Bustos-Merlo A, Rosales-Castillo A, Jaén-Águila F
Servicio de Medicina Interna, Hospital Universitario Virgen de las Nieves, Granada, España.
Servicio de Medicina Interna, Hospital Universitario Virgen de las Nieves, Granada, España.
Hipertens Riesgo Vasc. 2022 Jul-Sep;39(3):135-137. doi: 10.1016/j.hipert.2022.04.002. Epub 2022 May 31.
Multiple diagnostic entities are included among the causes of secondary arterial hypertension, so an appropriate screening is essential to diagnose potentially treatable pathologies. Genetic syndromes occupy a small percentage of these causes. The latter group includes Liddle syndrome, a rare genetic disease with autosomal dominant inheritance, caused by gain-of-function mutations in the genes that code for the epithelial sodium channel (ENaC), involved in sodium reabsorption in the distal renal tubules. The presence of a family history of arterial hypertension with onset at an early age and hypokalemia in some of them should lead to the suspicion of this genetic disorder, which must be confirmed with genetic tests. We describe a case, genetically confirmed, in which hypertension refractory to conventional treatment is the only manifestation of said syndrome, making diagnosis difficult and delayed until adulthood.
继发性动脉高血压的病因包括多种诊断实体，因此进行适当的筛查对于诊断潜在可治疗的病症至关重要。遗传综合征在这些病因中占比很小。后一组包括利德尔综合征，这是一种罕见的常染色体显性遗传疾病，由编码上皮钠通道（ENaC）的基因功能获得性突变引起，该通道参与远端肾小管的钠重吸收。如果存在早年发病的动脉高血压家族史且部分患者伴有低钾血症，应怀疑这种遗传疾病，必须通过基因检测来确诊。我们描述了一例经基因确诊的病例，其中常规治疗难以控制的高血压是该综合征的唯一表现，这使得诊断困难并延迟至成年期。
