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Kiran Imran, Mirza Naqi Zafar, Uzma Ozair, Sadia Khan, Syed Adibul Hasan Rizvi
The goal of this study was to investigate metabolic risk factors in pediatric stone formers in an emerging economy. A prospective, data collection enrolled 250 children age <1-15 years at our center. Risk factors were evaluated by gender and in age groups <1-5, 6-10 and 11-15 years. Patients were evaluated for demographics, blood and 24 h urine for calcium, magnesium, phosphate, uric acid, electrolytes and additional protein, citrate, ammonia and oxalate in urine. All reported values were two sided and statistical significance was considered at p value ≤0...
October 15, 2016: Urolithiasis
Ekin Akyildiz, Murat Yalcin, Fidan Sever, Hüseyin Semiz, Senol Kobak
Sarcoidosis is an inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, eye and musculoskeletal system involvement. Hypercalcemia and hypercalciuria are important electrolyte imbalances resulting from sarcoidosis and sometimes they may cause nephrolitiasis and kidney failure. Hyponatremia, although being quite rare, has been found in some patients with sarcoidosis. Herein, we have reported a patient with neurosarcoidosis who presented with hyponatremia and responded well to corticosteroid treatment...
October 5, 2016: Reumatología Clinica
Elisa Cicerello, Mario Mangano, Gian Davide Cova, Franco Merlo, Luigi Maccatrozzo
Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Urinary excretion of citrate was low in both groups without statistically significant difference (238+/-117 mg/24 h vs 214+/-104 mg/24/h, t = 0...
October 5, 2016: Archivio Italiano di Urologia, Andrologia
Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepańska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemień, Dariusz Runowski, Grzegorz Siteń, Iga Załuska-Leśniewska, Patrizia Fonduli, Franca Zurrida, Fabio Paglialonga, Zoran Gucev, Dusan Paripovic, Rina Rus, Valerie Said-Conti, Lisa Sartz, Woo Yeong Chung, Se Jin Park, Jung Won Lee, Yong Hoon Park, Yo Han Ahn, Przemysław Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization...
October 5, 2016: Nephrology, Dialysis, Transplantation
G Díaz-Soto, A Rocher, C García-Rodríguez, L Núñez, C Villalobos
The extracellular calcium-sensing receptor (CaSR) is a unique G protein-coupled receptor (GPCR) activated by extracellular Ca(2+) and by other physiological cations including Mg(2+), amino acids, and polyamines. CaSR is the most important master controller of the extracellular Ca(2+) homeostatic system being expressed at high levels in the parathyroid gland, kidney, gut and bone, where it regulates parathyroid hormone (PTH) secretion, vitamin D synthesis, and Ca(2+) absorption and resorption, respectively. Gain and loss of function mutations in the CaSR are responsible for severe disturbances in extracellular Ca(2+) metabolism...
2016: International Review of Cell and Molecular Biology
Y P Li, T T Quan, O Wang, Y Jiang, Y Y Hu, W B Xia, M Li, X W Meng, X P Xing
Objective: To study the clinical characteristics of childhood- and adolescent- onset hypoparathyroidism. Methods: The clinical data of 128 hypoparathyroidism patients with onset before the age of 18 years were collected and analyzed retrospectively. Results: The predominant features of the hypoparathyroidism were carpopedal spasm (89.3%, 108/121) and seizures (66.1%, 84/127). Intracranial calcification was identified in 89.4%(101/113) of the patients. Duration is an independent predictive factor (OR=1.483, P=0...
October 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Jiyalal Harnot, Sanjay Verma, Sunit Singhi, Naveen Sankhyan, Naresh Sachdeva, Bhavneet Bharti
OBJECTIVE: To compare the efficacy and safety of 300,000 and 600,000 IU vitamin-D single-oral dose for the treatment of vitamin-D deficiency (VDD) in young children (3 mo - 3 y). METHODS: This double-blind randomized control trial (Clinical Trail Registration-CTRI/2012/05/002621) was conducted in the Pediatric out-patient department (OPD) at a tertiary-care referral hospital. Children (3 mo - 3 y) with clinical/radiological features suggestive of VDD were screened; those found to be having 25(OH)D below 15 ng/ml and meeting inclusion and exclusion criteria's were enrolled after taking informed consent...
September 29, 2016: Indian Journal of Pediatrics
Kannikar Wongdee, Nateetip Krishnamra, Narattaphol Charoenphandhu
Both types 1 and 2 diabetes mellitus (T1DM and T2DM) are associated with profound deterioration of calcium and bone metabolism, partly from impaired intestinal calcium absorption, leading to a reduction in calcium uptake into the body. T1DM is associated with low bone mineral density (BMD) and osteoporosis, whereas the skeletal changes in T2DM are variable, ranging from normal to increased and to decreased BMD. However, both types of DM eventually compromise bone quality through production of advanced glycation end products and misalignment of collagen fibrils (so-called matrix failure), thereby culminating in a reduction of bone strength...
September 26, 2016: Journal of Physiological Sciences: JPS
Gina M Cambareri, Dana W Giel, Aaron P Bayne, Sean Corbett, Elleson Schurtz, Larisa Kovacevic, Troy Sukhu, Michael Yap, George Chiang
OBJECTIVE: To determine if 24-hour urinary parameters in children with nephrolithiasis across four institutions were influenced by body mass index (BMI). MATERIALS AND METHODS: The 24-hour urinary parameters obtained from children with nephrolithiasis between 2000-2013 were stratified by BMI percentile ≥85th and <85th (overweight and obese patients versus healthy weight, respectively). A total of 206 children were included in the study. Exclusion criteria included patients with a history of spina bifida, neurogenic bladder, cerebral palsy and patients on medical treatment before the first 24-hour urine collection...
September 15, 2016: Urology
Pietro Manuel Ferraro, Angelo Minucci, Aniello Primiano, Elisa De Paolis, Jacopo Gervasoni, Silvia Persichilli, Alessandro Naticchia, Ettore Capoluongo, Giovanni Gambaro
Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis...
September 17, 2016: Urolithiasis
Zarintaj Malihi, Zhenqiang Wu, Alistair W Stewart, Carlene Mm Lawes, Robert Scragg
BACKGROUND: Vitamin D supplementation is increasingly being used in higher doses in randomized controlled trials (RCTs). However, adverse events from very large annual doses of vitamin D have been shown in 2 RCTs, whereas in a third RCT, low-dose vitamin D, with calcium supplements, was shown to increase kidney stone risk. OBJECTIVE: We analyzed the side effects related to calcium metabolism in RCTs, specifically hypercalcemia, hypercalciuria, and kidney stones, in participants who were given vitamin D supplements for ≥24 wk compared with in subjects in the placebo arm...
October 2016: American Journal of Clinical Nutrition
Chiara Verdelli, Sabrina Corbetta
Primary hyperparathyroidism (PHPT) is the third most common endocrine disease. Kidney is a target of both chronic elevated PTH and calcium in PHPT. The classic PHPT complications of symptomatic kidney stones and nephrocalcinosis have become rare and the PHPT current presentation is asymptomatic with uncertain and long lasting progression. Nonetheless, the routinely use of imaging and of biochemical determinations have revealed the frequent occurrence of asymptomatic kidney stones, hypercalciuria and reduced kidney function in asymptomatic PHPT patients...
September 6, 2016: European Journal of Endocrinology
Patricia Funes, Gloria Echagüe, Irene Ruiz, Lourdes Rivas, Jorge Zenteno, Rosa Guillén
UNLABELLED: The lithogenic risk profile is a graphical representation of metabolic factors and urinary saturation involved in the stone formation with their respective critical values. AIM: To determine the lithogenic risk profile in patients with urolithiasis. MATERIAL AND METHODS: Personal data such as anthropometric, history of diseases and family history of urolithiasis were recorded. Different compounds acting as promoters or inhibitors of crystallization were measured in serum and urine samples, and the data obtained were used to calculate urinary saturation using Equil software...
June 2016: Revista Médica de Chile
Adrian R Martineau, Christopher J Cates, Mitsuyoshi Urashima, Megan Jensen, Alex P Griffiths, Ulugbek Nurmatov, Aziz Sheikh, Chris J Griffiths
BACKGROUND: Several clinical trials of vitamin D to prevent asthma exacerbation and improve asthma control have been conducted in children and adults, but a meta-analysis restricted to double-blind, randomised, placebo-controlled trials of this intervention is lacking. OBJECTIVES: To evaluate the efficacy of administration of vitamin D and its hydroxylated metabolites in reducing the risk of severe asthma exacerbations (defined as those requiring treatment with systemic corticosteroids) and improving asthma symptom control...
September 5, 2016: Cochrane Database of Systematic Reviews
Peter J Tebben, Ravinder J Singh, Rajiv Kumar
Hypercalcemia occurs in up to 4% of the population in association with malignancy, primary hyperparathyroidism, ingestion of excessive calcium and/or vitamin D, ectopic production of 1,25-dihydroxyvitamin D [1,25(OH)2D], and impaired degradation of 1,25(OH)2D. The ingestion of excessive amounts of vitamin D3 (or vitamin D2) results in hypercalcemia and hypercalciuria due to the formation of supraphysiological amounts of 25-hydroxyvitamin D [25(OH)D] that bind to the vitamin D receptor, albeit with lower affinity than the active form of the vitamin, 1,25(OH)2D, and the formation of 5,6-trans 25(OH)D, which binds to the vitamin D receptor more tightly than 25(OH)D...
October 2016: Endocrine Reviews
Sampat Sindhar, Michael Lugo, Mark D Levin, Joshua R Danback, Benjamin D Brink, Eric Yu, Dennis J Dietzen, Amy L Clark, Carolyn A Purgert, Jessica L Waxler, Robert W Elder, Barbara R Pober, Beth A Kozel
OBJECTIVE: To evaluate the timing, trajectory, and implications of hypercalcemia in Williams-Beuren syndrome (WBS) through a multicenter retrospective study. STUDY DESIGN: Data on plasma calcium levels from 232 subjects with WBS aged 0-67.1 years were compared with that in controls and also with available normative data. Association testing was used to identify relevant comorbidities. RESULTS: On average, individuals with WBS had higher plasma calcium levels than controls, but 86...
August 26, 2016: Journal of Pediatrics
Katia Maruca, Ilaria Brambilla, Alessandra Mingione, Lorenzo Bassi, Silvia Capelli, Caterina Brasacchio, Laura Soldati, Mariangela Cisternino, Stefano Mora
Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum concentration of parathyroid hormone, not accompanied by classic clinical signs of hypocalcemia. Treatment with calcitriol and calcium did not normalize serum calcium and renal calcium excretion. The use of thiazide diuretics slightly reduced calciuria. Despite high calcium excretion, no signs of nephrocalcinosis were detected...
August 22, 2016: Molecular and Cellular Endocrinology
Andy Fox, Rodney Gilbert
AIM: We report the effective use of the synthetic parathyroid hormone (PTH) teriparatide to treat a 4 year old boy with autosomal dominant hypocalcaemia. BACKGROUND: Autosomal Dominant hypocalcaemia is characterised by hypocalcaemia with a lack of parathyroid hormone (PTH) response and inappropriately high urinary calcium excretion. It is caused by gain-of-function mutations in the extracellular calcium sensing receptor which then "over-reads" the extracellular fluid concentration of calcium resulting in suppression of PTH secretion...
September 2016: Archives of Disease in Childhood
Paulo Marcio Yamaguti, Francisco de Assis Rocha Neves, Dominique Hotton, Claire Bardet, Muriel de La Dure-Molla, Luiz Claudio Castro, Maria do Carmo Scher, Maristela Estevão Barbosa, Christophe Ditsch, Jean-Christophe Fricain, Renaud de La Faille, Marie-Lucile Figueres, Rosa Vargas-Poussou, Pascal Houiller, Catherine Chaussain, Sylvie Babajko, Ariane Berdal, Ana Carolina Acevedo
BACKGROUND: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19...
August 16, 2016: Journal of Medical Genetics
Roswitha Siener, Florian Struwe, Albrecht Hesse
OBJECTIVE: To determine the physiological effects following administration of the sulfur-containing amino acid L-methionine on urinary risk factors for calcium oxalate and phosphate stone formation under controlled, standardized conditions. METHODS: Twelve healthy subjects were studied while consuming a standardized diet for 6 days. Day 5 was considered as control day. On day 6 (test day) participants received 1,500 mg L-methionine at 9 am. On the control and test days 24 hour fractional urine collections were obtained...
August 9, 2016: Urology
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