Pulmonary outcome of Alport syndrome with familial diffuse esophageal leiomyomatosis

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...

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Bibliographic Details
Published in:Pediatric pulmonology 2011-06, Vol.46 (6), p.614-616
Main Authors: Livnat, Galit, Best, Lael Anson, Guralnik, Ludmila, Bentur, Lea
Format: Article
Language:English
Subjects:
Adult
Child
Esophageal Neoplasms - genetics
Esophageal Neoplasms - physiopathology
Esophageal Neoplasms - surgery
Esophagectomy
Female
Forced Expiratory Volume - physiology
Humans
Leiomyomatosis - genetics
Leiomyomatosis - physiopathology
Leiomyomatosis - surgery
Male
Nephritis, Hereditary - genetics
Nephritis, Hereditary - physiopathology
Treatment Outcome
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Summary: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.
ISSN:1099-0496
DOI:10.1002/ppul.21413