Rare monogenic cause of arterial hypertension

Abstract

Secondary arterial hypertension is characterized by a diverse range of etiological factors, making the clarification of its underlying causes a fundamental aspect of both diagnosis and treatment. Accurate identification of the etiology of hypertension directly influences therapeutic strategies and has significant implications for patient prognosis. In certain instances, molecular genetic testing may be necessary to pinpoint the specific etiological factor with greater precision. Among the rare but noteworthy causes of secondary arterial hypertension is pseudohypoaldosteronism, which can often remain undiagnosed for prolonged periods or be misclassified as primary hypertension. This article presents the clinical case of a 15-year-old female patient diagnosed with type IIE pseudohypoaldosteronism, emphasizing the critical role of differential diagnosis in managing arterial hypertension in pediatric and adolescent populations. We will explore the principal clinical manifestations of the condition, as well as the laboratory, instrumental, and molecular genetic findings that facilitated the accurate diagnosis and optimization of treatment for this patient.