Gitelman syndrome: novel mutation and long-term follow-up

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A13583" target="_blank" >RIV/00216208:11110/12:13583 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/12:13583

Result on the web

<a href="http://dx.doi.org/10.1007/s10157-011-0542-x" target="_blank" >http://dx.doi.org/10.1007/s10157-011-0542-x</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Gitelman syndrome: novel mutation and long-term follow-up

Original language description

We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years,the patient showed satisfactory growth and physical development.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FE - Other fields of internal medicine

OECD FORD branch

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Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinical and Experimental Nephrology

ISSN

1342-1751

e-ISSN

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Volume of the periodical

16

Issue of the periodical within the volume

2

Country of publishing house

JP - JAPAN

Number of pages

4

Pages from-to

306-309

UT code for WoS article

000303063000015

EID of the result in the Scopus database

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