title: Glomerular and tubular function in glycogen storage disease.
abstract: Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2-32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2-31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2-35.4 years). Inulin (Cinulin) and para-aminohippuric acid (CPAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I, Cinulin (r = -0.51, P = 0.03) and NAG excretion (r = -0.40, P = 0.03) were inversely correlated with age, whereas albumin excretion was positively correlated with age (r = +0.41, P = 0.03). RBP and calcium excretion were generally high throughout all age groups. Hyperfiltration in GSD-I is associated with renal tubular proteinuria that occurs before the onset of significant albuminuria. Deficiency of glucose-6-phosphatase within the proximal renal tubule may primarily cause tubular dysfunction, glomerular hyperfiltration being a secondary phenomenon.
authors: International Growth Research Centre, Institute of Child Health, London, UK.
authors: P J
authors: PJ
authors: Lee
authors: R N
authors: RN
authors: Dalton
authors: V
authors: V
authors: Shah
authors: P C
authors: PC
authors: Hindmarsh
authors: J V
authors: JV
authors: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D000419:Albuminuria / Q000652:urine; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D005260:Female; D005919:Glomerular Filtration Rate; D006008:Glycogen Storage Disease / Q000097:blood / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000503:physiopathology; D006010:Glycogen Storage Disease Type III / Q000097:blood / Q000503:physiopathology; D006596:Hexosaminidases / Q000652:urine; D006801:Humans; D007677:Kidney Function Tests; D007678:Kidney Glomerulus / Q000000981:diagnostic imaging / Q000503:physiopathology*; D007684:Kidney Tubules / Q000000981:diagnostic imaging / Q000503:physiopathology*; D008297:Male; D012177:Retinol-Binding Proteins / Q000378:metabolism; D014463:Ultrasonography
chemical_list: D001786:Blood Glucose; D012177:Retinol-Binding Proteins; D003404:Creatinine; D006596:Hexosaminidases