[Familial hyperkalemic hypertension - a case report with patients in three generations].

Abstract

Recent advancements in sequencing technologies have enabled both the identification of many monogenic diseases and the development of precision medicine, enabling tailored therapies for many patients. This case presentation describes four patients across three generations diagnosed with hyperkalemia of unclear origin. Genetic testing revealed a pathogenic variant in the KLHL3 gene, linked to familial hyperkalemic hypertension. Treatment with hydrochlorothiazide essentially normalised the potassium levels for all patients, and the oldest patient, with a resistant hypertension since a young age, had a dramatic improvement in blood pressure. This case underscores the importance of a detailed family history combined with genetic testing, which can lead to tailored and effective treatments.