Rossi Simona, Herrine Steven K, Navarro Victor J
Department of Gastroenterology and Hepatology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania 19107, USA.
Dig Dis Sci. 2005 Jul;50(7):1372-5. doi: 10.1007/s10620-005-2789-0.
Cystinosis is a rare autosomal recessive storage disorder, characterized by the abnormal accumulation of cystine in cellular lysosomes. This accumulation, which can occur in any organ system, leads to crystallization of trapped cystine and ultimately cellular death. Hepatic manifestations of Cystinosis although rare, have been described in the literature. However, to our knowledge, only one other case of non-cirrhotic portal hypertension secondary to cystine accumulation in Kupffer cells has been reported. In this case and ours, portal hypertension was found in the absence of bridging fibrosis. Furthermore, in our case, for the majority of the patient's course, hepatic synthetic function remained normal. Cysteamine is therapeutic in this disorder, and can lead to significant removal of cystine, and thus to reversibility of disease, however, it requires high doses and must be taken regularly. Porto-systemic shunting in combination with aggressive medical therapy could potentially benefit patients who develop non-cirrhotic portal hypertension in this clinical setting.
胱氨酸病是一种罕见的常染色体隐性遗传性贮积病，其特征是细胞溶酶体中胱氨酸异常蓄积。这种蓄积可发生于任何器官系统，导致被困的胱氨酸结晶，最终导致细胞死亡。胱氨酸病的肝脏表现虽然罕见，但文献中已有描述。然而，据我们所知，文献中仅报道过另一例因库普弗细胞中胱氨酸蓄积继发非肝硬化性门静脉高压的病例。在该病例以及我们的病例中，门静脉高压是在无桥接纤维化的情况下发现的。此外，在我们的病例中，在患者病程的大部分时间里，肝脏合成功能保持正常。半胱胺对这种疾病有治疗作用，可导致胱氨酸大量清除，从而使疾病可逆，然而，它需要高剂量且必须定期服用。在这种临床情况下，门体分流术联合积极的药物治疗可能会使发生非肝硬化性门静脉高压的患者受益。
