I형 급성형 고타이로신혈증 2례부산대학교 의과대학 소아과학교실김규태·김영미·박수은·남상욱·박재홍 = Two Cases of Acute Form of Tyrosinemia Type I

다국어 초록 (Multilingual Abstract)

Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine. The disease is characterized by hepatic dysfunction, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. We experienced 2 cases(a 4-day-old girl, a 7- month-old girl) of acute form of tyrosinemia type I. Case 1 was presented with tachypnea, vomiting and prolonged PT and aPTT. Case 2 was presented with systemic jaundice, irritability, an odor resembling boiled cabbage, and hepatic dysfunction. The diagnosis was made by demonstrating elevated plasma levels of tyrsione and other amino acids, and urinary excretion of succinylacetone. Both of the patients had a significant coagulopathy which was not treated by transfusion of fresh frozen plasma and cryoprecipitate. We report two tyrosinemic infants who were presented with severe coagulopathy.

국문 초록 (Abstract)

저자들은 생후 3일경에 구토와 활동 저하를 주소로 내원하여 I형 고타이로신혈증으로 진단받고 생후 6개월경에 간부전으로 사망한 1례와, 생후 7개월경에 1개월간 지속되는 황달을 주소로 내원하여 I형 고타이로신혈증으로 진단 받고 역시 간부전으로 사명한 1례 등, I형 급성형 고타이로신헐증 2례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.