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.