Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We desc...

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Bibliographic Details
Main Authors: E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani
Format: Article
Language:English
Published: PAGEPress Publications 2020-04-01
Series:Reumatismo
Subjects:
Gitelman
chondrocalcinosis
tubulopathy
neuropathy.
Online Access:https://www.reumatismo.org/index.php/reuma/article/view/1255

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