title: Liver cirrhosis and portal hypertension in cystic fibrosis.
abstract: BACKGROUND
  As the expected survival improves in individuals with the cystic fibrosis (CF), so they may be faced with a number of medical complications.
  
  
  OBJECTIVE
  The aim of this study was to analyze the prevalence of liver cirrhosis in our CF population as well as the clinical and genetic characteristics of these patients.
  
  
  METHODS
  All patients older than 2 years (n = 96) were screened for liver disease. Liver cirrhosis was defined by ultrasonographic findings of distinct heterogeneity of liver parenchyma and nodular liver surface and/or by liver biopsy findings. Enlarged spleen, distended portal vein and abnormal portal venous flow indicated portal hypertension. Clinical and genotype data were analyzed.
  
  
  RESULTS
  Sixteen patients were found to have liver cirrhosis, three of them with portal hypertension. All patients had pancreatic insufficiency. Nutritional status expressed as standard deviation score (Z score) for weight, height, and body mass index was as follows: zW = -0.40 +/- 1.24, zH = -0.83 +/- 1.02, and BMI = 20.1 +/- 2.3. CF patients with liver cirrhosis generally had mild-to-moderate lung disease, with average FVC and FEV1 values of 97.1 +/- 16.5% of predicted and 87.9 +/- 23.5% of predicted, respectively. Genetic analysis showed high frequency of F508del mutation in the group with cirrhosis (90.6%).
  
  
  CONCLUSIONS
  The prevalence of liver cirrhosis in our CF population older than 2 years was 16.6%. Patients with pancreatic insufficiency and severe CFTR mutations, especially F508del, were exposed to higher risk of developing liver cirrhosis. Liver cirrhosis has no significant impact on the pulmonary function and the nutritional status, until the end-stage liver disease.
authors: University Children's Clinic, Skopje, Republic of Macedonia. stojkaf@yahoo.com
authors: Stojka
authors: S
authors: Fustik
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology*; D005260:Female; D005838:Genotype; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology*; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D009752:Nutritional Status; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator