Results 81 to 90 of about 2,349 (166)

Gitelman Syndrome.

open access: yesJournal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt ...
Qurat Ul Ain, Mustafa   +4 more
openaire   +1 more source

Inherited renal tubular defects with hypokalemia

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2009
Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity.
Muthukrishnan J   +3 more
doaj  

Research Analysis of SLC12A3 Gene Mutation and Molecular Mechanism in Gitelman Syndrome

open access: yes罕见病研究
ObjectiveThis study aimed at conducting retrospective analysis of the clinical symptoms and genetic mutations in 20 children with Gitelman syndrome treated at the Affiliated Children′s Hospital of Nanjing Medical University from August 2015 to November ...
WANG Chunli   +6 more
doaj   +1 more source

Phosphate Nephropathy in Gitelman Syndrome [PDF]

open access: yesKidney Medicine, 2021
Minfang Zhang   +3 more
openaire   +3 more sources

Gitelman syndrome in an infant

open access: yesIndian Journal of Nephrology, 2015
Nandi, M., Pandey, G., Sarkar, S.
openaire   +2 more sources

A case of Gitelman syndrome with proteinuria

open access: yesLinchuang shenzangbing zazhi, 2019
Gitelman综合征(Gitelman syndrome,GS)是一种常染色体隐性遗传性肾小管疾病,主要临床表现为顽固性低钾血症、低镁血症、低尿钙、低氯性碱中毒、血压正常或偏低,继发性肾素-血管紧张素-醛固酮系统(RAAS)激活,该病由Gitelman于1966年首次发现,病因为编码肾远曲小管上皮细胞上的噻嗪类敏感性Na+/Cl-协同转运体(Na+/Cl- cotransporter,NCCT)基因突变所致 ...
ZHANG Xue   +5 more
doaj  

Girl with hypokaliemia and metabolic alkalosis: a case report

open access: yesZdravniški Vestnik, 2013
Background: In cases of normotensive patients, hypokalemia with metabolic alkalosis is most frequently caused by repeated vomiting or diuretics abuse, and rarely by tubulopathies, e.g., Bartter or Gitelman syndrome (GS).
Ksenja Marguč Kirn   +2 more
doaj  

Acute quadriparesis revealing Gitelman syndrome: a case report. [PDF]

open access: yesAnn Med Surg (Lond)
Chandani HK   +5 more
europepmc   +1 more source

A case analysis of Gitelman syndrome complicated with Sjögren's disease. [PDF]

open access: yesFront Med (Lausanne)
Tang Y, Tian S, Xia C, Zhang Y, Dai Q.
europepmc   +1 more source

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