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    Primary hyperparathyroidism: recent advances.
    Curr Opin Rheumatol 2018 Apr 13. Epub 2018 Apr 13.
    Division of Endocrinology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
    Purpose Of Review: The purpose of this review is to describe recent advances and changes in the evaluation and management of primary hyperparathyroidism (PHPT).

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

    Updates in the Metabolic Management of Calcium Stones.
    Curr Urol Rep 2018 Apr 16;19(6):41. Epub 2018 Apr 16.
    Department of Urology, University of Wisconsin School of Medicine and Public Health, 1685 Highland Avenue, 3258 Medical Foundation Centennial Building, Madison, WI, 53705-2281, USA.
    Purpose Of Review: Urinary risk factors, such as hypercalciuria, hypocitraturia, and hyperoxaluria, either in combination or alone, are associated with calcium stones. Dietary habits as well as underlying medical conditions can influence urinary risk factors. Evaluation of the conglomerate of patients' stone risks provides evidence for individualized medical management, an effective and patient-supported approach to prevention. Read More

    Calcium-creatinine ratio in a morning urine sample for the estimation of hypercalciuria associated with non-glomerular hematuria observed in children and adolescents.
    Bol Med Hosp Infant Mex 2018 ;75(1):41-48
    Departamento de Estudios de la Función Renal, Servicio de Laboratorio Clínico, Hospital Pediátrico Docente Juan Manuel Márquez, La Habana, Cuba.
    Background: Hypercalciuria might be revealed during the differential diagnosis of hematuria accompanying renal lithiasis (RL). In spite of this, diagnostic accuracy of calcium urinary excretion might be affected by incomplete 24-hour urine collections. In the present study, the diagnostic utility of calcium/creatinine (ICaCre) index for determining hypercalciuria associated with non-glomerular hematuria (NGH) and RL was assessed. Read More

    [Changes in the concentration of urolitiasis markers depending on stone-forming activity in patients with recurrent urolithiasis].
    Urologiia 2018 Mar(1):15-19
    Medical Research and Educational Center, Lomonosov MSU, Moscow, Russia.
    The study aimed to investigate the changes in the concentration of bikunin, osteopontin, and nephrocalcin, depending on the changes in the renal stone-forming activity in patients with recurrent urolithiasis.

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

    Current treatment of hypoparathyroidism: Theory versus reality waiting guidelines for children and adolescents.
    Acta Biomed 2018 Mar 27;89(1):122-131. Epub 2018 Mar 27.
    .
    The diagnosis of hypoparathyroidism(HPT)is readily made in the presence of hypocalcemia with markedly reduced or absent parathormone (PTH) levels. Currently available treatments for HPT include high dose vitamin D (ergocalciferol, D2 and cholecalciferol, D3) or, the active metabolite dihydroxy vitamin D (calcitriol), in addition to calcium supplements.This regimen, if not well monitored, can lead to hypercalciuria, as PTH deficiency impairs renal calcium reabsorption. Read More

    [Clinical features and genetic variants of Dent disease in 10 children].
    Zhonghua Er Ke Za Zhi 2018 Apr;56(4):289-293
    Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
    To summarize the clinical features and genetic analysis results of 10 children with Dent disease. The clinical data and gene test results of 10 boys aged from 8 months to 12 years with Dent disease diagnosed in Children's Hospital of Nanjing Medical University from January 2014 to July 2017 were analyzed retrospectively. All patients had insidious onset, 5 cases were found to have proteinuria on routine urine examination after hospitalization duo to other diseases, 4 cases were admitted to hospital because increased foams in the urine, and 1 case was found to have proteinuria on health checkup. Read More

    [Disturbances of calcium metabolism and vitamin D supplementation in sarcoidosis - two-way street].
    Pol Merkur Lekarski 2018 Mar;44(261):147-149
    1st Department of Lung Diseases, Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
    The role of vitamin D in the human body is not limited only to the regulation of calcium metabolism and secondary to the impact on bones. Recent studies have shown the influence of vitamin D level on muscles, on the risk of cancer, diabetes, hypertension and pulmonary diseases, including granulomatous diseases. Sarcoidosis is a granulomatous disease of unknown etiology. Read More

    Non-parathyroid hypercalcemia associated with paraffin oil injection in 12 younger male bodybuilders.
    Eur J Endocrinol 2018 Mar 29. Epub 2018 Mar 29.
    L Rejnmark, Depatment of endocrinology and internal medicine, Aarhus Universitetshospital, Aarhus, Denmark.
    Introduction: Injection of paraffin oil to augment muscles size is a troubling phenomenon known to cause a foreign-body reaction with formation of granulomas. In a few case-reports, long-term side effects have been reported in terms of hypercalcemia and renal failure.

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

    Urinary stone risk factors in the descendants of patients with kidney stone disease.
    Pediatr Nephrol 2018 Mar 28. Epub 2018 Mar 28.
    Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok, 10150, Thailand.
    Background: Evidence has indicated that immediate family members of nephrolithiasis patients had high opportunity to develop stones. However, they are usually not regarded to be at risk, since it is unclear if there are any lithogenic abnormalities found in non-stone-forming nephrolithiasis relatives. Our aim was to investigate urinary metabolic abnormalities in the children of nephrolithiasis patients, compared with the general population. Read More

    A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
    Clin Chim Acta 2018 Mar 21;482:8-13. Epub 2018 Mar 21.
    Laboratory of Clinical Pathology and Advanced Molecular Diagnostics, Istituto Dermopatico dell'Immacolata -IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Roma, Italy. Electronic address:
    Introduction: Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D catabolism pathway, resulting in a syndrome characterized by recurrent hypercalcemia, hypercalciuria and suppressed parathyroid hormone (PTH) levels. In these patients, the genetic evaluation of CYP24A1 is an important diagnostic tool, allowing the definitive diagnosis of IIH. Read More

    Vitamin D, Hypercalciuria and Kidney Stones.
    Nutrients 2018 Mar 17;10(3). Epub 2018 Mar 17.
    Department: UMR S 1155, Sorbonne Université-UPMC Paris 06, F-75020 Paris, France.
    The estimated lifetime risk of nephrolithiasis is growing nowadays, and the formation of kidney stones is frequently promoted by hypercalciuria. Vitamin D, and especially its active metabolite calcitriol, increase digestive calcium absorption-as urinary calcium excretion is directly correlated with digestive calcium absorption, vitamin D metabolites could theoretically increase calciuria and promote urinary stone formation. Nevertheless, there was, until recently, low evidence that 25-hydroxyvitamin D serum levels would be correlated with kidney stone formation, even if high calcitriol concentrations are frequently observed in hypercalciuric stone formers. Read More

    Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
    Clin Genet 2018 Mar 13. Epub 2018 Mar 13.
    Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
    Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions. Read More

    Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.
    Case Rep Pediatr 2018 21;2018:9175271. Epub 2018 Feb 21.
    Medical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.
    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. Read More

    Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI.
    J Musculoskelet Neuronal Interact 2018 Mar;18(1):76-80
    Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
    Children with osteogenesis imperfecta (OI) type VI often have high fracture rates despite the current standard treatment with bisphosphonates. Subcutaneous injections of denosumab have been proposed as an alternative treatment approach, but safety data on denosumab in children are limited. Here we describe fluctuations in bone and mineral metabolism during denosumab treatment in four children with OI type VI who started denosumab (basic protocol: 1 mg per kg body mass every 3 months) between 1. Read More

    Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis.
    J Coll Physicians Surg Pak 2018 Mar;28(3):S21-S22
    Department of Medicine, Al-Amiri Hospital, Kuwait.
    Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. Read More

    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 01;12(1):22-26
    Department of Nephrology, Lorestan University of Medical Sciences, Khorramabad, Iran.
    Introduction: Nephrolithiasis is one of the most common urinary tract diseases. After the first episode of urinary calculus, the risk of recurrence is nearly 40% to 50% at 5 years. Nephrolithiasis is a systemic disease that is associated with some metabolic disorders. Read More

    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 Apr 24;31(2):189-196. Epub 2018 Jan 24.
    Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-8885, USA.
    Hyperuricosuric calcium urolithiasis is a condition of mixed calcium oxalate stones characterized by hyperuricosuria either in isolation or in conjunction with other risk factors for calcium oxalate stones such as hypercalciuria, hyperoxaluria, and hypocitraturia. There are three proposed physicochemical models of pathogenesis where urate in its crystalline phase via heterogeneous nucleation, in its colloidal phase via removal of crystallization inhibitors, and in solution via precipitation crystallization, can all increase propensity to calcium oxalate precipitation. Regardless of the model, the phenomenologic observation of urate increasing calcium oxalate precipitation appears solid. Read More

    [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, or and , 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 2018 Apr 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 CaCl administration after parturition improved calcium homeostasis when compared to feeding an acidogenic ration prepartum or oral CaCl administration 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 Apr 5;32(4):2148-2159. 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

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