新生兒假性醛固酮低下症之罕見案例報告

A Rare Case Report of Pseudohypoaldosteronism in a Neonate

本案例報告一位12天大女嬰，因延遲性黃疸合併危急性高血鉀低血鈉住院，從臨床診斷、治療到復原的過程。住院期間黃疸於接受照光、輸液補充治療，持續性高血鉀、低血鈉徵象未見改善，也潛藏心律不整猝死危機。經過身體評估，未見外生殖器有陰蒂肥大、皮膚無黑色素沈著樣貌，配合新生兒篩檢項目的17-OHP（17-hydroxyprogesterone）報告未有異常，假性醛固酮低下症，終而確立診斷。經過適當口服mineralocorticoid藥物治療與鹽份補充，體重與危急性的高血鉀、低血鈉徵象獲得改善。當新生兒呈現無法解釋的持續性黃疸、不佳的體重增長、電解質不平衡、以及脫水徵象，假性醛固酮低下症，就必須列入考慮之中。盼藉由此罕見案例報告，分享照護過程與經驗，作為日後照護此類兒科罕見案例之參考，進而正確診斷與把握有效治療的黃金時間。

This case report is about a 12-day-old female neonate hospitalized for prolonged jaundice with acute hyperkalemia and hyponatremia from diagnosis to recovery. During hospitalization, her jaundice got improved after treatment, but hyperkalemia and hyponatremia still endured after intravenous rehydration therapy, with potential risk of sudden death from arrhythmias. The results of physical examination showed no external genital clitoris hypertrophy or dermal pigmentation. The result of 17-hydroxyprogesterone(17-OHP) test from the neonatal screening program was normal. The neonate was diagnosed with pseudohypoaldosteronism (PHA) and showed weight gain and recovered from hyperkalemia and hyponatremia after treated with oral mineralocorticoid and sodium replacement. The diagnosis of PHA should be considered while a neonate showed unexplained prolonged jaundice, unhealthy weight gain, electrolyte imbalance and dehydration. This case report is to share our experience in managing PHA and to server as a reference for caring pediatrics rare cases in order to reach timely diagnosis and treatment.