Results
This study included 50 cases, sweat test was 73-159 mmol/L, 80% of the patients had productive cough, 46% had dyspnea, 90% had steatorrhea, 20% had CFRD and 62% of patients had BMI at the <3rd%. There was a positive family history of CF in 32% of the total patient population (16 patients). Nineteen patients (38% ) out of the 50 patients were diagnosed with CFLD (Table 1). Seven out 19 (37%) showed liver abnormality through abnormal biochemical labs and ultrasound abnormalities while 12 (63%) had clinical abnormalities, in addition. Compared the CFLD cohort (19 patients) to the non-CFLD cohort (31 patients), Liver involvement was significantly correlated with male sex, early onset of disease, longer duration of illness, and higher mortality rate with p-value< 0.05, while there was no substantial difference between both groups with respect to consanguinity with p-value 0.34. It was noted that sweat chloride test levels were higher in the CFLD group (Table 1).
There were differences in genetic mutations between both cohorts, with class I and II mutations more frequent in the CFLD cohort with a p-value <0.05, while class V mutation was more prevalent in the non-CFLD cohort with a p-value <0.05. F508del homozygous was the most common mutation in both groups representing 64.3% of the CFLD cases and 33.3% of the non- CFLD cases (Table 2).
Table 3 shows a statistically significant correlation between CFLD and gender, duration of illness > 5 years, weight and height < 5th percentile, early onset of the disease ≤ 9 months, clinically severe disease, class I or II mutations, non-compliance to pancreatic enzyme replacement therapy as well as fat-soluble vitamins while there was no statistically significant association with Neonatal Intensive Care Unit (NICU) admission due to meconium ileus.
Using Shwachman- Kulczycki score, there was significantly severe disease involvement in CFLD cases (63.2%) while in non-CFLD cases the degree of severe disease was only 16.1% with P-value < 0.01. Most non-CFLD cases presented with mild to moderate disease.