title: Liddle syndrome: clinical and genetic profiles.
abstract: Liddle syndrome is a rare autosomal dominant monogenic form of hypertension. The authors analyzed clinical and genetic features of 12 cases of Liddle syndrome, the largest sample size ever reported. Clinical data were studied retrospectively. The exon 13 of the β and γ subunits of the epithelial sodium channel were amplified and sequenced in the peripheral blood leukocytes of the patients. The onset age of the 12 patients was 15.5±3.3 years. Their blood pressures were poorly controlled, and serum potassium levels in most patients were <3.0 mmol/L. Upright plasma renin activity and plasma aldosterone concentration were suppressed in all patients. All patients were treated with triamterene, and blood pressures were well controlled and serum potassium levels returned to normal. The serum creatinine level rose to 124 and 161 μmol/L, respectively, in two patients upon triamterene treatment, and returned to normal soon after treatment was discontinued. Eight mutation alleles were identified, and three mutations were newly identified.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yunying
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Anli
authors.initials: A
authors.lastname: Tong
authors.affiliation: The Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Jiang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Fen
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000450:Aldosterone / Q000097:blood; D000483:Alleles; D002648:Child; D002681:China / Q000453:epidemiology; D003404:Creatinine / Q000097:blood; D062686:Epithelial Sodium Channel Blockers / Q000008:administration & dosage / Q000627:therapeutic use; D053503:Epithelial Sodium Channels / Q000187:drug effects / Q000235:genetics*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000150:complications* / Q000453:epidemiology; D007008:Hypokalemia / Q000150:complications* / Q000453:epidemiology; D056929:Liddle Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D011188:Potassium / Q000097:blood; D012083:Renin / Q000097:blood; D012189:Retrospective Studies; D014223:Triamterene / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D062686:Epithelial Sodium Channel Blockers; D053503:Epithelial Sodium Channels; D000450:Aldosterone; D003404:Creatinine; D012083:Renin; D011188:Potassium; D014223:Triamterene
keywords: Liddle syndrome; clinical features; epithelial sodium channel; gene mutation