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https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#1
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27885183/-osteoporosis-and-mechano-biosciences
#2
Toshio Matsumoto
Mechanical unloading due to long-term bedrest or microgravity during spaceflight causes a devastating influence on bone. Although bisphosphonates can prevent bone loss and hypercalciuria by mechanical unloading for up to 6 months, the influence of unloading for longer period of time is unknown. This is because mechanical loading is one of the most important stimuli for bone formation. Mechanical stress activates several intracellular signaling pathways. Among them, activation of stress-activated cation channel by fluid shear stress stimulates ERK-CREB signaling to enhance the expression of fos family transcription factors, which stimulates IL-11 expression in osteoblastic cells...
2016: Clinical Calcium
https://www.readbyqxmd.com/read/27853022/utility-of-optical-coherence-tomography-in-a-case-of-bilateral-congenital-macular-coloboma
#3
José Enrique Muñoz de Escalona Rojas, Aurora Quereda Castañeda, Olga García García
Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27815594/wnk-signalling-pathways-in-blood-pressure-regulation
#4
REVIEW
Meena Murthy, Thimo Kurz, Kevin M O'Shaughnessy
Hypertension (high blood pressure) is a major public health problem affecting more than a billion people worldwide with complications, including stroke, heart failure and kidney failure. The regulation of blood pressure is multifactorial reflecting genetic susceptibility, in utero environment and external factors such as obesity and salt intake. In keeping with Arthur Guyton's hypothesis, the kidney plays a key role in blood pressure control and data from clinical studies; physiology and genetics have shown that hypertension is driven a failure of the kidney to excrete excess salt at normal levels of blood pressure...
November 4, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27813709/serum-1-25-dihydroxyvitamin-d-as-a-biomarker-of-the-absence-of-hypercalciuria-in-postsurgical-hypoparathyroidism
#5
Luis García-Pascual, María José Barahona, Verónica Perea, Rafael Simó
CONTEXT: Hypercalciuria is an adverse event of postsurgical hypoparathyroidism treatment which can lead to renal complications. The collection of 24-hour urine to detect hypercalciuria is often considered unreliable. OBJECTIVE: To find useful predictive biomarkers of hypercalciuria in patients with permanent postsurgical hypoparathyroidism under treatment with oral calcium and calcitriol supplements. DESIGN: Prospective cross-sectional study...
November 4, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27784695/impaired-urinary-osteopontin-excretion-in-npt2a-mice
#6
Daniel Caballero, Yuwen Li, Julian Ponsetto, Chuanlong Zhu, 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. Oral phosphate supplementation is currently thought to reduce risk by reversing the hypercalciuria, but the exact mechanism remains unclear and the relative contribution of modifiers of mineralization such as osteopontin (Opn) to the formation of renal mineral deposits in renal phosphate wasting disorders has not been studied. We observed a marked decrease of renal gene expression and urinary excretion of Opn in Npt2a-/- mice, a mouse model of these disorders, at baseline...
October 26, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27771652/fanconi-bickel-syndrome-with-hypercalciuria-due-to-glut-2-mutation
#7
Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid
BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria. OUTCOME: A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome. MESSAGE: Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27744630/metabolic-risk-factors-in-pediatric-stone-formers-a-report-from-an-emerging-economy
#8
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
https://www.readbyqxmd.com/read/27720411/hyponatremia-as-presentation-in-a-patient-with-neurosarcoidosis
#9
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
https://www.readbyqxmd.com/read/27711095/metabolic-evaluation-in-patients-with-infected-nephrolithiasis-is-it-necessary
#10
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
https://www.readbyqxmd.com/read/27708066/long-term-renal-outcome-in-children-with-ocrl-mutations-retrospective-analysis-of-a-large-international-cohort
#11
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
https://www.readbyqxmd.com/read/27692178/the-calcium-sensing-receptor-in-health-and-disease
#12
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
https://www.readbyqxmd.com/read/27686437/-the-clinical-characteristics-of-128-childhood-and-adolescent-onset-hypoparathyroidism-in-peking-union-medical-college-hospital-a-retrospective-analysis
#13
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]
https://www.readbyqxmd.com/read/27683282/comparison-of-300-000-and-600-000%C3%A2-iu-oral-vitamin-d-bolus-for-vitamin-d-deficiency-in-young-children
#14
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
https://www.readbyqxmd.com/read/27671701/derangement-of-calcium-metabolism-in-diabetes-mellitus-negative-outcome-from-the-synergy-between-impaired-bone-turnover-and-intestinal-calcium-absorption
#15
REVIEW
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...
January 2017: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/27641936/do-overweight-and-obese-pediatric-stone-formers-have-differences-in-metabolic-abnormalities-compared-with-normal-weight-stone-formers
#16
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
https://www.readbyqxmd.com/read/27639704/a-novel-cyp24a1-genotype-associated-to-a-clinical-picture-of-hypercalcemia-nephrolithiasis-and-low-bone-mass
#17
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
https://www.readbyqxmd.com/read/27604776/hypercalcemia-hypercalciuria-and-kidney-stones-in-long-term-studies-of-vitamin-d-supplementation-a-systematic-review-and-meta-analysis
#18
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
https://www.readbyqxmd.com/read/27601015/mechanisms-in-endocrinology-kidney-involvement-in-patients-with-primary-hyperparathyroidism-an-update-on-clinical-and-molecular-aspects
#19
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
https://www.readbyqxmd.com/read/27598490/-lithogenic-risk-in-patients-from-paraguay-with-urolithiasis
#20
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
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