Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant ge

• 作 者: Chun-Lian Wang Xiao-Wei Liu Fang-Gen Lu Xiao-Ping Wu Chun-Hui Ouyang Dong-Ye Yang
• 机 构: Department of Gastroenterology, the Second Xiangya Hospital, Central South University, Changsha 4100
• 出 处: 世界胃肠病学杂志（英文版）
• 发表日期: 2006年19期
• 关键词: Hyperbilirubinaemia Hereditary Shunt

AIM: To describe the patt of inheritance and confirm the diagnosdc criteria of primary shunt hyperbilirubinaemia (PSH).METHODS: Forty members of a family pedigree across four generations were included in this study. All family members were interviewed and investigated by physical examination, hematology and liver function test and the patt of inheritance was analyzed.RESULTS: Nine of the forty family members suffered primary shunt hyperbilirubinaemia. The mature erythrocytes of the propositus were irregular in shape and size.The pedigree showed transmission of the trait through four generations with equal distribution in male and female. No individual with a primary shunt hyperbilirubinaemia was b to unaffected parents. The penetrance was complete in adult.CONCLUSION: The patt of inheritance is autosomal dominant. The abnormality of erythrocytes and decrease in white blood cell could be supplemented in the diagnosis of PSH. The PSH is a genetic disorder and could by renamed as hereditary shunt hyperbilirubinaemia.