Diagnosis of Cystic Fibrosis Beyond Childhood in India

Abstract

Cystic fibrosis (CF) is a life-limiting genetic condition with multisystemic manifestations. However, there are vast phenotypic as well as genotypic variations. This contributes to delay in diagnosis, especially in pancreatic-sufficient patients who may not manifest typical symptomatology. The last decade has witnessed significant breakthroughs in CF therapeutics. This in combination with early diagnosis through newborn screening, and aggressive supportive care can offer near-normal life expectancy for a majority of patients with CF (pwCF) worldwide. Even while addressing disparities in CF care around the world, it is crucial to train medical professionals to suspect and diagnose CF in children as well as in adults. Here, we share our experience of pwCF diagnosed beyond 16 years of age with an aim to highlight the clinical presentations in young adults, the need for screening family members of a newly diagnosed pwCF, and the negative effects of late diagnosis of CF.

Keywords

• cystic fibrosis
• newborn screening
• pancreatic insufficient
• pancreatic sufficient
• patients with cystic fibrosis