Journal of Korean Society of Pediatric Endocrinology  2007;12(1):82-86

A Case of Pseudohypoaldosteronism Type l Diagnosed after Infancy.

Seung Beom HAN 1 ; Chang Hwan LIM ; Kyung Yeon LEE ; Jung Sue KIM ; Woong Heum KIM ; Meeryung UHM

Affiliations

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Keywords

Pseudohypoaldosteronism

Country

Republic of Korea

Language

Korean

Abstract

Pseudohypoaldosteronism (PHA) type l is a rare neonatal disease characterized by salt wasting, dehydration, hyperkalemia and metabolic acidosis. It is unresponsive to mineralocorticoid treatment with elevated aldosterone concentration. The three different modes of inheritance has been described. The autosomal dominant form has a mild clinical course and gradually improves with age. In this form, resistance to aldosterone seems to be restricted to the kidney. The autosomal recessive form displays generalized aldosterone resistance including kidney, colon, lung, sweat and salivary gland system. This form is more severe and requires life-long supplement with high-dose salt. The sporadic form is mild and resembles the autosomal dominant form. In this paper, we describe a male patient diagnosed as PHA type l at the age of 19 months. He presented with recurrent vomiting, diaphoresis accompanying hyponatremia, hyperkalemia, metabolic acidosis, elevated plasma renin activity and aldosterone level. Ultimately he has improved with treatment by oral sodium bicarbonate.