Demographic, clinical, and microbiological characteristics of cystic fibrosis patients at a referral center in southeastern Iran (2021–2024): a retrospective cross-sectional study

Cystic fibrosis (CF) is an autosomal recessive disorder leading to progressive pulmonary disease and multi-organ complications. Regional differences in clinical and microbiological profiles necessitate local characterization to optimize care. We aimed to describe the demographic, clinical, nutritional, cardiac, and microbiological features of CF patients attending Afzalipour Hospital, Kerman, Iran. In this retrospective cross-sectional study, all patients with confirmed CF (positive sweat chloride > 60 mEq/L and/or pathogenic CFTR mutations) who attended the pediatric clinic between March 2021 and March 2024 were enrolled. Data on demographics, sweat test, growth, chest CT, echocardiography, respiratory cultures, and metabolic complications were extracted from medical records. Of 69 patients, 40 (58.0%) were male. The mean age at diagnosis was 44.41 ± 27.13 months (median: 14.0 months; IQR: 4.0–48.0 months), indicating a relatively late age at diagnosis in this cohort. Mean sweat chloride was 94.04 ± 29.80 mEq/L. Clinically documented failure to thrive (FTT) was present in 53 patients (76.8%). Among age-eligible patients, standardized anthropometric z-scores indicated moderate-to-severe undernutrition: weight-for-age Z-score (WAZ) was − 2.31 ± 0.89 (<10 years, n=14), height-for-age Z-score (HAZ) was − 1.42 ± 1.21 (5–19 years, n=41), and BMI-for-age Z-score (BMIZ) was − 2.18 ± 0.94 (5–19 years, n=41). Among patients aged ≥ 20 years, mean BMI was 17.1 ± 5.6 kg/m 2 (n = 11). Chest CT showed pulmonary complications in 36 (52.2%), predominantly bronchiectasis in 35 (50.7%). Elevated systolic pulmonary artery pressure (SPAP) was noted in 5 (7.2%), and left ventricular dysfunction in 10 (14.5%). Respiratory cultures were positive in 55.1%; Pseudomonas aeruginosa (43.5%) and Staphylococcus aureus (27.5%) were the most common isolates. CF-related diabetes and liver cirrhosis each occurred in 2 patients (2.9%). This cohort exhibits substantial pulmonary and nutritional morbidity, marked by frequent bronchiectasis, growth failure, and colonization with classic CF pathogens despite a relatively young median age. Late diagnosis and limited molecular characterization underline the need for enhanced diagnostic strategies and multidisciplinary care.