title: Bone complications in children with Gaucher disease.
abstract: For paediatric patients with Gaucher disease, enzyme replacement therapy (ERT) has the potential to prevent the development of serious, irreversible skeletal complications. Analysis of skeletal data for paediatric patients receiving ERT must take into account the pubertal growth spurt and developmental changes in bone marrow composition. In a study conducted at the Burlo Garofolo Institute in Trieste, Italy, 10 paediatric patients have received ERT, and data are available for 3-9 years of follow-up. ERT was associated with a significant increase in the mean lumbar bone mineral density (BMD) Z score after 2 years of treatment (p=0.003). Skeletal growth rates increased among patients exhibiting growth delays. At the Gaucher Disease Treatment Center in Cincinnati, OH, USA, a total of 11 paediatric patients have been followed for 2 years or more of ERT. Of these 11 patients, 6 have demonstrated significant increases in lumbar BMD after 2 years of ERT; these patients tended to have lower BMD Z scores at the start of ERT. At the Children's Hospital of the Johannes-Gutenberg University in Mainz, Germany, 7 children with type 1 Gaucher disease presented with reduced BMD in the distal ulna, and after 18-24 months of ERT, these patients demonstrated increases in BMD at this site. The patients exhibiting growth retardation experienced growth acceleration during treatment. These studies suggest that ERT improves BMD and growth rates in paediatric patients with Gaucher disease. ERT in paediatric patients may have the potential to prevent serious skeletal complications such as fractures and vertebral compression later in life.
authors.affiliation: Burlo Garofolo Institute, Trieste, Italy. bembi@burlo.trieste.it
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: G
authors.initials: G
authors.lastname: Ciana
authors.forename: E
authors.initials: E
authors.lastname: Mengel
authors.forename: M R
authors.initials: MR
authors.lastname: Terk
authors.forename: C
authors.initials: C
authors.lastname: Martini
authors.forename: R J
authors.initials: RJ
authors.lastname: Wenstrup
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D015519:Bone Density / Q000187:drug effects; D001847:Bone Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D057487:Enzyme Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase