Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene
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DOI：
10.1183/09031936.02.00219202
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发表时间：
2002-01-01
影响因子：
24.3
通讯作者：
Kuriyama, T
中科院分区：
文献类型：
--
作者：
Watanabe, A;Kawabata, Y;Kuriyama, T
Ehler-Danlos综合征IV型(EDS IV)是由COL3A1基因突变引起的III型前胶原蛋白紊乱所致。通过证明培养的皮肤成纤维细胞合成了异常的III型前胶原分子或鉴定了COL3A1基因的突变，证实了这一诊断。作者报告了一例由COL3A1基因点突变引起的16岁女性的EDS IV。反复咯血和肺空洞形成是肺部受累的证据。然而，EDS IV的胸外表现大多缺失。据作者所知，所有先前报道的呼吸道疾病的Ehler-Danlos综合征IV患者都有典型的Ehler-Danlos综合征IV的表现或病史。在本病例中，结缔组织易碎性被怀疑是由于在肺活检标本中观察到的组织撕裂，诊断始于这一关键发现。
Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3A1 gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene.The authors report a case of EDS IV caused by a novel point mutation in the COL3A1 gene in a 16-yr-old female. Recurrent haemoptysis and cavitary formation of the lung were evidence of pulmonary involvement. However, extrathoracic manifestations of EDS IV were mostly absent.To the best of the authors' knowledge, all previously reported Ehlers-Danlos syndrome IV patients with respiratory disease had the characteristic findings or histories of Ehlers-Danlos syndrome IV. In the present case, connective tissue friability was suspected due to tissue laceration observed in the biopsied lung specimen, and the diagnosis was made beginning from this pivotal finding.