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Hypercalciuria

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https://www.readbyqxmd.com/read/28221141/-etiopathogenic-factors-of-the-different-types-of-urinary-litiasis
#1
Miguel Arrabal-Martín, María Carmen Cano-García, Miguel Ángel Arrabal-Polo, Alejandro Domínguez-Amillo, Nelson Canales-Casco, Javier de la Torre-Trillo, José Manuel Cózar-Olmo
In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. As we well know, there are different factors that influence the formation of the calculi depending on their composition...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28220601/multiple-sclerosis-and-nephrolithiasis-a-matched-case-comparative-study
#2
Vishnu Ganesan, Wen Min Chen, Rajat Jain, Shubha De, Manoj Monga
OBJECTIVE: To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation. MATERIALS AND METHODS: In this retrospective case-control study, we identified patients diagnosed with multiple sclerosis and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to 2 controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index (BMI), and sex...
February 20, 2017: BJU International
https://www.readbyqxmd.com/read/28216084/vitamin-d-supplementation-guidelines
#3
Pawel Pludowski, Michael F Holick, William B Grant, Jerzy Konstantynowicz, Mario R Mascarenhas, Afrozul Haq, Vladyslav Povoroznyuk, Nataliya Balatska, Ana Paula Barbosa, Tatiana Karonova, Ema Rudenka, Waldemar Misiorowski, Irina Zakharova, Alena Rudenka, Jacek Łukaszkiewicz, Ewa Marcinowska-Suchowierska, Natalia Łaszcz, Pawel Abramowicz, Harjit P Bhattoa, Sunil J Wimalawansa
Research carried out during the past two-decades extended the understanding of actions of vitamin D, from regulating calcium and phosphate absorption and bone metabolism to many pleiotropic actions in organs and tissues in the body. Most observational and ecological studies report association of higher serum 25-hydroxyvitamin D [25(OH)D] concentrations with improved outcomes for several chronic, communicable and non-communicable diseases. Consequently, numerous agencies and scientific organizations have developed recommendations for vitamin D supplementation and guidance on optimal serum 25(OH)D concentrations...
February 12, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28208537/re-hypercalcemia-hypercalciuria-and-kidney-stones-in-long-term-studies-of-vitamin-d-supplementation-a-systematic-review-and-meta-analysis
#4
Dean G Assimos
No abstract text is available yet for this article.
March 2017: Journal of Urology
https://www.readbyqxmd.com/read/28203565/tubular-dysfunction-mimicking-dent-s-disease-in-2-infants-born-with-extremely-low-birth-weight
#5
Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#6
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28188435/marked-increase-in-urinary-excretion-of-apolipoproteins-in-children-with-nephrolithiasis-associated-with-hypercalciuria
#7
Larisa Kovacevic, Hong Lu, Joseph A Caruso, Tuhina Govil-Dalela, Ronald Thomas, Yegappan Lakshmanan
BACKGROUND: Using a proteomic approach, we aimed to identify and compare the urinary excretion of proteins involved in lipid transport and metabolism in children with kidney stones and hypercalciuria (CAL), hypocitraturia (CIT), and normal metabolic work-up (NM), and in healthy controls (HCs). Additionally, we aimed to confirm these results using ELISA, and to examine the relationship between the urinary excretion of selected proteins with demographic, dietary, blood, and urinary parameters...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28152538/two-cases-of-mistaken-polyuria-and-nephrocalcinosis-in-infants-with-glucose-galactose-malabsorption-a-possible-role-of-1-25-oh-2d3%C3%A2
#8
Melissa Fiscaletti, Marie-Jeanne Lebel, Nathalie Alos, Geneviève Benoit, Prévost Jantchou
BACKGROUND/AIMS: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. CASE PRESENTATION: The first case consulted for FTT and presented with hypercalcemia and hypercalciuria. His mother had self-medicated with high doses of vitamin D...
February 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28123331/prevalence-of-hypercalciuria-and-urinary-calcium-excretion-in-school-aged-children-in-the-province-of-tokat
#9
Ali Gül, Samet Özer, Resul Yılmaz, Ergün Sönmezgöz, Tuba Kasap, Şahin Takçı, Erhan Karaaslan, Yalçın Önder, Rıza Çıtıl, İlknur Bütün, Osman Demir
AIM: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results in urolithiasis. Urinary calcium excretion varies for geographic areas. We aimed to assess percentiles of urinary calcium excretion and prevalence of hypercalciuria for school-aged children in Tokat (city located in inner northern region of Turkey). MATERIAL AND METHODS: One thousand three hundred seventy-five children aged 6 to 18 years were enrolled in the study. Urine samples were obtained randomly...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#10
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#11
REVIEW
Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, George Seki, Kyoji Moriya
Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#12
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Sequeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28093352/cyp24a1-loss-of-function-clinical-phenotype-of-monoallelic-and-biallelic-mutations
#13
REVIEW
Thomas O Carpenter
CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH)2D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH)2D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite and storage form of the vitamin. CYP24A1 can be stimulated hormonally by 1,25-(OH)2D and by FGF23, whereas CYP27B1, encoding the vitamin D-1α-hydroxylase, is stimulated hormonally by parathyroid hormone (PTH) and downregulated by FGF23...
January 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28077342/can-stoss-therapy-be-used-in-children-with-vitamin-d-deficiency-or-insufficiency-without-rickets
#14
Cemil Koçyiğit, Gönül Çatlı, Gülberat İnce, Elif Büşra Özkan, Bumin Nuri Dündar
OBJECTIVE: Stoss treatment has also been suggested due to non-skeletal benefits of vitamin D in adults, but no sufficient data are present about the optimal dose of vitamin D replacement in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10.000 IU/kg and 300.000 IU vitamin-D3) administered in children with vitamin D deficiency/insufficiency without rickets. METHODS: Sixty-four children who had vitamin-D deficiency/insufficiency were studied...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28063842/relationship-between-urinary-calcium-and-bone-mineral-density-in-patients-with-calcium-nephrolithiasis
#15
Khashayar Sakhaee, Naim M Maalouf, John Poindexter, Beverley Adams-Huet, Orson W Moe
BACKGROUND: Calcium nephrolithiasis is associated with an increased risk of osteoporosis and fracture. Hypercalciuria has been assumed to be pathogenic for bone loss in kidney stone formers (KSF), although this association was shown in small cross-sectional studies. We explored the association of urine calcium (UCaV) with bone mineral density (BMD) in KSF. METHODS: We retrospectively studied BMD in KSF. Excluded were subjects with hypercalcemia, chronic bowel disease, primary hyperparathyroidism, distal renal tubular acidosis or endogenous creatinine clearance <40 ml/min...
January 4, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28056318/-clinical-characteristics-of-adult-onset-primary-hypoparathyroidism-a-retrospective-analysis-of-200-cases
#16
T T Quan, Y P Li, O Wang, Y Jiang, W B Xia, M Li, X Q Cheng, X W Meng, X P Xing
Objective: To study the clinical characteristics of primary hypoparathyroidism in adults. Methods: The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively. Among them, 128 cases were followed up for a median period of 3 years. Results: The major manifestations at their first visits were tetany and numbness in the distal extremities(81.5%, 163/200 and 62.0%, 124/200). Thirty-two percent of the cases (62 cases) had history of seizures, and 60...
January 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#17
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27995107/evaluating-the-effectiveness-of-adding-magnesium-chloride-to-conventional-protocol-of-citrate-alkali-therapy-on-kidney-stone-size
#18
Hassan Niroomand, Amin Ziaee, Keivan Ziaee, Alaleh Gheissari
BACKGROUND: Potassium citrate (K-Cit) is one of the therapeutic solutions broadly used in patients with urolithiasis. However, recent studies have shown that it is not so effective. Therefore, the goal of our study was to evaluate the effect of a combination of K-Cit - MgCl2 oral supplements, on urinary stone size. MATERIALS AND METHODS: This study was performed on 70 asymptomatic urolithiasis cases. The supplements included K-Cit and magnesium chloride (MgCl2), purchased from (Merck Company, Germany)...
2016: Advanced Biomedical Research
https://www.readbyqxmd.com/read/27994868/outcomes-of-living-kidney-donors-with-medullary-sponge-kidney
#19
Wisit Cheungpasitporn, Charat Thongprayoon, Brady A Brabec, Wonngarm Kittanamongkolchai, Stephen B Erickson
BACKGROUND: Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied. METHODS: We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. All adults with MSK (N = 26) who underwent nephrectomy as living kidney donors between January 2000 and September 2014 were included. Non-donors with MSK (N = 78) were randomly selected by matching the year of birth and the comorbidity score with a ratio of 1:3 for comparison...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27981376/vitamin-d-deficiency-is-prevalent-among-idiopathic-stone-formers-but-does-correction-pose-any-risk
#20
Nikhil Johri, Philippe Jaeger, Pietro M Ferraro, Linda Shavit, Devaki Nair, William G Robertson, Giovanni Gambaro, Robert J Unwin
While vitamin D (vitD) deficiency is thought to contribute to poor health in a variety of ways and should be corrected, there is still concern about giving vitD supplements to patients with a history of nephrolithiasis. The aim is to study the prevalence of vitD deficiency and the effect on stone risk of cholecalciferol (vitD3) supplementation in a cohort of idiopathic stone formers (ISF). We screened for vitD deficiency and urinary measures of stone risk, comparing vitD deficient (serum 25-OH vitD ≤30 nmol/L; ≤12 ng/mL) with vitD insufficient (31-75 nmol/L; 13-30 ng/mL) or vitD replete (>75 nmol/L; >30 ng/mL); we investigated the effect of giving vitD3 (20,000 IU orally, weekly for 4 months) to 37 of the vitD deficients...
December 16, 2016: Urolithiasis
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