title: Echogenic kidneys and medullary calcium deposition in a young child with glycogen storage disease type 1a.
abstract: We report the case of a young child with Glycogen Storage Disease (GSD) type-Ia who developed echogenic kidneys, medullary calcium deposition and disturbance of renal function. These severe renal abnormalities are seen in young adults whose GSD-I has been ineffectively treated. Renal disease can be considered a major problem in GSD-I.
authors.affiliation: Department of Radiology, A. Z. U. University Hospital, Utrecht, The Netherlands.
authors.forename: J J
authors.initials: JJ
authors.lastname: Fick
authors.forename: F J
authors.initials: FJ
authors.lastname: Beek
mesh_terms: D002118:Calcium / Q000378:metabolism; D002675:Child, Preschool; D006003:Glycogen / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging* / Q000378:metabolism; D007679:Kidney Medulla / Q000000981:diagnostic imaging* / Q000378:metabolism; D008297:Male; D009397:Nephrocalcinosis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000378:metabolism; D014463:Ultrasonography
chemical_list: D006003:Glycogen; D002118:Calcium