title: Renal disease in an adult with type 1 glycogen storage disease.
abstract: The renal disease in an adult woman with Type 1 glycogen storage disease (GSD) is reported. Since she was 15 years old, several episodes of gouty arthritis had developed. At the age of 18, proteinuria was pointed out. Hepatomegaly, renomegaly out of proportion to the impairment of renal function, hyperuricemia, hyperlipidemia, fasting hypoglycemia and lactic acidemia were observed. The diagnosis of GSD was established on the basis of a glucose tolerance test, glucagon test and liver biopsy. The findings of renal biopsies performed at the ages of 24 and 27 years old suggested that glomerular damage might have preceded the tubulo-interstitial lesion.
authors.affiliation: 3rd Department of Internal Medicine, Kumamoto University Medical School, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kiyama
authors.forename: Y
authors.initials: Y
authors.lastname: Kitamoto
authors.forename: M
authors.initials: M
authors.lastname: Nakayama
authors.forename: H
authors.initials: H
authors.lastname: Fukui
authors.forename: S
authors.initials: S
authors.lastname: Arima
authors.forename: M
authors.initials: M
authors.lastname: Tomita
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: T
authors.initials: T
authors.lastname: Sato
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007674:Kidney Diseases / Q000209:etiology*