LAUSR

Objectives: To explore the correlation between genotype and phenotype through analyzing the clinical manifestation and the gene mutation in the KCNJ 5 of patients with PA. Methods: a total of 10 UAH, 18 APA and their clinical characteristics were collected from Hypertension Center of People's Hospital of Xinjiang Autonomous Region from 2011.01 to 2015.12, and all of them were sequencing by pathology. All the samples of the coding region segments of KCNJ5 were detected to analyze the genotype. Results: The Systolic blood pressure, ARR of patients with G151 were significant greater than patients with L168 or S209, the serum potassium was significant lower than patients with L168 or S209. The left ventricular end-diastolic dimension, left ventricular posterior wall thickness, LVM of patients with G151 were higher than the other mutations, the ejection fraction of G151 was lower than the others, although there are no significant difference. But the left ventricular end-diastolic dimension, LVM in APA patients with G151 were higher than the other mutations, and were significant greater than patients with L168. Conclusion: The PA patients with different KCNJ5 mutant maybe have different target organ damage, patients with G151 were worse than patients with L168 or S209.