title: [Renal involvement in glycogen storage disease type 1: Practical issues].
abstract: OBJECTIVE
  To investigate risk factors of renal complications in glycogen storage disease type I, in order to identify practical implications for renal preservation.
  
  
  METHODS
  A retrospective study of 38 patients with glycogen storage disease type I.
  
  
  RESULTS
  The patients studied were 8.6 years old in average (1.5 to 22 years) and were followed during 7.4 ± 4.5 years. Hypercalciuria was detected in 23 patients and was related to acidosis (P=0.028), higher lactate levels (5.9 ± 3.5 versus 3.7 ± 1.7 mmol/L; P=0.013) and smaller height (-2.1 ± 1.5 SD versus -0.8 ± 1.5 SD; P=0.026). Urolithiasis was diagnosed in 7 cases. Glomerular disease (19/38) was more frequent in cases with severe hypertriglyceridemia (P=0.042) and occurred at an older age (P=0.007). Microalbuminuria occurred in 15/31 cases; ACE inhibitors were prescribed in only 8 cases. The frequency of renal complications did not differ according to the diet group (continuous enteral feeding or uncooked starch). Logistic regression concluded as risk factors: lactic acidosis for tubular disease and age>10 years for glomerular disease.
  
  
  CONCLUSIONS
  Renal involvement is common in glycogen storage disease type I patients. Tubular abnormalities are precocious, related to lactic acidosis and may be detected by monitoring of urinary calcium. Glomerular hyperfiltration is the first stage of a progressive glomerular disease and is related to age. Practical implications for renal preservation are discussed based on our results and literature.
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie. Electronic address: benchehida_amel@yahoo.fr.
authors.forename: Amel
authors.initials: A
authors.lastname: Ben Chehida
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Takoua
authors.initials: T
authors.lastname: Bensmaïl
authors.affiliation: Laboratoire de génomique biomédicale et oncogénétique, institut Pasteur de Tunis, 13, place Pasteur, 1002 Tunis, Tunisie.
authors.forename: Faten
authors.initials: F
authors.lastname: Ben Rehouma
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Rim
authors.initials: R
authors.lastname: Ben Abdelaziz
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Hatem
authors.initials: H
authors.lastname: Azzouz
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Hela
authors.initials: H
authors.lastname: Boudabbous
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Slim Abdelmoula
authors.affiliation: Laboratoire de génomique biomédicale et oncogénétique, institut Pasteur de Tunis, 13, place Pasteur, 1002 Tunis, Tunisie.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.affiliation: Laboratoire de biochimie, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Hadhami
authors.initials: H
authors.lastname: Ben Turkia
authors.affiliation: Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
authors.forename: Néji
authors.initials: N
authors.lastname: Tebib
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology*; D008297:Male; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult
keywords: Acidose lactique; Angiotensin-converting enzyme inhibitors; Glycogen storage disease type I; Glycogénose de type I; Hypertriglyceridemia; Hypertriglycéridémie; Inhibiteurs de l’enzyme de conversion de l’angiotensine; Kidney diseases; Lactic acidosis; Maladies du rein; Urolithiases; Urolithiasis