Lovisetto P, Raviolo P
Istituto di Medicina Interna, Università, Torino.
Recenti Prog Med. 1994 Feb;85(2):134-41.
Peroxisomes or microbodies are peculiar subcellular organelles with an important role in the metabolism of a variety of different organic compounds. Particularly they are an important site of bile acids synthesis. Some hepatic diseases, mainly cholestatic, can to be reconnected at disorders of bile acids synthesis by these organelles. From the biochemical point some diseases present alterations of the cholesterol side chain (Zellweger syndrome, pseudo-Zellweger syndrome, infantile Refsum's disease, neonatal adrenoleukodystrophy), other diseases present errors involving the steroid nucleus (familial giant cell hepatitis). Zellweger disease or cerebro-hepato-renal syndrome is characterized clinically by skeletal changes, muscle hypotonia, renal cysts, psychosomatic retardation and persistent cholestasis and from the ultrastructural standpoint by the virtual absence of liver cell peroxisomes. Pseudo-Zellweger disease shows many of the clinical features of Zellweger disease but differs from this condition on account of the presence of abundant peroxisomes in the liver cells. Infantile Refsum's disease and neonatal adrenoleukodystrophy show typical clinical disorders and liver damage leading to cirrhosis. "Familial giant cell hepatitis" is characterized by jaundice from the first days of life, hepatosplenomegaly, cholestasis, lack of physical malformations. The disorder is due to defective biosynthesis of the bile acids with formation of allo-bile acids.
过氧化物酶体或微体是特殊的亚细胞细胞器，在多种不同有机化合物的代谢中起重要作用。它们尤其还是胆汁酸合成的重要场所。一些肝脏疾病，主要是胆汁淤积性疾病，可能与这些细胞器的胆汁酸合成紊乱有关。从生化角度来看，一些疾病表现为胆固醇侧链的改变（泽尔韦格综合征、假性泽尔韦格综合征、婴儿型雷夫叙姆病、新生儿肾上腺脑白质营养不良），其他疾病则表现为涉及类固醇核的错误（家族性巨细胞肝炎）。泽尔韦格病或脑肝肾综合征在临床上的特征是骨骼改变、肌张力减退、肾囊肿、身心发育迟缓以及持续性胆汁淤积，从超微结构角度来看则是肝细胞过氧化物酶体几乎缺失。假性泽尔韦格病表现出许多泽尔韦格病的临床特征，但由于肝细胞中存在丰富的过氧化物酶体而与该病不同。婴儿型雷夫叙姆病和新生儿肾上腺脑白质营养不良表现出典型的临床病症和导致肝硬化的肝损伤。“家族性巨细胞肝炎”的特征是从出生第一天起就出现黄疸、肝脾肿大、胆汁淤积，无身体畸形。该病症是由于胆汁酸生物合成缺陷并形成别胆汁酸所致。
