Bull L N, Carlton V E, Stricker N L, Baharloo S, DeYoung J A, Freimer N B, Magid M S, Kahn E, Markowitz J, DiCarlo F J, McLoughlin L, Boyle J T, Dahms B B, Faught P R, Fitzgerald J F, Piccoli D A, Witzleben C L, O'Connell N C, Setchell K D, Agostini R M, Kocoshis S A, Reyes J, Knisely A S
Department of Psychiatry, University of California San Francisco, USA.
Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121.
Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are not members of the Amish kindred in which ByD was described, are said to have Byler syndrome (ByS). Controversy exists as to whether ByD and ByS (subtypes of progressive familial intrahepatic cholestasis [PFIC]) represent one clinicopathological entity. The gene for ByD has been mapped to a 19-cM region of 18q21-q22. PFIC caused by a lesion in this region, including ByD, can be designated PFIC-1. Examination of haplotypes in siblings with ByS in two unrelated non-Amish families showed that the gene(s) responsible for their disorder(s) did not lie in the PFIC-1 candidate region. On light microscopy and transmission electron microscopy (TEM), liver tissue differed between Amish children with PFIC-1, who had coarsely granular bile and at presentation had bland intracanalicular cholestasis, and the children with ByS in the two non-Amish families, who had amorphous or finely filamentous bile and at presentation had neonatal hepatitis. Bile acid composition of bile also differed: In the Amish children with PFIC-1 and in one ByS family, the proportional concentration of chenodeoxycholic acid (CDCA) in bile was low compared with normal bile; in the other ByS family, it was only slightly reduced. Genetic analysis and light microscopy and TEM of liver may help distinguish PFIC-1 from other forms of ByS.
拜勒病（ByD）是一种常染色体隐性疾病，婴儿期发病的胆汁淤积会导致肝纤维化并最终死亡。患有临床症状相似疾病，但并非最初描述拜勒病的阿米什家族成员的儿童，被称为患有拜勒综合征（ByS）。拜勒病和拜勒综合征（进行性家族性肝内胆汁淤积症[PFIC]的亚型）是否代表同一临床病理实体存在争议。拜勒病的基因已被定位到18q21 - q22的一个19厘摩区域。由该区域病变导致的PFIC，包括拜勒病，可被命名为PFIC - 1。对两个不相关的非阿米什家族中患有拜勒综合征的兄弟姐妹的单倍型进行检测发现，导致他们疾病的基因并不位于PFIC - 1候选区域。在光学显微镜和透射电子显微镜（TEM）下观察，患有PFIC - 1的阿米什儿童的肝组织与两个非阿米什家族中患有拜勒综合征的儿童的肝组织不同，前者胆汁呈粗大颗粒状，初发时表现为管腔内胆汁淤积，后者胆汁呈无定形或细丝状，初发时表现为新生儿肝炎。胆汁的胆汁酸组成也有所不同：在患有PFIC - 1的阿米什儿童和一个拜勒综合征家族中，胆汁中鹅去氧胆酸（CDCA）的比例浓度低于正常胆汁；在另一个拜勒综合征家族中，其仅略有降低。基因分析以及肝脏的光学显微镜和透射电子显微镜检查可能有助于区分PFIC - 1和其他形式的拜勒综合征。
