Adolescent Gitelman syndrome:a case report and literature review

VernacularTitle:青少年起病的Gitelman综合征1例并文献复习
Author: Linlu ZHENG ¹ ; Lifei ZHOU ; Pingping ZHANG ; Yaying CHENG ; Yali LI
Author Information

1. 河北省人民医院生殖遗传科，石家庄　050051
Keywords: Gitelman syndrome; hypokalemia; SLC12A3 gene
From: Clinical Medicine of China 2023;39(4):287-291
CountryChina
Language:Chinese
Abstract: Objective:To explore the clinical characteristics and genetics of a Chinese patient with Gitelman syndrome (GS) and improve the awareness and diagnosis of GS among clinicians.Methods:Retrospectively analyzed the GS patient's clinical feature, laboratory examination, diagnosis, treatment and literature review admitted to Hebei General Hospital in September 2022.Results:A twelve-year-old boy was admitted to our department due to weakness of lower limbs. Laboratory tests after admission showed hypokalemia, hypomagnesemia, hypocalcemia and metabolic alkalosis. Genetic testing showed tow compound heterozygous mutations in the SLC12A3 gene (c.1456G>A and c.634G>A), which ultimately diagnosed as GS. The patient is on the mend and allowed to leave the hospital after treated by potassium supplement.Conclusion:The rate of leak diagnosis is high. Genetic testing should be undergo earlier if the patients suspected GS.