scholarly journals Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Xueting Li ◽  
Ruofei Chen ◽  
Mingwei Chen
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Gene Mutation Analysis

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword “Gitelman syndrome” was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.

scholarly journals SUN-LB133 Analysis of Clinical Characteristics and Gene Mutation in Four Cases of Gitelman Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Bin Yao
Keyword(s):  
Gene Mutation ◽  
Metabolic Alkalosis ◽  
Clinical Characteristics ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Slc12a3 Gene ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Abstract Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by renal salt wasting with secondary hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria. GS was found to be caused by mutations in SLC12A3 encoding the thiazide-sensitive sodium chloride cotransporter (NCCT) on the apical membrane of distal convoluted tubule. The prevalence worldwide is estimated at approximately 1:40,000, making it one of the most frequent inherited renal tubular disorders. To date, over 400 mutations scattered throughout SLC12A3 have been identified in GS patients. The majority of patients are compound heterozygous for SLC12A3 mutations, but a significant number of GS patients are found to carry only a single SLC12A3 mutation. The type of the SLC12A3 mutation may be a determinant factor in the severity of GS. The purpose of this study is to analyze clinical characteristics and gene mutation in four cases of GS. Methods: Four patients with closely resembling Gitelman syndrome was selected. Results: Six SLCl2A3 gene mutations were found in these four patients. There were one SLCl2A3 homozygous mutation in case 1 and case 3, and two SLCl2A3 heterozygous mutations in case 2 and case 4, respectively. This six gene mutations include missense mutations, frameshift mutations, and nonsense mutations. Four patients were diagnosed with Gitelman syndrome. Case 4 is the most severe with severe hypokalemia, accompanied by ventricular arrhythmias, which may be related to the presence of two SLC12A3 gene mutations in the patient. Conclusions: Four patients in this study were diagnosed with Gitelman syndrome based on their clinical characteristics and genetic testing results. For patients with hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria need to exclude Gitelman syndrome. Key words: Gitelmen Syndrome, Mutations, SlC12A3 gene

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease

2020 ◽  
Vol 63 (12) ◽  
pp. 103997
Author(s):  
Xueying Su ◽  
Huiying Sheng ◽  
yonglan huang ◽  
Xiuzhen Li ◽  
Wen Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Pompe Disease ◽  
Chinese Patients ◽  
Infantile Pompe Disease ◽  
Gene Mutation Analysis ◽  
Gaa Gene

scholarly journals Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy

2017 ◽  
Vol 91 (5) ◽  
pp. 717-724 ◽  
Author(s):  
Q. Zhang ◽  
J. Li ◽  
Y. Zhao ◽  
X. Bao ◽  
L. Wei ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Chinese Patients ◽  
Gene Mutation Analysis
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