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

• Published in: World journal of gastroenterology : WJG Vol. 12; no. 19; pp. 3123 - 3125
• Main Authors: Wang, Chun-Lian, Liu, Xiao-Wei, Lu, Fang-Gen, Wu, Xiao-Ping, Ouyang, Chun-Hui, Yang, Dong-Ye
• Format: Journal Article
• Language: English
• Published: United States Department of Gastroenterology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China 21.05.2006; Baishideng Publishing Group Co., Limited
• Subjects: Adult; Erythrocytes - pathology; Genes, Dominant - genetics; Humans; Hyperbilirubinemia, Hereditary - diagnosis; Hyperbilirubinemia, Hereditary - genetics; Leukocyte Count; Male; Pedigree; Rapid Communication; 染色体; 消化疾病; 遗传疾病; 高胆红素血; Shunt; Hereditary; Hyperbilirubinaemia
• ISSN: 1007-9327; 2219-2840
• DOI: 10.3748/wjg.v12.i19.3123

AIM： To describe the pattern of inheritance and confirm the diagnostic criteda 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 pattern 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 born to unaffected parents. The penetrance was complete in adult. CONCLUSION： The pattern 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.