TY - JOUR
T1 - Growth restriction in children with type B Niemann-Pick disease
AU - Wasserstein, Melissa P.
AU - Larkin, Alexandra E.
AU - Glass, Ronald B.
AU - Schuchman, Edward H.
AU - Desnick, Robert J.
AU - McGovern, Margaret M.
N1 - Funding Information:
Supported by a Mentored Patient-Oriented Research Career Development Award (K23 RR16052-01) from the National Institutes of Health (NIH), a grant (5 MO1 Rrmpd0371) for the Mount Sinai General Clinical Research Center from the National Center for Research Resources, NIH, by NIH grant HD 28607, and by a research grant from the Genzyme Corporation.
PY - 2003/4/1
Y1 - 2003/4/1
N2 - Objectives: To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1). Study design: A cross-sectional analysis of growth was performed in 23 children and adolescents with enzymatically and genotypically confirmed NPD. Liver and spleen volumes were measured by quantitative computed tomography and skeletal age by a wrist radiograph. Results: The mean Z scores for height and weight were -1.24 (29th percentile) and -0.75 (34th percentile). The mean liver and spleen volumes were 2.06 and 13.46 times normal for weight, respectively. Skeletal age was delayed by an average of 2.5 years, and serum IGF-1 level was at or below the 2nd percentile in S of 12 patients. Short stature and low weight were significantly correlated with large organ volumes, delayed bone age, and low IGFq-1 levels. In contrast to patients with other mutations, individuals homozygous for the ΔR608 mutation had normal height and weight, markedly less hepatosplenomegaly and bone age delay, and normal IGF-1 levels. Conclusions: Abnormal linear growth and delayed skeletal maturation are common in children and adolescents with type B NPD; however, homozygosity for ΔR608 is associated with normal growth.
AB - Objectives: To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1). Study design: A cross-sectional analysis of growth was performed in 23 children and adolescents with enzymatically and genotypically confirmed NPD. Liver and spleen volumes were measured by quantitative computed tomography and skeletal age by a wrist radiograph. Results: The mean Z scores for height and weight were -1.24 (29th percentile) and -0.75 (34th percentile). The mean liver and spleen volumes were 2.06 and 13.46 times normal for weight, respectively. Skeletal age was delayed by an average of 2.5 years, and serum IGF-1 level was at or below the 2nd percentile in S of 12 patients. Short stature and low weight were significantly correlated with large organ volumes, delayed bone age, and low IGFq-1 levels. In contrast to patients with other mutations, individuals homozygous for the ΔR608 mutation had normal height and weight, markedly less hepatosplenomegaly and bone age delay, and normal IGF-1 levels. Conclusions: Abnormal linear growth and delayed skeletal maturation are common in children and adolescents with type B NPD; however, homozygosity for ΔR608 is associated with normal growth.
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U2 - 10.1067/mpd.2003.113
DO - 10.1067/mpd.2003.113
M3 - Article
C2 - 12712061
AN - SCOPUS:0037397027
VL - 142
SP - 424
EP - 428
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 4
ER -