OBJECTIVES: The incidence and severity of growth retardation in children with type 1 Gaucher disease and the response to enzyme replacement therapy with alglucerase were studied. STUDY DESIGN: A retrospective analysis of growth in 99 children and adolescents with type 1 Gaucher disease before treatment, and in 54 of those subjects during treatment, was done. Growth was compared with gender, age, and dosage of replacement enzyme. RESULTS: Linear growth was normal in the first 1 to 2 years of life and then decelerated. Height was at or below the 5th percentile in 50% of all subjects immediately before treatment. The mean z score was -1.49 (95% confidence interval, -1.83 to -1.16), corresponding to the 6.8th percentile for height. Seventy-two percent were below the 50th percentile and 50% were at or below the 5th percentile for mid-parental height (p <0.001). One and one-half years after treatment was started, the estimated mean z score for all subjects was -1.01, which corresponds to the 16th percentile for height. Normal growth was achieved within 4 to 30 months in eight of nine subjects who were at or below the 5th percentile. It occurred only in those receiving higher doses (60 to 120 U/kg per 4-week period) of alglucerase. There was a significant association between z scores for height before treatment and liver enlargement (r= 0.57; p < 0.01). CONCLUSIONS: Half of the subjects who manifest type 1 Gaucher disease in childhood have growth retardation. Treatment with adequate amounts of modified enzyme replacement was effective in normalizing linear growth.
OBJECTIVES: The incidence and severity of growth retardation in children with type 1 Gaucher disease and the response to enzyme replacement therapy with alglucerase were studied. STUDY DESIGN: A retrospective analysis of growth in 99 children and adolescents with type 1 Gaucher disease before treatment, and in 54 of those subjects during treatment, was done. Growth was compared with gender, age, and dosage of replacement enzyme. RESULTS: Linear growth was normal in the first 1 to 2 years of life and then decelerated. Height was at or below the 5th percentile in 50% of all subjects immediately before treatment. The mean z score was -1.49 (95% confidence interval, -1.83 to -1.16), corresponding to the 6.8th percentile for height. Seventy-two percent were below the 50th percentile and 50% were at or below the 5th percentile for mid-parental height (p <0.001). One and one-half years after treatment was started, the estimated mean z score for all subjects was -1.01, which corresponds to the 16th percentile for height. Normal growth was achieved within 4 to 30 months in eight of nine subjects who were at or below the 5th percentile. It occurred only in those receiving higher doses (60 to 120 U/kg per 4-week period) of alglucerase. There was a significant association between z scores for height before treatment and liver enlargement (r= 0.57; p < 0.01). CONCLUSIONS: Half of the subjects who manifest type 1 Gaucher disease in childhood have growth retardation. Treatment with adequate amounts of modified enzyme replacement was effective in normalizing linear growth.
Authors: Paige Kaplan; Hagit Baris; Linda De Meirleir; Maja Di Rocco; Amal El-Beshlawy; Martina Huemer; Ana Maria Martins; Ioana Nascu; Marianne Rohrbach; Lynne Steinbach; Ian J Cohen Journal: Eur J Pediatr Date: 2012-07-08 Impact factor: 3.183
Authors: Giovanni Ciana; Laura Deroma; Anna Martina Franzil; Andrea Dardis; Bruno Bembi Journal: J Inherit Metab Dis Date: 2012-03-23 Impact factor: 4.982
Authors: Antonio Baldellou; Generoso Andria; Pauline E Campbell; Joel Charrow; Ian J Cohen; Gregory A Grabowski; Chris M Harris; Paige Kaplan; Kieran McHugh; Eugen Mengel; Ashok Vellodi Journal: Eur J Pediatr Date: 2003-12-16 Impact factor: 3.183
Authors: Gregory A Grabowski; Generoso Andria; Antonio Baldellou; Pauline E Campbell; Joel Charrow; Ian J Cohen; Chris M Harris; Paige Kaplan; Eugen Mengel; Miguel Pocovi; Ashok Vellodi Journal: Eur J Pediatr Date: 2003-12-16 Impact factor: 3.183
Authors: Margaret M McGovern; Melissa P Wasserstein; Roberto Giugliani; Bruno Bembi; Marie T Vanier; Eugen Mengel; Scott E Brodie; David Mendelson; Gwen Skloot; Robert J Desnick; Noriko Kuriyama; Gerald F Cox Journal: Pediatrics Date: 2008-07-14 Impact factor: 7.124