Hofbauer L C, Mrozek-Lasota A, Jelinek T, Schworm H D, Zimmermann D, Heufelder A E
Medizinische Klinik, Ludwig-Maximilians-Universität München.
Med Klin (Munich). 1997 Sep 15;92(9):528-33. doi: 10.1007/BF03044928.
Patients with gastrointestinal and hepatobiliary disorders, either congenital or acquired early in childhood, are at high risk for various endocrine and metabolic abnormalities.
A 27-year-old woman with Alagille's syndrome presented with progressive jaundice and gait disturbances following surgery and ingestion of oral contraceptives. On physical examination, short stature, facial dysmorphism and neuromuscular symptoms such as polyneuropathy and spinocerebellar ataxia were noted. Serum concentrations of total bilirubin (54 mg/dl) and alkaline phosphatase were markedly increased, whereas serum levels of haptoglobin, zinc, vitamin D and E were decreased. Although prehepatic or intrahepatic etiologies of jaundice were more likely in this patient, posthepatic etiologies were ruled out by abdominal ultrasound and endoscopic retrograde cholangio-pancreaticography. Based on a working diagnosis of acute drug-induced cholestasis, treatment with high doses of lipid-soluble vitamins and ursodeoxycholic acid was initiated. In response to therapy, her abnormal laboratory results normalized and her neurologic symptoms markedly improved.
This clinicopathological conference of a patient with Alagille's syndrome illustrates the clinical presentation and therapy of metabolic and endocrine complications in chronic cholestasis.
患有先天性或儿童早期获得性胃肠和肝胆疾病的患者，有发生各种内分泌和代谢异常的高风险。
一名27岁患有阿拉吉列综合征的女性，在手术及服用口服避孕药后出现进行性黄疸和步态障碍。体格检查发现身材矮小、面部畸形以及多神经病和脊髓小脑共济失调等神经肌肉症状。血清总胆红素浓度（54mg/dl）和碱性磷酸酶明显升高，而血清触珠蛋白、锌、维生素D和E水平降低。尽管该患者黄疸的病因更可能是肝前性或肝内性，但腹部超声和内镜逆行胰胆管造影排除了肝后性病因。基于急性药物性胆汁淤积的初步诊断，开始给予大剂量脂溶性维生素和熊去氧胆酸治疗。对治疗的反应是，她异常的实验室检查结果恢复正常，神经症状明显改善。
该例阿拉吉列综合征患者的临床病理讨论会阐述了慢性胆汁淤积中代谢和内分泌并发症的临床表现及治疗。
