Pseudohypoaldosteronism Presenting as Acute Gastroenteritis: Report of One Case

以急性腸胃炎表現之假性醛固酮缺乏症：一病例報告

餘美靜(Mei-Ching Yu) ； 侯家瑋(Jia-Woei Hou)

《Acta Paediatrica Taiwanica》 44卷1期 (2003/02) Pp. 44-46

https://doi.org/10.7097/APT.200302.0044

摘要

假性醛固酮缺乏症是一種對醛固酮有拮抗性反應的疾病，目前認爲和醛固酮的接受體或相關傳遞蛋白發生變異有關。
我們報告一位42天大的男嬰臨床上表現嘔吐，腹瀉，脫水和生長遲滯。經過適當治療和水分補充，臨床腸胃症狀很快獲得緩解。但實驗室檢查却發現持續性代謝性酸中毒，電解質失調包括低血鈉，高血鉀，低血氯和大量鈉離子由尿液中流失。進一步的檢查更發現，皮質酮，腎活素，醛固酮，親腎上腺皮質素和17-氫氧基黃體酮均上升。除此之外，這位男嬰幷未表現出高血壓，外生殖器過度男性化或色素沉澱的情况，血清睪固酮濃度也沒增高。結論：診斷此病患爲第一型假性醛固酮缺乏症，給予適當口服食臨水補充，男嬰臨床反應良好。門診追踪亦發現臨床表現有隨年齡改善的趨勢，整體預後佳。

關鍵字

假性醛固酮缺乏症 ； 腸胃炎 ； 醛固酮

並列摘要

Pseudohypoaldosteronism type I, a disorder of mineralocorticoid resistance, usually presents with excessive renal sodium wasting and subsequent poor growth. We report a 1-month -old male baby who suffered from recurrent vomiting, diarrhea and dehydration. Biochemical investigations showed hyponatremia, hyperkalemia, hypochloremia, metabolic acidosis and large amount of urinary sodium excretion. Owing to persistent electrolyte abnormalities and renal salt loss, hormone studies were done and revealed elevated concentrations of cortisol, adrenocorticotropic hormone, aldosterone, renin and 17-hydroxyprogesterone. Blood pressure and plasma sugar were normal. The external genitalia were normal without hyperpigmentation. The laboratory data coupled with clinical presentations suggested pseudohypoaldosteronism type I. Aggressive sodium replacement and fluid therapy were started, with good response.

並列關鍵字

pseudohypoaldosteronism type I ； gastroenteritis ； mineralocorticoid