Liddle’s syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene
| Autor: | Freercks, Robert, Ensor, Jason, Weimers-Willard, Clarise, Meldau, Surita, Jones, Erika, Rayner, Brian |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Epithelial sodium channel
low renin Male medicine.medical_specialty hypertension amiloride Adolescent Hypokalemia 030204 cardiovascular system & hematology Liddle’s Frameshift mutation Pathogenesis 03 medical and health sciences South Africa 0302 clinical medicine Liddle Syndrome Internal medicine Renin–angiotensin system medicine Humans Liddle's syndrome Epithelial Sodium Channels Frameshift Mutation 030219 obstetrics & reproductive medicine Case Study business.industry Sodium resistant hypertension General Medicine hypokalaemia medicine.disease Amiloride Pedigree Endocrinology Africa medicine.symptom Cardiology and Cardiovascular Medicine business medicine.drug |
| Zdroj: | Cardiovascular Journal of Africa |
| ISSN: | 1680-0745 1995-1892 |
| Popis: | Summary 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 cuntry. Specific therapy such as amiloride should be made more widely available. |
| Databáze: | OpenAIRE |
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