TY - JOUR
T1 - Hepatic dysfunction in two sibs with Alström syndrome
T2 - Case report and review of the literature
AU - Awazu, Midori
AU - Tanaka, Tetsuya
AU - Sato, Seiji
AU - Anzo, Makoto
AU - Higuchi, Masataka
AU - Yamazaki, Kazuto
AU - Matsuo, Nobutake
PY - 1997/3/3
Y1 - 1997/3/3
N2 - 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.
AB - 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.
KW - Alström syndrome
KW - Deafness
KW - Diabetes mellitus
KW - Hepatitis
KW - Liver cirrhosis
KW - Nephropathy
KW - Obesity
KW - Retinal degeneration
KW - Variant
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U2 - 10.1002/(sici)1096-8628(19970303)69:1<13::aid-ajmg3>3.0.co;2-u
DO - 10.1002/(sici)1096-8628(19970303)69:1<13::aid-ajmg3>3.0.co;2-u
M3 - Review article
C2 - 9066877
AN - SCOPUS:0031046702
VL - 69
SP - 13
EP - 16
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -