Analysis Of The Clinical Characteristics And Genetic Diagnosis Of A Patient With Gitelman Syndrome Phenotype

Objective:A patient presenting Gitelman syndrome(GS) phenotype,including hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnezemia and secondary high level of renin-angiotensin-aldosterone activity, was found in our clinical practice.Other diseases and drug factors,such as diuretic drugs,hyperthyroidism, diarrhea,sjogren syndrome were excluded.To clarify the relation between clinical manifestations and SLC12A3 gene of this patient,we analyzed the clinical characteristics,and sequenced all 26 exons of SLC12A3 gene.Methods: Clinical characteristics including clinical presentations,laboratory examination and imageological examination were got and peripheral blood samples of this patient were collected. Genomic DNA was extracted with a Blood DNA Kit.Primers of all 26 exons of SLC12A3 gene were designed and synthesized.All of exons were amplified by polymerase chain reaction(PCR) and then identified by direct sequencing.Results: Clinical presentations and laboratory test results of this patient were consist with GS. No mutation with clinical significancewas detected from the 26 exons of SLC12A3.Conclusion : GS phenotype,such as hypokalemia, metabolic alkalosis,hypocalciuria and hypomagnezemia,is not necessarily caused by exon mutation of SLC12A3.Exon rearrangement,intron mutation and CLCNKB mutation which caused Bartter syndrome(BS) could all present a GS phenotype.The relation between genotype and phenotype of GS is still not very clear.