Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children,Clinical Genetics

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Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-12-31 , DOI: 10.1111/cge.13913
Qian Shen ₁ , Jiemei Chen _{2,

3} , Minghui Yu ₁ , Zhi Lin _{3,

4} , Xiaojuan Nan ₂ , Beijun Dong ₂ , Xiaoyan Fang ₁ , Jing Chen ₁ , Guixia Ding ₅ , Aihua Zhang ₅ , Chunlin Gao ₆ , Li Miao ₇ , Yuanyuan Xu ₈ , Xiaoyun Jiang ₈ , Haitao Bai ₉ , Jieqiu Zhuang ₁₀ , Xiaojie Gao ₂ , Hong Xu ₁ ,

Affiliation

Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.
Department of Nephrology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
International Pediatric Nephrology Association (IPNA) fellow at Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Department of Pediatrics, Jinling Hospital, Nanjing, China.
Department of Pediatrics, The First Affiliated Hospital of Kangda College of Nanjing Medical University/The First People's Hospital of Lianyungang, Lianyungang, China.
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Department of Pediatrics, The First Affiliated Hospital of Xiamen University, Xiamen, China.
Department of Nephrology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China.

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.

更新日期：2021-03-05

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