Premium
Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children
Author(s) -
Shen Qian,
Chen Jiemei,
Yu Minghui,
Lin Zhi,
Nan Xiaojuan,
Dong Beijun,
Fang Xiaoyan,
Chen Jing,
Ding Guixia,
Zhang Aihua,
Gao Chunlin,
Miao Li,
Xu Yuanyuan,
Jiang Xiaoyun,
Bai Haitao,
Zhuang Jieqiu,
Gao Xiaojie,
Xu Hong
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13913
Subject(s) - medicine , urinary calcium , gitelman syndrome , creatinine , compound heterozygosity , hypercalciuria , gastroenterology , urinary system , asymptomatic , cohort , genotype , endocrinology , pediatrics , allele , genetics , biology , gene , hypomagnesemia , magnesium , materials science , metallurgy
Based on the Chinese Children Genetic Kidney Disease Database (CCGKDD), we established a pediatric Gitelman syndrome (GS) cohort to explore the phenotype and genotype characteristics. Thirty‐two patients with SLC12A3 gene variants were collected. Five cases (16%) were homozygous, 16 (50%) were compound heterozygous, 10 (31%) carried only a single variant, and the other one harbored two de novo variants beyond classification. p.(T60M) was found in eight patients. The average diagnosis age was 7.79 ± 3.54 years. A total of 31% of the patients were asymptomatic. Muscle weakness was the most common symptom, accounting for 50%. Earlier age of onset (4.06 ± 1.17 yr vs. 8.10 ± 3.46 yr vs. 8.61 ± 3.56 yr, p < 0.05) and lower urinary calcium‐creatinine ratio ( p = 0.024) were found in the homozygous group than those in the heterozygous and compound heterozygous group. Patients with p.(T60M) variant had an earlier age of onset (4.01 ± 2.83 yr vs. 6.92 ± 3.07 yr, p = 0.025) and lower urinary calcium‐creatinine ratio ( p = 0.056). Thus, more than 30% of GS children have no clinical symptoms. Homozygous variant and the p.(T60M) variant may be associated with earlier onset and lower urinary calcium excretion in Chinese pediatric GS.