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World J Gastroenterol. May 21, 2006; 12(19): 3123-3125
Published online May 21, 2006. doi: 10.3748/wjg.v12.i19.3123
Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant genetic disorder
Chun-Lian Wang, Xiao-Wei Liu, Fang-Gen Lu, Xiao-Ping Wu, Chun-Hui Ouyang, Dong-Ye Yang
Chun-Lian Wang, Xiao-Wei Liu, Fang-Gen Lu, Xiao-Ping Wu, Chun-Hui Ouyang, Dong-Ye Yang, Department of Gastroenterology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China
Author contributions: All authors contributed equally to the work
Correspondence to: Dr. Xiao-Wei Liu, Department of Gastroenterology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China. liuxw@mail.csu.edu.cn
Telephone: +86-731-4807725 Fax: +86-731-4807725
Received: January 12, 2006
Revised: February 15, 2006
Accepted: February 18, 2006
Published online: May 21, 2006
Abstract

AIM: To describe the pattern of inheritance and confirm the diagnostic 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 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.

Keywords: Hyperbilirubinaemia; Hereditary; Shunt