Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency.
Growth Horm IGF Res
; 60-61: 101419, 2021.
Article
em En
| MEDLINE
| ID: mdl-34358737
ABSTRACT
PAPP-A2 deficiency is a novel syndrome characterized by short stature due to low IGF bioactivity, skeletal abnormalities and decreased bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) for 1 year demonstrated to increase growth velocity and BMD, without reported adverse effects, but data regarding the long-term efficacy and safety of rhIGF-1 administration in this entity has not yet been reported. Two Spanish siblings with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25*) were treated with rhIGF-1 twice daily for six years. Growth velocity continued to increase and both patients achieved their target height. Free IGF-1 concentrations increased notably after rhIGF-1 administration, with serum IGFBP-3, IGFBP-5 and ALS levels also being higher during treatment. BMD was progressively normalized and an increase in lean mass was also noted during treatment. No episodes of hypoglycemia or any other adverse effects were documented. An increase in the growth of kidney and spleen length was observed in one of the patients.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteína Plasmática A Associada à Gravidez
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Estatura
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Proteínas Recombinantes
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Fator de Crescimento Insulin-Like I
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Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina
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Hormônio do Crescimento Humano
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Transtornos do Crescimento
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Growth Horm IGF Res
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Espanha