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Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis

Taro Kogami1, Haruki Uojima1, Takasuke Ebato2

  • 1Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|May 10, 2021
PubMed

Insights

Cartilage-hair hypoplasia (CHH) can lead to biliary cirrhosis due to bile duct issues and altered gut bacteria. This rare complication highlights potential liver disease risks in CHH patients.

Area of Science:

  • Hepatology
  • Immunology
  • Genetics

Background:

  • Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder.
  • CHH is associated with immunodeficiency, leading to recurrent infections.
  • Liver complications are not commonly reported in CHH.

Keywords:
agammaglobulinemiabiliary hypoplasiacartilage-hair hypoplasiachronic intrahepatic cholestasisliver cirrhosis

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