A case of Pseudohypoaldosteronism Type II

Abstract

Gordon syndrome, also known as pseudohypoaldosteronism type II (PHA II), is an uncommon renal tubular disorder characterized by hyperkalemia, acidosis, low plasma renin levels, and hypertension. It is often associated with genetic mutations in WNK1, WNK4, CUL3, and KLHL3 genes. This case report presents a 28-day-old male neonate with symptoms including milky urine, elevated renal parameters, and hyperkalemia. Despite normal sodium levels and mild metabolic acidosis, the patient exhibited elevated serum aldosterone and decreased plasma renin activity. Symptomatic treatment with IV fluids and hyperkalemia correction, followed by Hydrochlorthiazide, led to stabilization and symptom improvement. This case underscores the importance of early diagnosis and intervention in PHA II to prevent long-term renal complications. Understanding the genetic underpinnings of PHA II, especially the roles of WNK and CUL3/KLHL3 mutations, is crucial for managing this rare disorder.