Diagnostic, treatment and outcome possibilities in achondroplasia

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.

Keywords: Romania; achondroplasia; child; chondrodysplasia; molecular diagnostic techniques.