Diagnostic, treatment and outcome possibilities in achondroplasia.
Med Pharm Rep
; 94(Suppl No 1): S22-S24, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-34527903
ABSTRACT
INTRODUCTION:
Achondroplasia is a common form of chondrodysplasia. It is transmitted by autosomal dominant trait. The disease is determined by mutations in receptor-3 gene of the fibroblast growth factor. The most frequent mutations are c.1138G>A and c.1183G>C; c.1138A. The diagnosis can usually be made on the basis of clinical characteristics and specific features on radiographs. It is not necessary to perform molecular testing in every child with a clinical diagnosis of achondroplasia.The aim of this study is to establish the diagnostic, treatment and outcome possibilities in patients with achondroplasia in our care.METHOD:
The study group consisted of 27 patients with achondroplasia. The method consisted of clinical and radiological examinations. The DNA analasys was performed by PCR-RFLP technique.RESULTS:
80 patients were diagnosed with bone dysplasia; 24 of them were diagnosed (on clinical and radiological basis) with achondroplasia. Out of this group, 16 patients were identified as heterozygotes for G1138A mutation in FGFR3 gene; 3 patients undergoing treatment with somatotropic hormone; the growth rate is improving from 0.1 cm/month to 0.5 cm/month.CONCLUSIONS:
In achondroplasia diagnosis is based on clinical and radiological criteria. It is the first study that reports the prevelance of this mutation in Romania.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article