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Войти в исследования Hepatology research : the official journal of the Japan Society of Hepatology · 2025
Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Mino Masaaki, Mori Nami, Shimomura Yumi, Yamazoe Taiji, Takaki Shintaro, Miki Daiki, Tsuji Keiji, Hamamoto Kazuko, Fukuda Tokiko, Sugie Hideo, Tsuge Masataka, Oka Shiro
Аннотация
BACKGROUND & AIM: Classic hepatic glycogen storage disease IV (GSD-IV) is widely regarded as an irreversible disorder that causes fatal cirrhosis by the age of 5 years unless liver transplantation is performed. We describe the first patient with biopsy-proven classic hepatic GSD-IV who survived into middle adulthood without transplantation and showed histological reversal of cirrhosis.
CASE: We followed an infant diagnosed at 11 months with hepatosplenomegaly, severe aminotransferase elevation, and near-absent erythrocyte branching enzyme activity. Liver biopsies at ages 4 and 12 years confirmed polyglucosan-laden METAVIR F4 cirrhosis, and two episodes of variceal bleeding were controlled endoscopically and surgically. Thereafter, without disease-specific therapy, the aminotransferase level, platelet count, and portal hemodynamics gradually normalized. A third biopsy at age 43 showed complete disappearance of polyglucosan bodies and regression of fibrosis to F0, despite persistently minimal enzyme activity and compound heterozygous GBE1 variants in trans: c.137A > C p.(Gln46Pro) and the novel c.1340T > C p.(Leu447Pro).
CONCLUSIONS: This unprecedented case demonstrates that biochemical and histological remission is possible in classic hepatic GSD-IV despite persistently deficient branching-enzyme activity. Early, aggressive management of portal hypertension may therefore permit long-term survival and full histological recovery, challenging the transplant-first paradigm and supporting individualized, transplant-sparing care.
CASE: We followed an infant diagnosed at 11 months with hepatosplenomegaly, severe aminotransferase elevation, and near-absent erythrocyte branching enzyme activity. Liver biopsies at ages 4 and 12 years confirmed polyglucosan-laden METAVIR F4 cirrhosis, and two episodes of variceal bleeding were controlled endoscopically and surgically. Thereafter, without disease-specific therapy, the aminotransferase level, platelet count, and portal hemodynamics gradually normalized. A third biopsy at age 43 showed complete disappearance of polyglucosan bodies and regression of fibrosis to F0, despite persistently minimal enzyme activity and compound heterozygous GBE1 variants in trans: c.137A > C p.(Gln46Pro) and the novel c.1340T > C p.(Leu447Pro).
CONCLUSIONS: This unprecedented case demonstrates that biochemical and histological remission is possible in classic hepatic GSD-IV despite persistently deficient branching-enzyme activity. Early, aggressive management of portal hypertension may therefore permit long-term survival and full histological recovery, challenging the transplant-first paradigm and supporting individualized, transplant-sparing care.