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Alström syndrome with acute pancreatitis: a case report.

作者信息

Wu Wen-Chih, Chen Shinn-Cherng, Dia Chia-Yen, Yu Ming-Lung, Hsieh Ming-Yuh, Lin Zu-Yau, Wang Liang-Yen, Tsai Jung-Fa, Chang Wen-Yu, Chuang Wan-Long

机构信息

Division of Hepatobiliary Medicine, Department of Internal Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

出版信息

Kaohsiung J Med Sci. 2003 Jul;19(7):358-61. doi: 10.1016/S1607-551X(09)70438-3.

Abstract

We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia, compatible with the clinical diagnosis of Alström syndrome. Serial examinations showed liver dysfunction and pancreatitis. In treating a patient with poor communication (i.e. cone-rod dystrophy and hearing impairment) suffering from acute illness, understanding the underlying disease and the potential for pancreatitis with hypertriglyceridemia is necessary. It is also a challenge to treat a patient with multiple system involvement. In conclusion, Alström syndrome is a disease of systemic multi-organ involvement, and hepatic disease and pancreatitis, possibly due to dyslipidemia, appear to be manifestations of Alström syndrome.

摘要

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本文引用的文献

1
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
Nat Genet. 2002 May;31(1):79-83. doi: 10.1038/ng874. Epub 2002 Apr 8.
2
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Nat Genet. 2002 May;31(1):74-8. doi: 10.1038/ng867. Epub 2002 Apr 8.
3
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.
Am J Med Genet. 2001 Jun 1;101(1):9-11. doi: 10.1002/ajmg.1292.
5
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
Am J Med Genet. 1997 Dec 12;73(2):150-61. doi: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y.
8
Acute pancreatitis: value of CT in establishing prognosis.
Radiology. 1990 Feb;174(2):331-6. doi: 10.1148/radiology.174.2.2296641.

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