ABSTRACT
Objective To study the clinical and genetic profile of the patients with Gitelman syndrome ( GS ) . Methods We retrospectively analyzed the gene mutation and clinical character of 64 GS patients diagnosed in Pe-king Union Medical College Hospital from 2012 to 2016 .Results The age at diagnosis of these 64 patients ( 39 male,25 female) were (35±14) years.At admission, the serum potassium level of the patients was (2.86± 0.44) mmol/L, serum magnesium level was ( 0.62 ±0.14 ) mmol/L, 24-hour urine potassium was ( 82.27 ± 39.73)mmol/day, 24-hour urine calcium was (0.94±0.83)mmol/day and their average blood pressure was 110/69 mmHg.The gene mutation were divided into four groups including homozygous mutation ( n=5) , compound het-erozygous mutation(n=40), multiple mutations (n=9) and single heterozygous mutation (n=10) group.The compound heterozygous group had higher serum potassium concentration ( P<0.05 ) and the homozygous group had a relatively higher serum magnesium concentration but without significance .A total of 74 distinctly different mutation alleles were identified , of which 24 were new mutation alleles .p.Asp486Asn was a hotspot in our series which was found in 16 patients ( 25.0%) .Conclusions There exists great heterogeneity of gene mutation and clini-cal character in Gitelman syndrome .Patients with compound heterozygous have a relatively milder clinical character.p.Asp486Asn mutation is a hotspot in Chinese patients .