title: Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.
abstract: Liver transplantation may be indicated in patients with GSD type Ia when dietary treatment fails or when hepatic adenomas develop, because they carry a risk of liver cancer or severe intratumoral haemorrhage. Published reports on the results of liver transplantation in patients with GSD Ia include 10 patients and provide little information on long-term outcome. In particular, it is not known whether liver transplantation prevents renal failure due to focal segmental glomerulosclerosis. We report here on 3 patients with GSD Ia in whom liver transplantation was performed at 15, 17 and 23 years of age because of multiple hepatic adenomas in all 3 patients with a fear of malignant transformation, and of poor metabolic balance and severe growth retardation in the youngest one. Renal function was normal in all patients. During the 6-8 years following transplantation, the quality of life has initially greatly improved, with none of the previous dietary restraints and a spectacular increase in height. However, long-term complications included chronic hepatitis C in one patient, gouty attacks in another and focal segmental glomerulosclerosis with progressive renal insufficiency in the third. These results: (1) confirm that liver transplantation restores a normal metabolic balance in patients with GSD Ia, allows catch-up growth and improves the quality of life; (2) suggest that liver transplantation may be considered in teenagers with unresectable multiple adenomas because of a lack of clear-cut criteria to detect malignant transformation early; and (3) suggest that liver transplantation does not prevent focal segmental glomerulosclerosis associated with GSD Ia.
authors.affiliation: Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: D
authors.initials: D
authors.lastname: Houssin
authors.forename: J
authors.initials: J
authors.lastname: Valayer
authors.forename: J
authors.initials: J
authors.lastname: Brouard
authors.forename: M
authors.initials: M
authors.lastname: Hadchouel
authors.forename: O
authors.initials: O
authors.lastname: Bernard
mesh_terms: D000236:Adenoma / Q000209:etiology / Q000601:surgery*; D000293:Adolescent; D000328:Adult; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology / Q000517:prevention & control; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006073:Gout / Q000209:etiology; D019698:Hepatitis C, Chronic / Q000209:etiology; D006801:Humans; D008113:Liver Neoplasms / Q000209:etiology / Q000601:surgery*; D016031:Liver Transplantation; D008297:Male; D011788:Quality of Life; D016896:Treatment Outcome