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Abstract：
BACKGROUND: Liddle syndrome is an autosomal dominant hereditary disease caused by a single gene mutation. Typical clinical manifestations are early-onset hypertension and hypokalaemia and can be treated using ENaC blockers (amiloride and aminopterin).
METHODS: This report describes a 17-year-old male with hypertension and hypokalaemia. We performed a Captopril inhibition test and a postural stimulation test for the diagnosis and typing of primary aldosteronism.
RESULTS: The serum renin was low, and aldosterone was high, so the patient was initially misdiagnosed as primary aldosteronism. After a genetic analysis, a diagnosis of Liddle syndrome was made due to the presence of an SCNN1B p.Pro617Ser mutation. After diagnosis, the patient was administered one tablet of amiloride twice a day (each tablet contains 2.5mg of amiloride hydrochloride and 25mg of hydrochlorothiazide 25mg). The patient\'s blood pressure (average of 120-135/70-80mmHg) and serum potassium levels (3.6-4.0mmol/L) returned to normal and were well-controlled after treatment.
CONCLUSIONS: The patient is an atypical case of Liddle syndrome; genetic analysis is helpful and essential for diagnosis.
METHODS: This report describes a 17-year-old male with hypertension and hypokalaemia. We performed a Captopril inhibition test and a postural stimulation test for the diagnosis and typing of primary aldosteronism.
RESULTS: The serum renin was low, and aldosterone was high, so the patient was initially misdiagnosed as primary aldosteronism. After a genetic analysis, a diagnosis of Liddle syndrome was made due to the presence of an SCNN1B p.Pro617Ser mutation. After diagnosis, the patient was administered one tablet of amiloride twice a day (each tablet contains 2.5mg of amiloride hydrochloride and 25mg of hydrochlorothiazide 25mg). The patient\'s blood pressure (average of 120-135/70-80mmHg) and serum potassium levels (3.6-4.0mmol/L) returned to normal and were well-controlled after treatment.
CONCLUSIONS: The patient is an atypical case of Liddle syndrome; genetic analysis is helpful and essential for diagnosis.
摘要：
背景：Liddle综合征是一种由单基因突变引起的常染色体显性遗传性疾病。典型的临床表现是早发性高血压和低钾血症，可以使用ENaC受体阻滞剂（阿米洛利和氨基蝶呤）治疗。
方法：本报告描述了一名17岁男性，患有高血压和低钾血症。我们进行了卡托普利抑制试验和姿势刺激试验，以诊断和分型原发性醛固酮增多症。
结果：血清肾素水平较低，醛固酮很高，因此该患者最初被误诊为原发性醛固酮增多症。经过基因分析,Liddle综合征的诊断是由于存在SCNN1Bp.Pro617Ser突变.诊断后,患者每天两次给予阿米洛利1片(每片含2.5mg盐酸阿米洛利和25mg氢氯噻嗪).治疗后患者血压(平均120~135/70~80mmHg)、血钾水平(3.6~4.0mmol/L)恢复正常,控制良好。
结论：该患者是Liddle综合征的不典型病例；基因分析对诊断有帮助和必要。
方法：本报告描述了一名17岁男性，患有高血压和低钾血症。我们进行了卡托普利抑制试验和姿势刺激试验，以诊断和分型原发性醛固酮增多症。
结果：血清肾素水平较低，醛固酮很高，因此该患者最初被误诊为原发性醛固酮增多症。经过基因分析,Liddle综合征的诊断是由于存在SCNN1Bp.Pro617Ser突变.诊断后,患者每天两次给予阿米洛利1片(每片含2.5mg盐酸阿米洛利和25mg氢氯噻嗪).治疗后患者血压(平均120~135/70~80mmHg)、血钾水平(3.6~4.0mmol/L)恢复正常,控制良好。
结论：该患者是Liddle综合征的不典型病例；基因分析对诊断有帮助和必要。
