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Hypercalciuria

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https://www.readbyqxmd.com/read/28522130/primary-hyperparathyroidism-hypercalciuria-and-bone-recovery-after-parathyroidectomy
#1
Inga-Lena Nilsson, Sophie Norenstedt, Jan Zedenius, Ylva Pernow, Robert Bränström
BACKGROUND: In primary hyperparathyroidism, successful parathyroidectomy leads to improved bone mineral density in the majority of cases. Our aim was to further explore the relationship between hypercalciuria, kidney function, and bone recovery after parathyroidectomy. METHODS: Bone mineral density, estimated glomerular filtration rate, and 24-hour urinary calcium were analyzed before and one year after parathyroidectomy in a cohort of 150 primary hyperparathyroidism patients (119 women; median age 60 [range 30-80] years) taking part in a clinical trial...
May 15, 2017: Surgery
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#2
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#3
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458767/evaluation-of-vitamin-d3-intakes-up-to-15-000-international-units-day-and-serum-25-hydroxyvitamin-d-concentrations-up-to-300-nmol-l-on-calcium-metabolism-in-a-community-setting
#4
S M Kimball, N Mirhosseini, M F Holick
Supplementation by the general public with vitamin D at doses above the Tolerable Upper Level of Intake (UL) is becoming quite common. The objective of the current analysis was to characterize the effect of vitamin D supplementation at doses up to 15,000 IU/d in a community-based program on vitamin D status, calcium homeostasis as well as on kidney, liver and immune function. We evaluated data collected for 3,882 participants in a community program for whom there were blood measurements at program entry and at follow-up within 6-18 months between 2013 and 2015...
2017: Dermato-endocrinology
https://www.readbyqxmd.com/read/28458427/antiurolithiatic-and-antioxidant-efficacy-of-musa-paradisiaca-pseudostem-on-ethylene-glycol-induced-nephrolithiasis-in-rat
#5
Padma Nibash Panigrahi, Sahadeb Dey, Monalisa Sahoo, Ananya Dan
OBJECTIVE: Musa paradisiaca has been used in the treatment of urolithiasis by the rural people in South India. Therefore, we plan to evaluate its efficacy and possible mechanism of antiurolithiatic effect to rationalize its medicinal use. MATERIALS AND METHODS: Urolithiasis was induced in hyperoxaluric rat model by giving 0.75% ethylene glycol (EG) for 28 days along with 1% ammonium chloride (AC) for the first 14 days. Antiurolithiatic effect of aqueous-ethanol extract of M...
January 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/28457074/nephrolithiasis-in-israel-epidemiological-characteristics-of-return-patients-in-a-tertiary-care-center
#6
Yasmin Abu-Ghanem, Nir Kleinmann, Harry Z Winkler, Dorit E Zilberman
BACKGROUND: The prevalence and etiology of nephrolithiasis vary, depending on geography, gender and ethnicity. OBJECTIVES: To analyze the demographic data of return nephrolithiasis patients in a tertiary care center. METHODS: We retrospectively reviewed our prospective registry database of return patients seen at our outpatient clinic for nephrolithiasis. Data included gender, age at first visit, age at first stone event, body mass index (BMI), self-reported hypertension, diabetes mellitus (DM), and hyperlipidemia...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28448530/response-of-npt2a-knockout-mice-to-dietary-calcium-and-phosphorus
#7
Yuwen Li, Daniel Caballero, Julian Ponsetto, Alyssa Chen, Chuanlong Zhu, Jun Guo, Marie Demay, Harald Jüppner, Clemens Bergwitz
Mutations in the renal sodium-dependent phosphate co-transporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis, but the relative contribution of genotype, dietary calcium and phosphate to the formation of renal mineral deposits is unclear. We previously reported that renal calcium phosphate deposits persist and/or reappear in older Npt2a-/- mice supplemented with phosphate despite resolution of hypercalciuria while no deposits are seen in wild-type (WT) mice on the same diet...
2017: PloS One
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#8
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28422036/physicochemical-factors-of-the-urine-of-children-with-hypercalciuria
#9
Mercedes Ubetagoyena-Arrieta, Jorge Martínez Sáenz de Jubera, María Nieves Corera-Casty, Eduardo González Pérez-Yarza, Irati García-Albizua
OBJECTIVE: Hypercalciuria is a common lithogenic risk factor. The aim of this study was, first, to study the characteristics of urine biochemical factors of children with hypercalciuria (HC) and compare them with those of children without hypercalciuria. Second, to analyze the differences between children with HC and lithiasis (HCL) and children with HC and no lithiasis (HCNL). METHODS: The sample was composed by 111 cases with HC, divided into 2 groups: HCNL group, consisting of 93 cases with no personal history of kidney stones, and HCL group, 18 cases with personal history of kidney stones...
April 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28420322/epidemiology-of-paediatric-renal-stone-disease-a-22-year-single-centre-experience-in-the-uk
#10
Naomi Issler, Stephanie Dufek, Robert Kleta, Detlef Bockenhauer, Naima Smeulders, William Van't Hoff
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology. METHODS: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted...
April 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28388724/thiazide-treatment-in-primary-hyperparathyroidism-a-new-indication-for-an-old-medication
#11
Gloria Tsvetov, Dania Hirsch, Ilan Shimon, Carlos Benbassat, Hiba Masri-Iraqi, Alexander Gorshtein, Dana Herzberg, Tzippy Shochat, Ilana Shraga-Slutzky, Talia Diker-Cohen
Context: There is no therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazides are used for idiopathic hypercalciuria but are avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. Objective: To test the safety and efficacy of thiazides in PHPT. Design: Retrospective analysis of medical records. Setting: Endocrine clinic at a tertiary hospital...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#12
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian, Georges Deschenes, Theresa Kwon, Aurélia Bertholet-Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, Paul Cozette, Jean Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde-Chiche, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Djamal Djeddi, Brigitte Llanas, Ferielle Louillet, Elodie Merieau, Maria Mileva, Luisa Mota-Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwenaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas-Poussou
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations...
April 5, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28373577/parathyroid-hormone-controls-paracellular-ca-2-transport-in-the-thick-ascending-limb-by-regulating-the-tight-junction-protein-claudin14
#13
Tadatoshi Sato, Marie Courbebaisse, Noriko Ide, Yi Fan, Jun-Ichi Hanai, Jovana Kaludjerovic, Michael J Densmore, Quan Yuan, Hakan R Toka, Martin R Pollak, Jianghui Hou, Beate Lanske
Renal Ca(2+) reabsorption is essential for maintaining systemic Ca(2+) homeostasis and is tightly regulated through the parathyroid hormone (PTH)/PTHrP receptor (PTH1R) signaling pathway. We investigated the role of PTH1R in the kidney by generating a mouse model with targeted deletion of PTH1R in the thick ascending limb of Henle (TAL) and in distal convoluted tubules (DCTs): Ksp-cre;Pth1r(fl/fl) Mutant mice exhibited hypercalciuria and had lower serum calcium and markedly increased serum PTH levels. Unexpectedly, proteins involved in transcellular Ca(2+) reabsorption in DCTs were not decreased...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28365270/calcium-to-citrate-ratio-distinguishes-solitary-and-recurrent-urinary-stone-forming-children
#14
William DeFoor, Elizabeth Jackson, Marion Schulte, Zaheer Alam, John Asplin
PURPOSE: The prevalence of urinary stone disease is increasing in children. We previously reported a high rate of urinary metabolic abnormalities, including hypercalciuria and hypocitraturia, in stone forming children. In this study we determined whether calcium-to-citrate ratio could help predict those at risk for recurrent stone formation. MATERIALS AND METHODS: We conducted a retrospective cohort study to assess calcium-to-citrate ratios in children with urolithiasis...
March 30, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28357180/diagnosis-and-treatment-of-dent-disease-in-10-chinese-boys
#15
Guohua He, Hongwen Zhang, Fang Wang, Xiaoyu Liu, Huijie Xiao, Yong Yao
Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28351028/influence-of-feeding-types-during-the-first-months-of-life-on-calciuria-levels-in-healthy-infants-a-secondary-analysis-from-a-randomized-clinical-trial
#16
Natalia Ferré, Carmen Rubio-Torrents, Veronica Luque, Ricardo Closa-Monasterolo, Veit Grote, Berthold Koletzko, Piotr Socha, Dariusz Gruszfeld, Jean Paul Langhendries, Anne Sengier, Elvira Verduci, Joaquin Escribano
BACKGROUND/AIMS: Dietary factors can modify calciuria. We aim to investigate urinary calcium excretion in healthy infants according to their protein. METHODS: Secondary data analysis from a randomized clinical trial where healthy term infants were randomized after birth to a higher (HP) or lower (LP) protein content formula that was consumed until age 1 year. A non-randomized group of breastfed (BF) infants was used for reference. Anthropometry, dietary intakes and calciuria (calcium/creatinine ratios) from spot urine samples were assessed at ages 3 and 6 months...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28335477/association-between-circulating-vitamin-d-level-and-urolithiasis-a-systematic-review-and-meta-analysis
#17
REVIEW
Henglong Hu, Jiaqiao Zhang, Yuchao Lu, Zongbiao Zhang, Baolong Qin, Hongbin Gao, Yufeng Wang, Jianning Zhu, Qing Wang, Yunpeng Zhu, Yang Xun, Shaogang Wang
Many studies compared the serum/plasma 1,25 dihydroxyvitamin D₃ (1,25(OH)₂D) and 25 hydroxyvitamin D₃ (25(OH)D) between people with and without nephrolithiasis, and their results were conflicting. After systematically searching PubMed, Web of Science, The Cochrane Library, CNKI, and the Wanfang Database, we conducted a meta-analysis. Thirty-two observational studies involving 23,228 participants were included. Meta-analysis of these studies showed that of stone formers (SFs), calcium SFs had significantly higher concentrations of 1,25(OH)₂D (weighted mean difference (WMD), 10...
March 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28327689/unusual-case-of-failure-to-thrive-type-iii-bartter-syndrome
#18
S Agrawal, K Subedi, P Ray, A Rayamajhi
Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28324001/cyp3a4-induction-by-rifampin-an-alternative-pathway-for-vitamin-d-inactivation-in-patients-with-cyp24a1-mutations
#19
Colin Patrick Hawkes, Dong Li, Hakon Hakonarson, Kevin E Meyers, Kenneth E Thummel, Michael A Levine
Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low-calcium diet, reduced dietary vitamin D intake, and limited sunlight exposure. CYP3A4 is a P450 enzyme that inactivates many drugs and xenobiotics and may represent an alternative pathway for inactivation of vitamin D metabolites...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28294593/effect-of-vitamin-d-replacement-in-primary-hyperparathyroidism-with-concurrent-vitamin-d-deficiency-a-systematic-review-and-meta-analysis
#20
Huai Heng Loh, Lee Ling Lim, Anne Yee, Huai Seng Loh, Shireene R Vethakkan
INTRODUCTION: We conducted a meta-analysis to assess the effects of vitamin D replacement on biochemical and skeletal parameters in subjects with mild primary hyperparathyroidism (PHPT) and coexistent vitamin D deficiency. EVIDENCE ACQUISITION: A systematic search of all English-language medical literature published from 1980 till May 2016 using Pubmed, Embase and Ovid was performed. Nine observational studies were evaluated after fulfilling the inclusion and exclusion criteria...
March 14, 2017: Minerva Endocrinologica
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