develop severe volume depletion, despite increased circulating vasopressin levels. We hypothesized that the CaSR-mediated impairment of AQP2 expression/trafficking underlies vasopressin resistance in dKO mice. Read More

    Changes in urinary risk profile after short-term low sodium and low calcium diet in recurrent Swiss kidney stone formers.
    BMC Nephrol 2017 Dec 4;18(1):349. Epub 2017 Dec 4.
    Division of Nephrology, University Hospital Zurich, Rämistr. 100, 8091, Zurich, Switzerland.
    Background: Kidney stone disease is common in industrialized countries. Recently, it has attracted growing attention, because of its significant association with adverse renal outcomes, including end stage renal disease. Calcium-containing kidney stones are frequent with high recurrence rates. Read More

    An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
    BMC Nephrol 2017 Dec 4;18(1):353. Epub 2017 Dec 4.
    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe, Hyogo, 6500017, Japan.
    Background: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences. Read More

    Efficacy of potassium polycitrate on renal stone and microlithiasis predisposed by metabolic disorders.
    Caspian J Intern Med 2017 ;8(4):296-300
    Social Determint Health Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, IR Iran.
    Background: According to high prevalence of renal stone in children, we evaluated the efficacy of treatment with potassium citrate and its correlation with metabolic disorders in children less than two years of age with renal stone and microlithiasis.

    Methods: In this cross- sectionaly study, 100 patients (less than 2 years old) with renal stone or microlitiasis were evaluated for metabolic disorders. They were treated with potassium citrate and followed-up by ultrasonography every 3 months. Read More

    Another Limping Child: An Interesting Diagnosis Journey.
    Iran J Child Neurol 2017 ;11(4):71-76
    Department of Pediatric Rheumatology, ShahidBeheshti University of Medical Sciences, Mofid Children's Hospital, Tehran, Iran.
    Limp is described as any deviation from a normal gait pattern for the child's age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp. Read More

    A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis.
    BMC Res Notes 2017 Nov 25;10(1):618. Epub 2017 Nov 25.
    Nutrition Unit, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
    Background: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Read More

    [Recombinant human parathyroid hormone in the therapy of hypoparathyroidism].
    Ter Arkh 2017;89(10):80-86
    Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
    Hypoparathyroidism is an endocrine disease that results from deficiency or complete absence of parathyroid hormone (PTH), a biologically active 84-amino acid polypeptide. Standard therapy for chronic hypoparathyroidism includes oral calcium salts and active vitamin D metabolites and is aimed at maintaining a balance between optimal near-normal serum calcium concentration and normocalcuria. Traditional treatment regimens not always lead to the compensation for calcium and phosphorus metabolism. 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 2018 Mar 10;93(3):580-588. 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-of-function 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 probably regulated by G-protein subunit α(Gα) and adaptor-related protein complex-2 σ-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 2018 Feb 28;121(2):281-288. Epub 2017 Nov 28.
    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.

    Patients And Methods: We analysed the prospectively collected charts of patients treated at our stone clinic between January 2001 and January 2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands was 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 2018 Jan 2;6(1):27-40. 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

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