Cystic fibrosis in an infant presenting with features of pseudo bartter’s syndrome

Nayak, Dinesh M and Nagesha, KM and Nayak, Chandrika D (2018) Cystic fibrosis in an infant presenting with features of pseudo bartter’s syndrome. Pediatric Oncall Journal, 15 (4). pp. 110-111. ISSN 0973-0958

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Abstract

Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. Even though more than 1000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene, the data from India is limited. Facilities for diagnosis of CF is not easily available across various parts of India even today. A 3 months old male infant presented with severe metabolic alkalosis, hyponatremia and hypokalemia to our hospital with failure to thrive. The clinical presentation was similar to that of Bartter’s syndrome and a diagnosis of CF was confirmed only through genetic analysis with mutations of compound heterozygosity c.1029delC (p.C343) in exon 8 and c.335C>T (p.S1118F) in exon 20 of CFTR gene.

Item Type: Article
Subjects: Medicine > MMMC Manipal > Biochemistry
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 22 Jan 2019 09:19
Last Modified: 22 Jan 2019 09:19
URI: http://eprints.manipal.edu/id/eprint/153088

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