ISSN: 2572-4983
Neonatal and Pediatric Medicine
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Recent advances in understanding the pathophysiology and management of cystic fibrosis
22nd World Congress on Pediatrics, Neonatology & Primary Care
Abeer Mohi El-Din Saleh
International Medical Center Hospital, Egypt
ScientificTracks Abstracts: Neonat Pediatr Med
DOI:
Abstract
Although cystic fibrosis is a monogenic, predominantly Caucasian, autosomal recessive disease, increasing numbers of patients with cystic fibrosis are being identified in other large populations. It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The cystic fibrosis trans membrane conductance regulator gene was identified in 1989. It affects multiple organs, including the intestine, sweat glands, pancreas and the reproductive system, but cystic fibrosis lung disease causes most morbidity and leads to premature mortality. It鈥檚 now predicted that children born with cystic fibrosis in the 2000s will survive into their 50s. The focus of this review is to summarize some of the recent advances that have taken place in our understanding of the recent advances in diagnosing and managing cystic fibrosis.Biography
