title: Bone mineral density is normal in children with Fanconi anemia.
abstract: BACKGROUND
  Conflicting data exist regarding whether low bone mineral density (BMD) is associated with Fanconi anemia (FA). The current study identified the frequency of low BMD in FA, expecting low BMD even in childhood and before HCT.
  
  
  METHODS
  Thirty-seven FA patients (18 prior HCT, 19 no prior HCT), participating in an IRB-approved database, had clinical assessment of DXA of lumbar spine BMD. Four had used androgens, one later underwent HCT. Most had used glucocorticoids after HCT (prolonged in five), and one more with no HCT. BMD [in standard deviation units from mean for age (SD), gender, and ethnicity (BMD Z-score)] was then adjusted for height age, and separately for bone maturation (BA). Data were collected for height SD, pubertal stage, and duration since HCT.
  
  
  RESULTS
  BMD Z-score (without adjustment) was <-1 SD in half of FA children. BA-adjusted BMD Z-score was similar. (BA was not usually delayed, although most patients were short.) In contrast, height age-adjusted BMD Z-score was normal in most with FA (only below -2.0 in one child after prolonged glucocorticoids). Mean duration after HCT until DXA test was 6.2 years (median 4.2 years, range 1-18 years).
  
  
  CONCLUSIONS
  Children and adolescents with FA have normal BMD prior to and after HCT, when DXA results are adjusted for bone size/height age. In contrast, BA-adjustment of BMD was not useful in this population. Individual BMD results may be influenced by gonadal function, transplantation status, and prolonged glucocorticoid therapy.
authors.affiliation: Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. Susan.Rose@cchmc.org
authors.forename: Susan R
authors.initials: SR
authors.lastname: Rose
authors.forename: Meilan M
authors.initials: MM
authors.lastname: Rutter
authors.forename: Robin
authors.initials: R
authors.lastname: Mueller
authors.forename: Michelle
authors.initials: M
authors.lastname: Harris
authors.forename: Beth
authors.initials: B
authors.lastname: Hamon
authors.forename: Arin Fletcher
authors.initials: AF
authors.lastname: Bulluck
authors.forename: Franklin O
authors.initials: FO
authors.lastname: Smith
mesh_terms: D000293:Adolescent; D000328:Adult; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D055815:Young Adult