| Texto completo | |
| Autor(es): Mostrar menos - |
Malaquias, Alexsandra C.
[1, 2]
;
Noronha, Renata M.
[1, 2]
;
Souza, Thaiana T. O.
[2]
;
Homma, Thais K.
[1, 3]
;
Funari, Mariana F. A.
[3]
;
Yamamoto, Guilherme L.
[4]
;
Silva, Fernanda Viana
[1]
;
Moraes, Michelle B.
[4]
;
Honjo, Rachel S.
[4]
;
Kim, Chong A.
[4]
;
Nesi-Franca, Suzana
[5]
;
Carvalho, Julienne A. R.
[5]
;
Quedas, Elisangela P. S.
[1]
;
Bertola, Debora R.
[4]
;
Jorge, Alexander A. L.
[1, 3]
Número total de Autores: 15
|
| Afiliação do(s) autor(es): | [1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet, LIM 25, Sao Paulo - Brazil
[2] Fac Ciencias Med Santa Casa Sao Paulo, Dept Pediat, Sao Paulo - Brazil
[3] FMUSP, Hosp Clin, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Sao Paulo - Brazil
[4] FMUSP, Inst Crianca, Unidade Genet, Sao Paulo - Brazil
[5] Univ Fed Parana, Unidade Endocrinol Pediat, Dept Pediat, Curitiba, Parana - Brazil
Número total de Afiliações: 5
|
| Tipo de documento: | Artigo Científico |
| Fonte: | Hormone Research in Paediatrics; v. 91, n. 4, p. 252-261, 2019. |
| Citações Web of Science: | 0 |
| Resumo | |
Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outcomes were changes in growth velocity (GV) and height standard deviation scores (SDS) for normal (height-CDC SDS) and Noonan standards (height-NS SDS). Results: The pretreatment chronological age was 10.3 +/- 3.5 years. Height-CDC SDS and height-NS SDS were -3.1 +/- 0.7 and -0.5 +/- 0.6, respectively. PTPN11+ patients had a better growth response than PTPN11- patients. GV SDS increased from -1.2 +/- 1.8 to 3.1 +/- 2.8 after the first year of therapy in PTPN11+ patients, and from -1.9 +/- 2.6 to -0.1 +/- 2.6 in PTPN11- patients. The gain in height-CDC SDS during the first year was higher in PTPN11+ than PTPN11- (0.6 +/- 0.4 vs. 0.1 +/- 0.2, p = 0.008). Similarly, the gain was observed in height-NS SDS (0.6 +/- 0.3 vs. 0.2 +/- 0.2, respectively, p < 0.001). Among the patients that reached adult height (n = 17), AH-CDC SDS and AH-NS SDS were -2.1 +/- 0.7 and 0.7 +/- 0.8, respectively. The total increase in height SDS was 1.3 +/- 0.7 and 1.5 +/- 0.6 for normal and NS standards, respectively. Conclusions: This study supports the advantage of rhGH therapy on adult height in PTPN11+ patients. In comparison, PTPN11- patients showed a poor response to rhGH. However, this PTPN11- group was small, preventing an adequate comparison among different genotypes and no guarantee of response to therapy in genes besides PTPN11. (C) 2019 S. Karger AG, Basel (AU) | |
| Processo FAPESP: | 14/09410-0 - Estudo do metabolismo de lipídios e carboidratos em pacientes com Síndrome de Noonan |
| Beneficiário: | Alexsandra Christianne Malaquias de Moura Ribeiro |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |