Freercks Robert, Meldau Surita, Jones Erika, Ensor Jason, Weimers-Willard Clarise, Rayner Brian
Division of Nephrology and Hypertension, Livingstone Hospital, Port Elizabeth, South Africa; Department of Medicine, Division of Nephrology and Hypertension, University of Cape Town, Cape Town, South Africa. Email:
Division of Chemical Pathology, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.
Cardiovasc J Afr. 2017 Sep 23;28(4):e4-e6. doi: 10.5830/CVJA-2017-012.
Resistant hypertension is a common clinical problem in South Africa and is frequently associated with low renin and aldosterone levels, especially in black Africans. In South Africa, novel variants in the epithelial sodium channel (ENaC) have been described to be associated with varying degrees of hypokalaemia and hypertension due to primary sodium retention. We report here a case of Liddle's syndrome due to a novel c.1709del11 (p.Ser570Tyrfs*20) deletion in the beta-subunit of the ENaC in a young black African male. We discuss the likely pathogenesis of hypertension in this setting as well as the treatment options available in South Africa aimed at the ENaC. This case highlights the need for vigilance in detecting and appropriately treating low-renin and low-aldosterone hypertension in view of the frequency of the described variants of the ENaC channel in our country. Specific therapy such as amiloride should be made more widely available.
难治性高血压在南非是一个常见的临床问题，并且经常与低肾素和醛固酮水平相关，尤其是在非洲黑人中。在南非，上皮钠通道（ENaC）的新型变异体已被描述与因原发性钠潴留导致的不同程度的低钾血症和高血压有关。我们在此报告一例年轻非洲黑人男性因ENaCβ亚基中出现新型c.1709del11（p.Ser570Tyrfs*20）缺失而导致的利德尔综合征。我们讨论了这种情况下高血压可能的发病机制以及南非针对ENaC的可用治疗选择。鉴于我国ENaC通道所述变异体的发生率，该病例突出了在检测和适当治疗低肾素和低醛固酮性高血压方面保持警惕的必要性。应更广泛地提供诸如氨氯吡咪之类的特异性治疗方法。
