Assessment of cystic fibrosis related liver disease in a pediatric cohort.

BACKGROUND

Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge.

METHODS

Cross-sectional, descriptive study from 10 Spanish cystic fibrosis units. Clinical and biochemical data obtained. Patients categorized into 3 groups according to liver involvement based on ESPGHAN 2017 criteria. Liver stiffness assessed by transient elastography (TE) and findings from abdominal ultrasound recorded. Statistics performed using SPSS v25.0.

RESULTS

We obtained hepatic TE data from 155 pediatric CF patients. Forty-four classified as CFRLD, 38 (86%) had CFRLD without cirrhosis and 6 (14%) had cirrhosis. Fourteen patients without CFRLD (12%) had ultrasound abnormalities. Mean liver elastography value (kPa) was 4.7 (3.5-5.3) in non-CFRLD and 6.09 (4.4-6.7) in CFRLD (p=0.01; T Student [T]).

CONCLUSIONS

CFRLD is common in children with CF. Transient elastography is a useful method for diagnosis and follow-up, as higher values of TE are found in patients with CFRLD.