Pseudohypoaldosteronism type II

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  • Kumagai Naonori
    Department of Pediatrics, Tohoku University Graduate School of Medicine

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  • 偽性低アルドステロン症II 型

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Pseudohypoaldosteronism type II (PHA II) is a rare autosomal dominant inheritance syndrome characterized by hypertension, hyperkalemia, and high chloride metabolic acidosis. Short stature, malformation of tooth and bone, and developmental and growth delay are occasional complications associated with this syndrome. It is often associated with mutations in WNK4 and WNK1, resulting in increased Na+Cl– reabsorption via thiazide-sensitive Na+Cl– co-transporters and decreased potassium excretion. In 2012, it was discovered that mutations in kelch-like 3 (KLHL3) and cullin 3 (CUL3) cause PHAII. Here, we describe the neonatal case of PHAII caused by KLHL3 gene mutation experienced in our hospital and review the current pathophysiological findings of PHAII.

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