Advance in genetic research on Gitelman syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 205-208, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-781264
ABSTRACT
With an estimated incidence of 1/40 000 to 1/4000, Gitelman syndrome is the most common type of inherited renal tubular disease during adolescence or adulthood. Characteristic features of Gitelman syndrome include transient episodes of muscle cramps and fatigue, hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Detection of SLC12A3 mutations, in conjunct with clinical manifestations, may confirm the diagnosis. Recent research suggested that CLCNKB may also be a candidate gene for Gitelman syndrome. Research on genotype-phenotype correlation has provided more information on the genetic etiology of Gitelman syndrome, which may facilitate the diagnosis and treatment for this syndrome and improve their prognosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Prognostic study
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
Similar
MEDLINE
...
LILACS
LIS