title: The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia.
abstract: Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel blockers but not spironolactone therapy. Here, we describe the case of a 16-year-old boy patient with resistant hypertension (maintain 170-180/100-110 mm Hg after administration four kinds of antiypertensive drugs) and severe hypokalemia. After a series of checks, we exclude primary aldosteronism and renal artery stenosis and other diseases. Finally, the Liddle syndrome was diagnosed because of the DNA sequencing found that the proband's mother and himself had mutations P616L (c.1847 C>T) in the SCNN1B gene. Liddle syndrome should be considered as a cause of hypertension in children or adolescents particularly with suppressed renin activity. Early diagnosis and appropriately tailored treatment avoid complications of long-term unrecognized or inappropriately managed hypertension. Genetic testing has made it possible to make accurate diagnoses and develop tailored therapies for mutation carriers. The role of genetic testing and genetic counseling in establishing the early diagnosis of Liddle's syndrome is important.
authors.affiliation: Department of Hypertension, Beijing Anzhen Hospital of Capital Medical University, Beijing, China.
authors.forename: Ze-Min
authors.initials: ZM
authors.lastname: Kuang
authors.affiliation: Department of Cardiology, The Chenzhou City First People's Hospital Affiliated to University of South China, Chenzhou, Hunan, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Cardiology, The Second Clinical Hospital Affiliated to University of South China, Hengyang, Hunan, China.
authors.forename: Jia-Jie
authors.initials: JJ
authors.lastname: Wang
authors.affiliation: Department of Hypertension, Beijing Anzhen Hospital of Capital Medical University, Beijing, China.
authors.forename: Jing-Hua
authors.initials: JH
authors.lastname: Liu
authors.affiliation: Department of Hypertension, Beijing Anzhen Hospital of Capital Medical University, Beijing, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Zeng
authors.affiliation: Department of Hypertension, Beijing Anzhen Hospital of Capital Medical University, Beijing, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Department of Hypertension, Beijing Anzhen Hospital of Capital Medical University, Beijing, China.
authors.forename: Zhen-Qiu
authors.initials: ZQ
authors.lastname: Yu
authors.affiliation: Department of Cardiovascular, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China. Electronic address: skyiadx@hotmail.com.
authors.forename: Long
authors.initials: L
authors.lastname: Jiang
mesh_terms: D042842:11-beta-Hydroxysteroid Dehydrogenases / Q000097:blood / Q000172:deficiency; D058489:46, XX Disorders of Sex Development / Q000097:blood / Q000175:diagnosis; D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000097:blood / Q000175:diagnosis; D000311:Adrenal Glands / Q000000981:diagnostic imaging; D000450:Aldosterone / Q000097:blood; D000959:Antihypertensive Agents / Q000627:therapeutic use; D003329:Coronary Vasospasm / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D003480:Cushing Syndrome / Q000097:blood / Q000175:diagnosis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D053503:Epithelial Sodium Channels / Q000235:genetics; D005817:Genetic Counseling; D006628:Hirsutism / Q000097:blood / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006973:Hypertension / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D007008:Hypokalemia / Q000097:blood / Q000235:genetics*; D056929:Liddle Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009035:Mothers; D020125:Mutation, Missense; D010375:Pedigree; D010673:Pheochromocytoma / Q000097:blood / Q000175:diagnosis; D011188:Potassium / Q000097:blood; D012078:Renal Artery Obstruction / Q000000981:diagnostic imaging; D012083:Renin / Q000097:blood / Q000378:metabolism; D043202:Steroid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D018615:Ultrasonography, Doppler, Color
chemical_list: D000959:Antihypertensive Agents; D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human; C507052:SCNN1G protein, human; D000450:Aldosterone; D042842:11-beta-Hydroxysteroid Dehydrogenases; D012083:Renin; D011188:Potassium; D006854:Hydrocortisone
keywords: Genetic diagnosis; Liddle's syndrome; precision medical