Bouali Houda, Latrech Hanane
Pediatr Endocrinol Rev. 2015 Jun;12(4):388-95.
Achondroplasia is a human bone genetic disorder of the growth plate and is the most common form of inherited disproportionate short stature. It is inherited as an autosomal dominant disease with essentially complete penetrance. Of these most have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) which is a negative regulator of bone growth. The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration. The majority of achondroplasts have a normal intelligence, but many social and medical complications may compromise a full and productive life. Some of them have serious health consequences related to hydrocephalus, craniocervical junction compression, or upper-airway obstruction. In this article, we discuss a number of treatments from the surgical limb lengthening approach and the Recombinant Growth Hormone (rhGH) treatment, to future treatments, which include the Natriuretic Peptide C-type (CNP). The discussion is a comparative study of the complications and drawbacks of various experiments using numerous strategies.
软骨发育不全是一种影响生长板的人类骨骼遗传疾病,是遗传性身材不成比例矮小最常见的形式。它作为一种常染色体显性疾病遗传,几乎完全显性。其中大多数在成纤维细胞生长因子受体3(FGFR3)基因中存在相同的点突变,该基因是骨生长的负调节因子。软骨发育不全的临床和放射学特征很容易识别;包括身材不成比例矮小伴近端肢体短小、巨头畸形伴额部隆起、面中部发育不全、腰椎前凸和三叉手畸形。大多数软骨发育不全患者智力正常,但许多社会和医疗并发症可能会影响充实而有意义的生活。其中一些人有与脑积水、颅颈交界区受压或上呼吸道梗阻相关的严重健康后果。在本文中,我们讨论了多种治疗方法,从手术肢体延长方法、重组生长激素(rhGH)治疗到未来的治疗方法,包括C型利钠肽(CNP)。该讨论是对使用多种策略的各种实验的并发症和缺点的比较研究。