Hepatic dysfunction in two sibs with Alström syndrome: Case report and review of the literature

Midori Awazu, Tetsuya Tanaka, Seiji Sato, Makoto Anzo, Masataka Higuchi, Kazuto Yamazaki, Nobutake Matsuo

Research output: Contribution to journalReview articlepeer-review

45 Citations (Scopus)


Alström syndrome is an autosomal recessive disorder (MIM No. *203800) characterized by retinal degeneration, obesity, deafness, noninsulin-dependent diabetes mellitus, and nephropathy. We report two sibs with Alström syndrome and hepatic dysfunction. The first sib developed elevations in liver enzymes at 29 years of age. Liver biopsy showed fatty liver, lymphocytic infiltration, and piecemeal necrosis. The second sib had had elevated γ-glutamyltransferase levels since she was 10 years old. She developed ascites, esophageal varices, and splenomegaly in her twenties. Cirrhosis was confirmed by autopsy; the patient was 26 years of age at death. Three Alström syndrome patients with hepatic dysfunction have been documented previously. No specific cause was identified for liver disease in any of the patients, including ours. Hepatic dysfunction appears to be a manifestation of Alström syndrome.

Original languageEnglish
Pages (from-to)13-16
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 1997 Mar 3


  • Alström syndrome
  • Deafness
  • Diabetes mellitus
  • Hepatitis
  • Liver cirrhosis
  • Nephropathy
  • Obesity
  • Retinal degeneration
  • Variant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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