title: Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
abstract: OBJECTIVE
  To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology.
  
  
  METHODS
  Convenience sample.
  
  
  METHODS
  Tertiary care, referral center.
  
  
  METHODS
  Two related children referred for failure to thrive, rickets, and hepatomegaly.
  
  
  METHODS
  Dietary and therapeutic measures for rickets and renal tubular acidosis.
  
  
  RESULTS
  The main laboratory findings were fasting hypoglycemia and massive glucosuria, with evidence of multiple renal tubular dysfunction characteristic of the Fanconi syndrome. Liver and kidney biopsy specimens were consistent with glycogen storage disease. Enzymatic assay of liver homogenates revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other.
  
  
  CONCLUSIONS
  Phosphorylase b kinase deficiency may be causally related to hepatorenal glycogenosis with the Fanconi syndrome. More patients with this syndrome need to be studied before a definitive causal role is implicated.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: S A
authors.initials: SA
authors.lastname: Sanjad
authors.forename: R E
authors.initials: RE
authors.lastname: Kaddoura
authors.forename: H M
authors.initials: HM
authors.lastname: Nazer
authors.forename: M
authors.initials: M
authors.lastname: Akhtar
authors.forename: N A
authors.initials: NA
authors.lastname: Sakati
mesh_terms: D001706:Biopsy; D005198:Fanconi Syndrome / Q000150:complications / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D010375:Pedigree; D010764:Phosphorylase Kinase / Q000172:deficiency*
chemical_list: D010764:Phosphorylase Kinase