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Genetic Disorders and Asthma: Coexisting and Differential Diagnosis 

Genetic Disorders and Asthma: Coexisting and Differential Diagnosis
Chapter:
Genetic Disorders and Asthma: Coexisting and Differential Diagnosis
Author(s):

Neetu Talreja

and Ronald Dahl

DOI:
10.1093/med/9780199918065.003.0010
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date: 08 May 2021

Primary ciliary dyskinesia, cystic fibrosis, and α‎1-antitrypsin deficiency are autosomal recessive hereditary diseases. These diseases should always be considered in cases of asthma. The diagnosis and management of these diseases, particularly with asthma, is an important challenge for clinicians. However, the diagnosis of these chronic diseases is evolving with better definition of phenotypic features and expansion of diagnostic tests. Optimizing and expanding access to the nongenetic tests is critical for ensuring a timely and accurate diagnosis. Early diagnostic strategies, better understanding of the complex interactions underlying the pathophysiology of lung disease, and emerging treatments show great promise for the future. The discovery of genetic and biomarker studies that will predict individuals at risk to develop the clinical manifestations of these diseases can lead to more personalized treatment strategies and a better prognosis.

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