NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE

Authors

  • Joana Rodrigues Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Ana Azevedo Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Susana Tavares Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Cristina Rocha Pediatric Department, Centro Hospitalar Entre o Douro e Vouga
  • Ermelinda Santos Silva Pediatric Gastroenterology Departament, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v25.i2.9524

Keywords:

APOB gene, Children, Familial hypobetalipoproteinemia, Non-alcoholic fatty liver disease, Nonalcoholic steatohepatitis

Abstract

Background: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis.

Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists.

Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.

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Published

2016-06-21

How to Cite

1.
Rodrigues J, Azevedo A, Tavares S, Rocha C, Silva ES. NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE. REVNEC [Internet]. 2016Jun.21 [cited 2022Aug.18];25(2):104-7. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/9524

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