Laboratory of Clinical Infectious Diseases, SAIC-Frederick, Inc. National Cancer Institute-Frederick, Frederick, Maryland, USA.
Int J Tuberc Lung Dis. 2012 Apr;16(4):561-3. doi: 10.5588/ijtld.11.0301.
Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe a novel FBN2 mutation in a woman with CCA who also had pulmonary non-tuberculous mycobacteria (NTM) infection. The population with pulmonary NTM infections shares phenotypic features with CCA, such as elongated body habitus, scoliosis and pectus deformities. While it is unlikely that FBN2 defects account for susceptibility to NTM infection in the majority of cases, the overlap between these two diseases suggests some shared pathophysiology.
先天性挛缩性蜘蛛指（趾）畸形（CCA）是由原纤维蛋白 2 基因（FBN2）突变引起的，该基因对于微纤维结构至关重要。受影响的个体可能有挛缩、胸廓畸形、脊柱侧凸、耳朵折叠异常和四肢细长。我们描述了一位患有 CCA 的女性的新型 FBN2 突变，她还患有非结核分枝杆菌（NTM）肺部感染。患有肺部 NTM 感染的人群与 CCA 具有相似的表型特征，如身材细长、脊柱侧凸和鸡胸畸形。虽然 FBN2 缺陷不太可能导致大多数情况下对 NTM 感染的易感性，但这两种疾病之间的重叠表明存在一些共同的病理生理学机制。
