title: Pulmonary outcome of Alport syndrome with familial diffuse esophageal leiomyomatosis.
abstract: 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.
authors.affiliation: Pediatric Pulmonary Unit, Meyer Children's Hospital, Haifa, Israel.
authors.forename: Galit
authors.initials: G
authors.lastname: Livnat
authors.forename: Lael Anson
authors.initials: LA
authors.lastname: Best
authors.forename: Ludmila
authors.initials: L
authors.lastname: Guralnik
authors.forename: Lea
authors.initials: L
authors.lastname: Bentur
mesh_terms: D000328:Adult; D002648:Child; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D016629:Esophagectomy; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000503:physiopathology; D016896:Treatment Outcome