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标题：Cholestasis Familiaris Groelandica: an epidemiological, clinical and genetic study
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作者：I-M. Nielsen ; H. Eiberg
期刊名称：International Journal of Circumpolar Health
印刷版ISSN：1239-9736
电子版ISSN：2242-3982
出版年度：2004
卷号：63
DOI：10.3402/ijch.v63i0.17899
语种：English
摘要：Objectives. Accumulation of Cholestasis Familiaris Groenlandica (CFG) or progressive familial intrahepatic cholestasis type 1 (PFIC1) occurs in indigenous Inuit families in Greenland. It is an autosomal recessive inherited liver disease. From early childhood the children suffer from failure to thrive, jaundice, pruritus and enlarged liver. Affected persons generally die very young. Study design. Patients’ information has been collected from the Greenlandic death register and hospital records. Methods. Detailed genealogy including clinical description and examination if possible. Interviews of parents and relatives, linkage and DNA analysis of the probands and the closest relatives have been studied. Results. 46 affected cases from a highly inbred population have been diagnosed since 1943. The disease is caused by a missense mutation in the FIC1 gene ATP8B1, chromosome 18q21. Six affected children are alive aged 1-21 years. Among the tested relatives 220 are heterozygote. One prenatal diagnosis has been performed. Conclusion. The mutation causing Cholestasis Familiaris Groenlandica is widespread in Greenland, but accumulation is seen in certain areas. The disease is burdensome for the child, the parents and the Greenlandic society. Genetic counselling and carrier screening are strongly recommended.Keywords: Cholestasis Familiaris Groenlandica, Byler disease, ATP8B1, Greenland, intrahepatic cholestasis, carrier screening
关键词：Cholestasis Familiaris Groenlandica, Byler disease, ATP8B1, Greenland, intrahepatic cholestasis, carrier screening