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

M. Awazu, T. Tanaka, S. Sato, M. Anzo, M. Higuchi, K. Yamazaki, N. Matsuo

Research output: Contribution to journalArticle

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Abstract

Alstrom 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 Alstrom 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 Alstrom 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 Alstrom syndrome.

Original languageEnglish
Pages (from-to)13-16
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume69
Issue number1
DOIs
Publication statusPublished - 1997

Fingerprint

Alstrom Syndrome
Liver
Retinal Degeneration
Esophageal and Gastric Varices
Splenomegaly
Deafness
Fatty Liver
Ascites
Type 2 Diabetes Mellitus
Liver Diseases
Autopsy
Fibrosis
Necrosis
Obesity
Biopsy
Enzymes

Keywords

  • Alstrom syndrome
  • deafness
  • diabetes mellitus
  • hepatitis
  • liver cirrhosis
  • nephropathy
  • obesity
  • retinal degeneration
  • variant

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hepatic dysfunction in two sibs with Alstrom syndrome : Case report and review of the literature. / Awazu, M.; Tanaka, T.; Sato, S.; Anzo, M.; Higuchi, M.; Yamazaki, K.; Matsuo, N.

In: American Journal of Medical Genetics, Vol. 69, No. 1, 1997, p. 13-16.

Research output: Contribution to journalArticle

Awazu, M. ; Tanaka, T. ; Sato, S. ; Anzo, M. ; Higuchi, M. ; Yamazaki, K. ; Matsuo, N. / Hepatic dysfunction in two sibs with Alstrom syndrome : Case report and review of the literature. In: American Journal of Medical Genetics. 1997 ; Vol. 69, No. 1. pp. 13-16.
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