Zimmermann A, Bachmann C, Baumgartner R
Arch Pathol Lab Med. 1986 Feb;110(2):136-40.
Hepatomegaly is an important clinical finding in patients with argininosuccinic aciduria (a hereditary defect of the urea cycle enzyme, argininosuccinate lyase [argininosuccinase]). A severe degree of liver fibrosis, almost corresponding to cirrhosis, was observed in liver biopsy material obtained from a boy with this disorder. This observation is of interest in light of the fact that liver fibrosis or cirrhosis are hallmarks of many inheritable phenotypes, and especially of inborn errors of metabolism. Variable degrees of liver fibrosis are noted in other inborn defects of the urea cycle, eg, in ornithine transcarbamylase and carbamoylphosphate synthetase deficiencies. These findings appear to indicate that inheritable defects of urea synthesis may form a group of metabolic disorders prone to cause hepatic fibrosis, or even cirrhosis, as shown in our patient.
肝肿大是精氨琥珀酸尿症（尿素循环酶精氨琥珀酸裂解酶[精氨琥珀酸酶]的一种遗传性缺陷）患者的一项重要临床发现。在一名患有该疾病的男孩的肝脏活检材料中观察到了严重程度的肝纤维化，几乎等同于肝硬化。鉴于肝纤维化或肝硬化是许多可遗传表型的特征，尤其是先天性代谢缺陷的特征，这一观察结果很有意思。在尿素循环的其他先天性缺陷中也发现了不同程度的肝纤维化，例如鸟氨酸转氨甲酰酶和氨甲酰磷酸合成酶缺乏症。这些发现似乎表明，如我们的患者所示，尿素合成的可遗传缺陷可能构成一组易于导致肝纤维化甚至肝硬化的代谢紊乱。
