Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva
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DOI：
10.1590/s0004-282x2000000200023
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发表时间：
2000-06-01
影响因子：
1.4
通讯作者：
Moura-Ribeiro, MVL
中科院分区：
文献类型：
--
作者：
Nucci, A;Queiroz, LD;Moura-Ribeiro, MVL
进行性骨化性纤维发育不良是一种罕见的遗传性疾病，其特征是广泛的软组织骨化和四肢先天性斑痕。我们报道了一名男孩，自确诊时 3 岁零 9 个月起，被跟踪观察了 10 年。他出生时患有双侧发育不全的拇外翻和室间隔缺损，32个月大时通过经胸骨入路矫正。随后颈部活动受限并出现异位骨化灶。四种疾病恶化危象采用口服泼尼松和/或其他抗炎药物治疗。在大约六年的时间里，间歇性地服用依替膦酸钠 5 至 10 mg/kg/天，但由于骨质减少而停药。病程持续不断，严重限制运动，包括胸部边缘。一项综述显示，巴西文献中很少有类似的病例报告。我们重新审视诊断标准以及管理和治疗的要点。
Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgous and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest waif. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.