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Hypercalciuria

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https://www.readbyqxmd.com/read/29202723/changes-in-urinary-risk-profile-after-short-term-low-sodium-and-low-calcium-diet-in-recurrent-swiss-kidney-stone-formers
#1
Harald Seeger, Andrea Kaelin, Pietro M Ferraro, Damian Weber, Philippe Jaeger, Patrice Ambuehl, William G Robertson, Robert Unwin, Carsten A Wagner, Nilufar Mohebbi
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. While hypercalciuria is a well-known risk factor, restricted intake of animal protein and sodium, combined with normal dietary calcium, has been shown to be more effective in stone prevention compared with a low-calcium diet...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29202719/an-in-vitro-splicing-assay-reveals-the-pathogenicity-of-a-novel-intronic-variant-in-atp6v0a4-for-autosomal-recessive-distal-renal-tubular-acidosis
#2
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
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...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29201321/efficacy-of-potassium-polycitrate-on-renal-stone-and-microlithiasis-predisposed-by-metabolic-disorders
#3
Hadi Sorkhi, Nazanin Saeedizand, Mohammad Poornasrollah, Ali Bijani, Hamid Shafi
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...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#4
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29152298/medullary-nephrocalcinosis-in-idiopathic-hypercalciuria
#5
Abhilash Koratala, Vikrampal Bhatti
Idiopathic hypercalciuria is a metabolic abnormality characterized by excessive calcium excretion in the urine with normal serum calcium levels and is a common risk factor for formation of kidney stones and/or nephrocalcinosis. These patients benefit from a normal-calcium, reduced-animal protein, and low-salt diet, along with a thiazide diuretic.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29135157/-calciuria-as-a-metabolic-marker-for-various-conditions-and-diseases
#6
L V Egshatyan, N G Mokrysheva
The article analyzes the literature on the features of human calcium homeostasis. The authors describe the etiopathogenetic role of calcitropic hormones, the plasma and urine acid-base status, various ions, lifestyle and nutrition and other factors contributing to hypercalciuria due to increased intestinal absorption, bone resorption, impairment of tubular calcium reabsorption, etc. They discuss the role of calciuria as a factor in forming urinary calculi and present their own observations.
October 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29129401/deletion-of-claudin-10-rescues-claudin-16-deficient-mice-from-hypomagnesemia-and-hypercalciuria
#7
Tilman Breiderhoff, Nina Himmerkus, Hoora Drewell, Allein Plain, Dorothee Günzel, Kerim Mutig, Thomas E Willnow, Dominik Müller, Markus Bleich
The tight junction proteins claudin-10 and -16 are crucial for the paracellular reabsorption of cations along the thick ascending limb of Henle's loop in the kidney. In patients, mutations in CLDN16 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, while mutations in CLDN10 impair kidney function. Mice lacking claudin-16 display magnesium and calcium wasting, whereas absence of claudin-10 results in hypermagnesemia and interstitial nephrocalcinosis. In order to study the functional interdependence of claudin-10 and -16 we generated double-deficient mice...
November 10, 2017: Kidney International
https://www.readbyqxmd.com/read/29127708/calcimimetic-and-calcilytic-therapies-for-inherited-disorders-of-the-calcium-sensing-receptor-signalling-pathway
#8
REVIEW
Fadil M Hannan, Mie K Olesen, Rajesh V Thakker
THE CALCIUM-SENSING RECEPTOR (CAS RECEPTOR) PLAYS A PIVOTAL ROLE IN EXTRACELLULAR CALCIUM HOMEOSTASIS AND GERMLINE LOSS- AND GAIN-OF-FUNCTION MUTATIONS CAUSE FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA (FHH) AND AUTOSOMAL DOMINANT HYPOCALCAEMIA (ADH), RESPECTIVELY. CAS RECEPTOR SIGNAL TRANSDUCTION IN THE PARATHYROID GLANDS IS LIKELY REGULATED BY G-PROTEIN SUBUNIT Α11 (GΑ11) AND ADAPTOR-RELATED PROTEIN COMPLEX-2 SIGMA SUBUNIT (AP2Σ), AND RECENT STUDIES HAVE IDENTIFIED GERMLINE MUTATIONS OF THESE PROTEINS AS A CAUSE OF FHH AND/OR ADH...
November 11, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29124877/sporadic-primary-hyperparathyroidism-and-stone-disease-a-comprehensive-metabolic-evaluation-before-and-after-parathyroidectomy
#9
Giovanni S Marchini, Kauy V M Faria, Fábio C M Torricelli, Manoj Monga, Miguel Srougi, William C Nahas, Eduardo Mazzucchi
OBJECTIVES: to characterize the stone risk and the impact of parathyroidectomy on the metabolic profile of patients with primary hyperparathyroidism (PHPT) and urolithiasis. SUBJECTS AND METHODS: We analyzed the prospectively collected charts of patients treated at our stone clinic from Jan/2001-Jan/2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands were assessed. We analyzed the demographic data, serum and urinary parameters before and after parathyroidectomy...
November 10, 2017: BJU International
https://www.readbyqxmd.com/read/29116606/fanconi-syndrome-and-neonatal-diabetes-phenotypic-heterogeneity-in-patients-with-glut2-defects
#10
Priyanka Khandelwal, Aditi Sinha, Vandana Jain, Jayne Houghton, Pankaj Hari, Arvind Bagga
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age...
November 8, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29104158/moderate-salt-restriction-with-or-without-paricalcitol-in-type-2-diabetes-and-losartan-resistant-macroalbuminuria-proceed-a-randomised-double-blind-placebo-controlled-crossover-trial
#11
Aneliya Parvanova, Matias Trillini, Manuel A Podestà, Ilian Petrov Iliev, Barbara Ruggiero, Manuela Abbate, Annalisa Perna, Francesco Peraro, Olimpia Diadei, Nadia Rubis, Flavio Gaspari, Fabiola Carrara, Nadia Stucchi, Antonio Belviso, Antonio C Bossi, Roberto Trevisan, Giuseppe Remuzzi, Martin de Borst, Piero Ruggenenti
BACKGROUND: Macroalbuminuria predicts renal and cardiovascular events in patients with type 2 diabetes. We aimed to assess the albuminuria-lowering effects of salt restriction, paricalcitol therapy, or both, in this population. METHODS: In this randomised, double-blind, placebo-controlled, crossover trial, we recruited adult patients with type 2 diabetes from six diabetology outpatient clinics in northern Italy, with 24 h albuminuria of more than 300 mg despite 100 mg per day losartan therapy, blood pressure of less than 140/90 mm Hg, serum creatinine concentration of less than 2 mg/dL, stable renal function on stable renin-angiotensin system inhibitor therapy with a fixed dose of losartan, parathyroid hormone concentration of 20 pg/mL to <110 pg/mL, serum calcium concentration of less than 9·5 mg/dL, and serum phosphate concentration of less than 5 mg/dL, who had been more than 80% compliant with placebo treatment during a 1 month placebo run-in...
November 2, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#12
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29074836/-update-on-recent-progress-in-vitamin-d-research-vitamin-d-treatment-for-hypoparathyroidism
#13
Masanori Minagawa
The patients with hypoparathyroidism have been treated with active vitamin D(ie, alfacalcidol and calcitriol). Parathyroid hormone(PTH)increases extracellular calcium concentration partly through the activation of vitamin D, and active vitamin D corrects hypocalcemia mainly by increasing intestinal calcium abosorption. PTH coordinately increases blood calcium level with vitamin D in bone and kidney, however, renal tubular reabsorption of calcium is regulated by PTH-dependent mechanism. Hypercalciuria is an complication of long-term vitamin D treatment for PTH-deficient hypoparathyroidism...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/29069246/hypercalcemia-in-children-three-cases-report-with-unusual-clinical-presentations
#14
Bruna Barros Garbim, Larissa D Ávila, Sumara Zuanazi Pinto Rigatto, Kélcia Rosana da Silva Quadros, Vera Maria Santoro Belangero, Rodrigo Bueno de Oliveira
Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis...
April 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29053801/parathyroid-hormone-related-protein-induced-hypercalcemia-of-pregnancy-successfully-reversed-by-a-dopamine-agonist
#15
Elizabeth M Winter, Natasha M Appelman-Dijkstra
Context: Parathyroid hormone related protein (PTH-rP) induced hypercalcemia or pseudophyperparathyroidism during pregnancy is a condition that can result in serious foetal and maternal complications. Among others, breast tissue might be the cause of this PTH-rP production, in which case medical treatment is possible, as we describe in this case. Setting: A 32-year old woman presented in the15th week of pregnancy with massive enlargement of breasts and abdominal pain due to severe hypercalcemia, hypercalciuria and suppressed PTH...
October 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29038707/prevalence-of-idiopathic-hypercalciuria-in-children-with-urinary-system-related-symptoms-attending-a-pediatric-hospital-in-bandar-abbas-in-2014
#16
Maryam Esteghamati, Kambiz Ghasemi, Marie Nami
BACKGROUND: Idiopathic hypercalciuria is a group of diseases which can be manifested with urinary symptoms. Its importance is due to high prevalence, recurrent infections, and stone formations which are often asymptomatic. OBJECTIVE: The objective of this study was to determine the prevalence of idiopathic hypercalciuria in children with urinary system related symptoms in Bandar Abbas in 2014. METHODS: This descriptive cross-sectional study was done in 2014 in a children's hospital in Bandar Abbas (southern Iran) on 321 children who were between 2 months to 14 years old...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#17
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29021995/tumor-induced-osteomalacia
#18
Pablo Florenzano, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/29017699/urinary-calcium-excretion-and-bone-turnover-in-osteoporotic-patients%C3%A2
#19
Amr El-Husseini, Amit Chakraborty, Qingcong Yuan, Saqib Inayatullah, Heather Bush, B Peter Sawaya
INTRODUCTION: It is well documented that patients with osteoporosis (OP) have high incidence of hypercalciuria (HC). However, the mechanism of HC in patients with OP is not well established. It is thought to be the result of high bone turnover (HBT) with excessive bone resorption. OP also frequently presents with low bone turnover (LBT). At this time, it is not clear whether OP with LBT is also associated with hypercalciuria. PURPOSE: The purpose of this study is to evaluate urinary calcium excretion in osteoporotic patients with HBT and LBT...
November 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28993435/impact-of-intercurrent-illness-on-calcium-homeostasis-in-children-with-hypoparathyroidism-a-case-series
#20
A Chinoy, M Skae, A Babiker, D Kendall, M Z Mughal, R Padidela
BACKGROUND: Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism. METHODS: We describe three children with hypoparathyroidism in whom intercurrent illnesses led to hypocalcaemia and escalation of treatment with alfacalcidol (1-hydroxycholecalciferol) and calcium supplements...
November 2017: Endocrine Connections
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