Klujber V, Sallai A, Kálmánchey R, Szönyi L, Hosszú E
Semmelweis Orvostudományi Egyetem, Budapest, II. Gyermekklinika.
Orv Hetil. 1997 Jul 13;138(28):1805-8.
The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.
作者报告了1例1型酪氨酸血症病例，诊断时为3岁女童。其呈现的症状为3次腹痛、便秘、急性脑病、高血压、低钠血症，符合卟啉危象。她在患病期间肾功能检查结果正常，仅1次观察到钙周转率增加。她没有佝偻病迹象。由于γ-谷氨酰转移酶（γGT）和甲胎蛋白水平逐渐升高，活检证实有肝硬化。在一项国际合作中开始了一种新型酶阻断剂（NTBC）治疗。作者将该病例的病史与文献中发表的其他病例进行了比较。他们总结了该疾病的发病机制。
