Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis (CF) is a multisystem disease characterized by chronic pulmonary infection, bronchiectasis, exocrine pancreatic insufficiency and elevated sweat chloride level. It is commonly considered as a pediatric disease. But it is now being diagnosed in increasing number of adults due to increased survival from availability of potent antibiotics, nutritional facility and diagnosis of mild cases which were unrecognized previously. CF is rarely reported from India and its adult presentation is rarer. Our case, a Hindu female from West Bengal, India was diagnosed to have CF at the age of 29 years. She had chronic cough and wheezing since childhood being treated as asthmatic patient. She had poor nutrional status, short stature and sexual infantilism. She had premature cataract. Because of chronic cough and expectoration we performed HRCT scan of thorax which revealed bilateral bronchiectasis. She had bilateral maxillary sinusitis and hypoplastic frontal sinus. Repeated sweat chloride tests revealed high values suggestive of CF. CF should be considered in differential diagnosis of adults with bronchiectasis and chronic sinusitis or child with bronchial asthma. High level of awareness is needed to diagnose CF in India, because of its rarity.
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PMID:Adult cystic fibrosis--a rare diagnosis from India. 2340 23