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Pulmonary outcome of alport syndrome with familial diffuse esophageal leiomymatosis
Author(s) -
Livnat Galit,
Best Lael Anson,
Guralnik Ludmila,
Bentur Lea
Publication year - 2011
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.21413
Subject(s) - medicine , daughter , pulmonary function testing , alport syndrome , pediatrics , surgery , glomerulonephritis , evolutionary biology , biology , kidney
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. Pediatr. Pulmonol. 2011; 46:614–616. © 2011 Wiley‐Liss, Inc.