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: Ze-Min Kuang, Ying Wang, Jia-Jie Wang, Jing-Hua Liu, Rong Zeng, Qi Zhou, Zhen-Qiu Yu, Long Jiang
• Journal: Journal of the American Society of Hypertension : JASH (J Am Soc Hypertens) Vol. 11 Issue 3 Pg. 136-139 (03 2017) ISSN: 1878-7436 [Electronic] United States
• PMID: 28236585 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2017 American Society of Hypertension. Published by Elsevier Inc. All rights reserved.

Chemical References

• Antihypertensive Agents
• Epithelial Sodium Channels
• SCNN1B protein, human
• SCNN1G protein, human
• Aldosterone
• 11-beta-Hydroxysteroid Dehydrogenases
• Renin
• Potassium
• Hydrocortisone

Topics

• 11-beta-Hydroxysteroid Dehydrogenases (blood, deficiency)
• 46, XX Disorders of Sex Development (blood, diagnosis)
• Adolescent
• Adrenal Gland Neoplasms (blood, diagnosis)
• Adrenal Glands (diagnostic imaging)
• Aldosterone (blood)
• Antihypertensive Agents (therapeutic use)
• Coronary Vasospasm (blood, drug therapy, genetics)
• Cushing Syndrome (blood, diagnosis)
• DNA Mutational Analysis
• Diagnosis, Differential
• Epithelial Sodium Channels (genetics)
• Genetic Counseling
• Hirsutism (blood, congenital, diagnosis)
• Humans
• Hydrocortisone (blood)
• Hypertension (blood, drug therapy, genetics)
• Hypokalemia (blood, genetics)
• Liddle Syndrome (blood, diagnosis, genetics)
• Male
• Mothers
• Mutation, Missense
• Pedigree
• Pheochromocytoma (blood, diagnosis)
• Potassium (blood)
• Renal Artery Obstruction (diagnostic imaging)
• Renin (blood, metabolism)
• Steroid Metabolism, Inborn Errors (blood, diagnosis)
• Tomography, X-Ray Computed
• Ultrasonography, Doppler, Color