영아기 이후 진단 된 1형 가성 저알도스테론증 1례 = A Case of Pseudohypoaldosteronism Type I Diagnosed after Infancy

국문 초록 (Abstract)

1형 가성 저알도스테론증은 신생아기에 염분소실 및 탈수를 유발하는 질환으로, 경구 염분 투여만으로도 증상이 호전되나, 적절한 치료가 이루어지지 않을 경우 심각한 탈수 및 사망을 초래할 수 있는 질환이다. 저자들은 반복적으로 구토 및 발한 증상과 함께 저나트륨혈증, 고칼륨혈증 및 대사성 산혈증을 보이며 혈장레닌활성도 및 혈중 알도스테론 수치의 상승이 동반되었던 생후 19개월 환아에서 1형 가성 저알도스테론증 진단 후 경구 탄산수소나트륨 투여로 증상이 호전되었던 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

다국어 초록 (Multilingual Abstract)

Pseudohypoaldosteronism (PHA) typeⅠ 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 typeⅠat 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.

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