Table 1.
Initial study: Characteristics of cystic fibrosis patients with (CFLD) and without (CF no LD) severe liver disease
| Variable | Initial study | |
|---|---|---|
| CFLD n = 124 |
CF no LD n = 843 |
|
| Age (yrs) a | ||
| Mean (± SD) | 19.8 (± 7.3) | 26.7 (± 9.6) |
| Median | 18.8 | 23.3 |
| Gender (male) | 88 (71.0%) | 462 (54.8%) |
| Caucasian | 115 (92.7%) | 822 (97.5%) |
| Genotype b | ||
| PI/PI c | 100 (80.7%) | 836 (99.2%) |
| PI/PS c | 5 (4.0%) | 0 (0.0%) |
| PS/PS | 0 (0.0%) | 0 (0.0%) |
| PI/unknown | 16 (12.9%) | 7 (0.8%) |
| unknown/unknown | 3 (2.4%) | 0 (0.0%) |
| Meconium ileus d | 22 (18.2%) | 68 (16.5%) |
| Age of diagnosis of portal hypertension (yrs) e | ||
| Mean (± SD) | 10.3 (± 5.9) | N/A |
| Median | 10 | N/A |
| Range | 0.5 – 26 | N/A |
| Portal hypertension documented by f | ||
| Splenomegaly | 120 (97.1%) | N/A |
| Varices (esophageal, rectal) | 93 (74.6%) | N/A |
| Hypersplenism g | 69 (62.7%) | N/A |
Age at time of enrollment.
CFTR mutations for CFLD patients in initial study: DF508/DF508 56.5%; DF508/PI 19.4%; DF508/unknown 10.5%; PI/PI 4.8%; PI/unknown 2.4%; PI/PS 4.0%; unknown/unknown 2.4%. CFTR mutations for CF no LD patients in initial study: DF508/DF508 92.6%; DF508/PI 5.9%; DF508/unknown 0.7%; PI/PI 0.7%; PI/unknown 0.1%. See eTable 1 for specific CFTR genotypes for CFLD patients.
PI = Pancreatic exocrine insufficient mutation, PS = Pancreatic exocrine sufficient mutation.
Data available from 121 CFLD patients (ages 0–26 years) and 411 CF no LD patients (ages 15–28 years).
Data available from 122 CFLD patients.
Documented using several different imaging techniques; some patients had portal hypertension confirmed by more than one method; all patients tested had findings compatible with multi-lobular cirrhosis.
As defined by platelet count < 100,000/ul; data available on 110 patients.