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gitelman syndrome

Y Zhang, F Zhang, D Chen, Q Lü, L Tang, C Yang, M Lei, N Tong
Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote...
October 24, 2016: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2016: Journal of the Association of Physicians of India
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Sylva Skalova, Stepan Kutilek
Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Gouranga Santra, Rudrajit Paul, Avik Karak, Somnath Mukhopadhay
A 22 year-old lady with multi-drug-resistant pulmonary tuberculosis was on Kanamycin, Cycloserine, Ethionamide, Pyrazinamide and Moxifloxacin since more than two months. She presented with muscle cramps and carpopedal spasm. Investigation revealed hypokalemia and metabolic alkalosis. She also had hypomagnesemia, hypochloremia and hypocalciuria. Serum urea and creatinine levels were normal. Patient was treated with intravenous and oral potassium chloride. Kanamycin was stopped. Metabolic alkalosis and hypokalemia improved gradually over one month...
May 2016: Journal of the Association of Physicians of India
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
Sameer Mehta
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Sabarinath, Sanket Shah, Lavanya, Rama Bhat
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Jamal Khan
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Rajkiran Babubhai Shah, Veena R Shah, Geeta P Parikh, Kalpana S Vora
No abstract text is available yet for this article.
July 2016: Journal of Anaesthesiology, Clinical Pharmacology
Marco A Valdez-Flores, Rosa Vargas-Poussou, Sjoerd Verkaart, Omar A Z Tutakhel, Angel Valdez-Ortiz, Anne Blanchard, Cyrielle Treard, Joost G J Hoenderop, René J M Bindels, Sabina Jeleń
Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive NaCl cotransporter (NCC). Functional analysis of these mutations has been limited to the use of Xenopus laevis oocytes. The aim of the present study was, therefore, to analyze the functional consequences of NCC mutations in a mammalian cell-based assay, followed by analysis of mutated NCC protein expression as well as glycosylation and phosphorylation profiles using human embryonic kidney (HEK) 293 cells...
August 31, 2016: American Journal of Physiology. Renal Physiology
Maria Czarina Acelajado, R Michael Culpepper, Wilburn D Bolton Iii
Introduction. Gitelman's syndrome (GS) is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the renal distal convoluted tubule. Physiologic changes of pregnancy promote renal potassium wasting, but serum potassium levels are kept in the physiologic range by increased levels of progesterone, which resist kaliuresis. In the presence of GS, this compensatory mechanism is easily overwhelmed, resulting in profound hypokalemia. We present a case of an 18-year-old primigravida with undiagnosed GS who presented with hyperemesis gravidarum in her 7th week of pregnancy...
2016: Case Reports in Medicine
Ting Liu, Cui Wang, Jingru Lu, Xiangzhong Zhao, Yanhua Lang, Leping Shao
BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, and follow-up in the largest group of Chinese patients with GS. METHODS: Sixty-seven patients with GS underwent SLCl2A3 analysis, and their clinical characteristics and biochemical findings as well as follow-up were reviewed, aiming to achieve a better description of GS...
2016: American Journal of Nephrology
L Calo', U Vertolli, E Pagnin, V Ravarotto, E Naso, G Maiolino, A Naso
OBJECTIVE: Cardiovascular disease (CVD) is the leading cause of excess mortality in chronic kidney disease (CKD) and dialysis patients (DP) who have higher prevalence of left ventricular hypertrophy (LVH), the strongest predictor of CV events. Rho kinase (ROCK) activation is linked in hypertensive patients to cardiac remodeling while ROCK inhibition suppresses cardiomyocyte hypertrophy and, in a human model opposite to hypertension such as Bartter's/Gitelman's syndromes patients, its downregulation associates with lack of CV remodeling...
September 2016: Journal of Hypertension
V Ravarotto, D Loffing-Cueni, E Pagnin, L A Calo', G P Rossi, L Loffing
OBJECTIVE: Gitelman's syndrome (GS) is a rare autosomal disease characterized by electrolytic alterations. Clinical features are hyperkalemia, hypomagnesemia and hypocalciuria, and hypo- or normotension notwithstanding marked activation of the renin-angiotensin-aldosterone system. These abnormalities are due to mutations affecting the thiazide sensitive Na-Cl cotransporter (NCC), which reabsorbs sodium in the distal convoluted tubule of the nephron. Over 100 mutations are known, but the molecular mechanisms underlying the impaired function remained unclear...
September 2016: Journal of Hypertension
(no author information available yet)
<strong>Objective </strong>To investigate the value of chloride clearance test in differential diagnosis of Gitelman syndrome (GS). <strong>Methods </strong>For patients with hypokalemic metabolic alkalosis and highly suspected GS,clinical data were documented and SLC12A3 gene screening was performed as gold standard to diagnose GS. Hydrochlorothiazide (HCT) test and furosemide (FUR) test were performed according to the standard process. Baseline and maximal increasement of chloride excretion fraction (FECl,the net and relative increase measured as εFECl) were compared between patients and controls to evaluated the reaction to the corresponding diuretics...
June 10, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
Jun Ma, Hong Ren, Li Lin, Chunli Zhang, Zhaohui Wang, Jingyuan Xie, Ping-Yan Shen, Wen Zhang, Weiming Wang, Xiao-Nong Chen, Nan Chen
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China are limited. We investigated the clinical manifestations and genetic features of Chinese patients with GS. METHODS: Fifty-four unrelated Chinese patients with clinically diagnosed GS were included. Clinical manifestations and biochemical parameters were collected and analyzed...
2016: American Journal of Nephrology
Yaerim Kim, Seong Sik Kang, Woo Yeong Park, Kyubok Jin, Dae-Kwang Kim, Seungyeup Han
A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria. The arterial blood gas analysis showed hypochloremic metabolic alkalosis. He had an ultrasonography guided renal biopsy, the result was normal at light microscopy and immunofluorescence microscopy. However, a special stain for Na-Cl cotransporter was weakly expressed compared with the control...
June 2016: Electrolyte & Blood Pressure: E & BP
Bing Pan, Lijun Mou, Huichun Li, Weibo Liu, Ying Hu
INTRODUCTION: Gitelman syndrome(GS) is a rare inherited tubular disorder which is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Here, we report a case of schizophrenia-like psychosis concomitant with GS and related literatures are reviewed. CASE DESCRIPTION: An 18-year-old male patient with 1-week history of auditory hallucinations, sense of insecurity, delusions of reference and feelings of being followed and controlled by others unknown, insomnia was admitted to Psychiatry department in December, 2013...
2016: SpringerPlus
A Zabotti, P Della Siega, L Picco, L Quartuccio, M Bassetti, S De Vita
Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and paresthesiae. We describe a case of a 43 year-old male patient with early onset of knee arthritis and no other symptoms. Ultrasound revealed diffuse and confluent hyperechoic deposits in cartilage, fibrocartilage of the menisci and synovium and calcium pyrophosphate crystals were observed in the synovial fluid of the knee...
2016: Reumatismo
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