PDF(Pubmed)
Abstract：
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (FGFR3). Pathogenic variants in FGFR3 also cause thanatophoric dysplasia (TD) and achondroplasia. Although the findings of SADDAN and TD during the fetal and neonatal periods are similar, they differ in their long-term prognoses. We conducted FGFR3 analysis in one male patient because of the difficulty in differentiating SADDAN from TD during the neonatal period. We found that the patient had a pathogenic variant, p. Lys650Met, which was similar to that previously reported in patients with SADDAN. Reports on long-term survival in patient with SADDAN are scarce, and there have been no reports of treatment with GH. We administered GH therapy for a markedly short stature. After treatment, his height increased by 4 cm each year for 4 years, the frequency of hospitalizations due to respiratory failure decreased, and the health improved. FGFR3 analysis is useful for diagnosing SADDAN during the early neonatal period. GH therapy may have contributed to the patient\'s long-term survival.
摘要：
伴有发育迟缓和黑棘皮病的严重软骨发育不全（SADDAN）是由成纤维细胞生长因子受体3（FGFR3）的致病性变体引起的骨发育不良。FGFR3中的致病性变异也会导致嗜血性发育不良（TD）和软骨发育不全。尽管胎儿期和新生儿期的SADDAN和TD的发现相似，他们的长期预后不同。我们对一名男性患者进行了FGFR3分析，因为在新生儿期难以区分SADDAN和TD。我们发现病人有致病变异,p.Lys650Met，这与先前报道的SADDAN患者相似。关于SADDAN患者长期生存的报告很少，也没有关于GH治疗的报道。我们给予GH治疗明显身材矮小。治疗后,4年来，他的身高每年增加4厘米，因呼吸衰竭而住院的频率减少，和健康改善。FGFR3分析可用于在新生儿早期诊断SADDAN。GH治疗可能有助于患者的长期生存。
