A step back in time: The basics of CF care still matter!

Abstract

In reading "Predictors of mortality in children with cystic fibrosis," you are taken back to the early to mid-20th century when Dr. Dorothy Andersen discovered cystic fibrosis (CF) 1 and Dr. Paul di Sant'Agnese detected the presence of excessive salt in sweat of those with CF, 2 leading to the development of the sweat test. It was a time when there was both lack of recognition and lack of understanding of the disease. But then you realize you a reading an article from 2021 about a disease that, in the developed world, is well-recognized with established universal newborn screen (NBS), 3 where treatment with cystic fibrosis transmembrane regulator (CFTR) modulators can now address the basic underlying defect, and the median predicted survival in the United States is now 50 years of age. 4 Kaur et al.'s description of the prevalence and morbidity at the All India Institute of Medical Sciences, a large medical center in New Delhi, between 2010 and 2020 describes the consequences of late diagnosis due to lack of recognition; a heartbreaking 18% mortality rate as compared to less than 5% in the United Kingdom. 5 With ~2000 known mutations of the CFTR gene contributing to the clinical spectrum, CF can no longer be classified as a "Caucasian" disease. While F508del continues to be the dominant mutation in the West, 4,6 the current prevalence of F508del in South Asian countries is about 19-34%. 7 The healthcare disparities presented by Kaur et al. are not unique to India, but also seen in other low-and middle-income countries (LMIC). 7 Filho et al. report similar challenges faced in Brazil, South Africa, and Israel, while Bustamante et al. reported disparities in CF-survival in Mexico.