Pediatric Pulmonary Unit, Meyer Children's Hospital, Haifa, Israel.
Pediatr Pulmonol. 2011 Jun;46(6):614-6. doi: 10.1002/ppul.21413. Epub 2011 Jan 31.
X-linked Alport syndrome is associated in some families with diffuse leiomyomatosis. We describe herein, the pulmonary complications and outcome of three family members (mother, daughter, and son). The three underwent esophagectomy at different ages (22 years, three years, and 15 months respectively). Their current forced expiratory volume in the first second (FEV1) ranged from 33% in the mother to 60% in the daughter and 97% in the son. It is suggested that earlier intervention may lead to improved pulmonary function tests.
X 连锁显性遗传性 Alport 综合征在一些家族中与弥漫性平滑肌瘤病相关。我们在此描述了三位家族成员（母亲、女儿和儿子）的肺部并发症和预后。这三人分别在不同的年龄（22 岁、3 岁和 15 个月）接受了食管切除术。他们目前的第一秒用力呼气量（FEV1）分别为母亲的 33%、女儿的 60%和儿子的 97%。这表明早期干预可能会导致肺功能测试的改善。
