Cystic fibrosis in India

Area of Science:

• Medical Genetics
• Pediatric Pulmonology
• Global Health

Background:

• Cystic fibrosis (CF) was historically considered rare in the Indian subcontinent.
• Recent evidence suggests CF prevalence in India, though its exact magnitude remains unknown.
• Migrant Indian populations show CF frequencies similar to Western countries.

Purpose of the Study:

• To investigate the occurrence and characteristics of cystic fibrosis in Indian children.
• To highlight diagnostic and management challenges of CF in India.
• To identify factors associated with early mortality in Indian CF patients.

Main Methods:

• Review of existing literature and studies on Indian populations.
• Analysis of clinical features, diagnostic challenges, and mutation profiles.
• Identification of determinants for early mortality in CF.

Main Results:

• CF in Indian children presents with similar clinical features to Caucasian populations but is diagnosed late and at advanced stages.
• Malnutrition, Pseudomonas colonization, and pseudo-Bartter syndrome are more frequent at diagnosis.
• The common F508del mutation occurs in 19-34% of Indian children, with a heterogeneous mutation profile.
• Diagnostic facilities and trained manpower are limited, complicating management.
• Severe malnutrition, Pseudomonas colonization, frequent respiratory infections, and early symptom onset are linked to early death.

Conclusions:

• Cystic fibrosis is present in India, necessitating increased awareness among pediatricians.
• Development of accessible diagnostic facilities and localized management protocols is essential.
• Addressing the precise magnitude and improving care are critical for Indian CF patients.