PMID- 12084856
OWN - NLM
STAT- MEDLINE
DCOM- 20021210
LR  - 20061115
IS  - 0031-3998 (Print)
IS  - 0031-3998 (Linking)
VI  - 52
IP  - 1
DP  - 2002 Jul
TI  - Insulin-like growth factors in childhood-onset Gaucher disease.
PG  - 109-12
AB  - There is a high prevalence of growth retardation in children with type 1 Gaucher 
      disease. The cause of this poor growth is not yet known; however, studies have 
      shown acceleration of growth with enzyme replacement therapy (ERT). IGF are 
      recognized as important determinants of somatic growth. It has been proven that 
      chronic diseases with liver involvement might cause IGF deficiency. The aim of 
      this study was to assess the IGF system in patients with childhood-onset Gaucher 
      disease, before and after ERT, and its association with other clinical and 
      analytical parameters. Twenty-two patients with type I Gaucher disease were 
      included. The diagnosis was established before 14 y of age in all patients. 
      Baseline determinations of total IGF-I, free IGF-I, and IGF binding protein 3 
      (IGFBP-3) were obtained in 19 patients before starting ERT at a mean age of 13.8 
      +/- 11.2 y. A Spearman test was performed to establish the association with other 
      clinical and analytical parameters. In a group of 13 patients receiving IGF, 
      changes were evaluated during the initial 2 y of treatment. A Wilcoxon test was 
      performed for the statistical analysis. Total IGF-I, free IGF-I, and IGFBP-3 were 
      expressed as SD scores (SDS). We found low levels of IGF and its binding proteins 
      before ERT. A significant association was found between the total IGF-I SDS 
      before treatment and the age-adjusted severity score index: r = -0.62, p < 0.05. 
      Total IGF-I and IGFBP-3 SDS correlated negatively with the presence of the L444P 
      mutation (r = -0.53 and -0.5, respectively, p < 0.05). Height SDS correlated with 
      total IGF-I and IGFBP-3 SDS in eight children (r = 0.84 and 0.78, respectively, p 
      < 0.05). Total IGF-I SDS increased from -1.8 +/- 0.8 to -0.8 +/- 1.4 (p = 0.005) 
      and free IGF-I increased from -1.2 +/- 1 to 1.1 +/- 2.1 after 12 +/- 6.8 mo (p = 
      0.011) of ERT. IGFBP-3 SDS increased from -1.3 +/- 0.6 to -0.2 +/- 1.2 (p = 
      0.012) after 12 +/- 4.5 mo of ERT. Type 1 Gaucher disease is associated with low 
      levels of IGF and its binding proteins, which could be a consequence of liver 
      involvement. Total IGF-I deficiency is associated with the severity of the 
      illness. Growth retardation in pediatric patients with Gaucher disease is related 
      to the alterations in IGF axis. Total IGF-I and IGFBP-3 are the two parameters 
      that better correlate with height before treatment. ERT results in significant 
      increase of total IGF-I, free IGF-I, and IGFBP-3 during the first year of 
      treatment.
FAU - Rite, Segundo
AU  - Rite S
AD  - Department of Paediatrics, Miguel Servet Hospital, Zaragoza, Spain. 
      segundorite@yahoo.es
FAU - Baldellou, Antonio
AU  - Baldellou A
FAU - Giraldo, Pilar
AU  - Giraldo P
FAU - Labarta, Jose Ignacio
AU  - Labarta JI
FAU - Giralt, Manuel
AU  - Giralt M
FAU - Rubio-Felix, Daniel
AU  - Rubio-Felix D
FAU - Guallar, Ana
AU  - Guallar A
FAU - Perez-Calvo, Jose Ignacio
AU  - Perez-Calvo JI
FAU - Mayayo, Esteban
AU  - Mayayo E
FAU - Ferrandez, Angel
AU  - Ferrandez A
FAU - Pocovi, Miguel
AU  - Pocovi M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Res
JT  - Pediatric research
JID - 0100714
RN  - 0 (Insulin-Like Growth Factor Binding Protein 3)
RN  - 67763-96-6 (Insulin-Like Growth Factor I)
SB  - IM
MH  - Age of Onset
MH  - Child
MH  - Female
MH  - Gaucher Disease/*blood
MH  - Growth Disorders/blood
MH  - Humans
MH  - Insulin-Like Growth Factor Binding Protein 3/*blood
MH  - Insulin-Like Growth Factor I/*metabolism
MH  - Male
EDAT- 2002/06/27 10:00
MHDA- 2002/12/11 04:00
CRDT- 2002/06/27 10:00
PHST- 2002/06/27 10:00 [pubmed]
PHST- 2002/12/11 04:00 [medline]
PHST- 2002/06/27 10:00 [entrez]
AID - 10.1203/00006450-200207000-00020 [doi]
PST - ppublish
SO  - Pediatr Res. 2002 Jul;52(1):109-12. doi: 10.1203/00006450-200207000-00020.