Oral presentations at the XVI National Congress of the Mexican Association of Hepatology
More infoCystic Fibrosis (CF) is a genetic disease characterized by dysfunction of the exocrine glands. Hepatic involvement is the leading non-pulmonary cause of death in CF patients. This paper aims to present the case of a schoolchild with hepatic alterations as the initial clinical manifestation of CF.
Results10-year-old male with a history of sibling death due to liver failure at three years of age, multiple respiratory symptoms in the first two years of life and hospitalization at 3 years of age due to bronchitis. The condition began one year before the assessment with growth arrest and in the last six months with two diarrheal episodes without mucus or blood. On physical examination, weight and height below p5 for age, icteric color, without hepatosplenomegaly, limbs with acropaquia (Image 1). Average bone age of 5-6 years, paraclinical tests with hypertransaminasemia, hypetriglyceridemia and decreased HDL (table 1), normal blood biometry, liver elastography with ARFI 2.1 m/s and liver biopsy with macro and microvesicular steatosis with moderate portoportal fibrosis (image 1-2). Negative approach for infectious hepatitis, Wilson´s disease. 1 alpha-antitrypsin deficiency and lysosomal acid lipase deficiency. Diagnosis of CF with sweat electrolytes of 105 mmol/L was made. Currently under follow-up by gastroenterology and pediatric pulmonology.
DiscussionCF is the most common autosomal recessive disease in the Caucasian population, with multi-organ involvement. Liver disease has a high incidence in the first 10 years of life with 2.5/100 patient-years. However, no CFTR gene mutation has been directly associated with the presence or severity of the liver disease. Clinical presentation varies from mild asymptomatic form to cirrhosis with the need for liver transplantation in these patients. The most common initial suspicion is hepatomegaly and transaminases alteration and laboratory studies and histology alteration. Hepatic fibroelastography represents an emerging method of study for diagnosis, as it represents one of the forms of confirmation of the criteria for liver disease associated with cystic fibrosis. Liver biopsy provides information on the predominant type of lesion (steatosis or focal cirrhosis) and the extent of portal fibrosis. However, it should be taken with caution because of the risk of underestimating the severity of the lesions.
ConclusionsAlthough the liver disease in cystic fibrosis does not represent the initial manifestation, the evaluation and monitoring in these patients are important for prognosis and survival since it can progress to cirrhosis and liver failure.
The authors declare that there is no conflict of interest.
