Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis: A Case Report

Taro Kogami; Haruki Uojima; Takasuke Ebato; Yuki Bando; Akiyoshi Hoshino; Makoto Saegusa; Makoto Ohbu; Shuichiro Iwasaki; Naohisa Wada; Kousuke Kubota; Yoshiaki Tanaka; Hisashi Hidaka; Takahide Nakazawa; Akitaka Shibuya; Wasaburo Koizumi

doi:10.2169/internalmedicine.7483-21

This article has now been updated. Please use the final version.

Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis: A Case Report

Taro Kogami, Haruki Uojima, Takasuke Ebato, Yuki Bando, Akiyoshi Hoshino, Makoto Saegusa, Makoto Ohbu, Shuichiro Iwasaki, Naohisa Wada, Kousuke Kubota, Yoshiaki Tanaka, Hisashi Hidaka, Takahide Nakazawa, Akitaka Shibuya, Wasaburo Koizumi

Author information

Taro Kogami
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Haruki Uojima
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Takasuke Ebato
Department of Pediatrics, Kitasato University School of Medicine, Japan
Yuki Bando
Department of Pediatrics, Kitasato University School of Medicine, Japan
Akiyoshi Hoshino
Department of Pathology, Kitasato University School of Medicine, Japan
Makoto Saegusa
Department of Pathology, Kitasato University School of Medicine, Japan
Makoto Ohbu
Department of Pathology, Kitasato Institute Hospital, Japan
Shuichiro Iwasaki
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Naohisa Wada
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Kousuke Kubota
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Yoshiaki Tanaka
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Hisashi Hidaka
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Takahide Nakazawa
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Akitaka Shibuya
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan
Wasaburo Koizumi
Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan

Keywords: cartilage-hair hypoplasia, chronic intrahepatic cholestasis, liver cirrhosis, agammaglobulinemia, biliary hypoplasia

JOURNAL OPEN ACCESS Advance online publication

Article ID: 7483-21

DOI https://doi.org/10.2169/internalmedicine.7483-21

The final version of this article is now available: Vol. 60 (2021), No. 21 pp. 3427-3433

Details

Abstract

We herein report a rare case of cartilage-hair hypoplasia (CHH) complicated with liver cirrhosis. A 20-year-old Japanese man with CHH was found incidentally to have liver cirrhosis and an esophageal varix. This patient had been treated for infections due to immunodeficiency since early childhood. He ultimately died of liver failure at 31 years of age. An autopsy revealed an abnormality of the interlobular bile ducts and intrahepatic cholestasis. Liver cirrhosis was thought to have been caused by chronic intrahepatic cholestasis due to biliary duct hypoplasia and changes in the intestinal microbiome. Therefore, CHH may cause biliary cirrhosis due to multiple effects.

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