Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax
Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax
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DOI：
10.2169/internalmedicine.54.4947
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发表时间：
2015-01-01
影响因子：
1.2
通讯作者：
Nakano, Yasutaka
中科院分区：
文献类型：
--
作者：
Nakagawa, Hiroaki;Wada, Hiroshi;Nakano, Yasutaka
一名17岁青少年因双侧气胸住院。经导管扩张双肺后，患者完全康复出院。他有结肠穿孔的病史。ehers - danlos综合征（EDS）因结肠穿孔和气胸合并而被怀疑，在一项基因研究中发现COL3A1基因c.1511g>突变后，EDS IV型被证实。这是第一例由EDS IV型引起的双侧气胸。临床医生在诊断双侧气胸时应结合不同的既往病史和影像学表现考虑EDS IV型。
A 17-year-old teen was hospitalized with bilateral pneumothorax. After the bilateral lungs were expanded using catheter tubes, he fully recovered and he was discharged from our hospital. He had a history of colon perforation. Ehlers-Danlos syndrome (EDS) was suspected due to the combination of colon perforation and pneumothorax, and EDS type IV was confirmed after a genetic study identified a c.1511g>a mutation in the COL3A1 gene. This is the first report of bilateral pneumothorax caused by EDS type IV. Clinicians should consider EDS type IV in the differential diagnosis for bilateral pneumothorax in conjunction with distinct previous histories and radiological findings.