Assmann B, Hoffmann G F, Wagner L, Bräutigam C, Seyberth H W, Duran M, Van Kuilenburg A B, Wevers R, Van Gennip A H
University Children's Hospital Marburg, Germany.
J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168.
We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development appeared only slightly delayed. At the age of 7 months he died due to septicaemia. In addition to disturbances of electrolyte balance and renal tubular function, which could be attributed to microvillous atrophy, marked elevations of dihydrouracil and dihydrothymine as well as moderately elevated excretion of uracil and thymine in urine were repeatedly demonstrated, suggesting a disorder of pyrimidine degradation. An enzymatic defect of 5,6-dihydropyrimidine amidohydrolase (EC 3.5.2.2, dihydropyrimidinase, DHP) was demonstrated in liver biopsy. As both of these recessive disorders seem to be extremely rare, it remains speculative, whether he suffered from two independently inherited metabolic diseases or whether this represents a hitherto undescribed contiguous gene syndrome.
我们描述了一个父母近亲结婚的男孩，他因先天性微绒毛萎缩而患有顽固性腹泻，这是一种隐性遗传的常染色体疾病。他在2周龄时开始出现严重胆汁淤积，最终发展为肝硬化。他的精神运动发育仅略有延迟。7个月大时，他因败血症死亡。除了可归因于微绒毛萎缩的电解质平衡和肾小管功能紊乱外，还反复证明尿中二氢尿嘧啶和二氢胸腺嘧啶显著升高，以及尿嘧啶和胸腺嘧啶排泄适度升高，提示嘧啶降解紊乱。肝活检显示5,6 - 二氢嘧啶酰胺水解酶（EC 3.5.2.2，二氢嘧啶酶，DHP）存在酶缺陷。由于这两种隐性疾病似乎都极为罕见，所以他是患有两种独立遗传的代谢疾病，还是代表一种迄今未描述的相邻基因综合征，仍属推测。
