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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kogami, Taro, Uojima, Haruki, Ebato, Takasuke, Bando, Yuki, Hoshino, Akiyoshi, Saegusa, Makoto, Ohbu, Makoto, Iwasaki, Shuichiro, Wada, Naohisa, Kubota, Kousuke, Tanaka, Yoshiaki, Hidaka, Hisashi, Nakazawa, Takahide, Shibuya, Akitaka, Koizumi, Wasaburo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8627820/
https://www.ncbi.nlm.nih.gov/pubmed/33967143
http://dx.doi.org/10.2169/internalmedicine.7483-21
_version_ 1784606892036718592
author Kogami, Taro
Uojima, Haruki
Ebato, Takasuke
Bando, Yuki
Hoshino, Akiyoshi
Saegusa, Makoto
Ohbu, Makoto
Iwasaki, Shuichiro
Wada, Naohisa
Kubota, Kousuke
Tanaka, Yoshiaki
Hidaka, Hisashi
Nakazawa, Takahide
Shibuya, Akitaka
Koizumi, Wasaburo
author_facet Kogami, Taro
Uojima, Haruki
Ebato, Takasuke
Bando, Yuki
Hoshino, Akiyoshi
Saegusa, Makoto
Ohbu, Makoto
Iwasaki, Shuichiro
Wada, Naohisa
Kubota, Kousuke
Tanaka, Yoshiaki
Hidaka, Hisashi
Nakazawa, Takahide
Shibuya, Akitaka
Koizumi, Wasaburo
author_sort Kogami, Taro
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8627820
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher The Japanese Society of Internal Medicine
record_format MEDLINE/PubMed
spelling pubmed-86278202021-12-10 Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis Kogami, Taro Uojima, Haruki Ebato, Takasuke Bando, Yuki Hoshino, Akiyoshi Saegusa, Makoto Ohbu, Makoto Iwasaki, Shuichiro Wada, Naohisa Kubota, Kousuke Tanaka, Yoshiaki Hidaka, Hisashi Nakazawa, Takahide Shibuya, Akitaka Koizumi, Wasaburo Intern Med Case Report 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. The Japanese Society of Internal Medicine 2021-05-07 2021-11-01 /pmc/articles/PMC8627820/ /pubmed/33967143 http://dx.doi.org/10.2169/internalmedicine.7483-21 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Kogami, Taro
Uojima, Haruki
Ebato, Takasuke
Bando, Yuki
Hoshino, Akiyoshi
Saegusa, Makoto
Ohbu, Makoto
Iwasaki, Shuichiro
Wada, Naohisa
Kubota, Kousuke
Tanaka, Yoshiaki
Hidaka, Hisashi
Nakazawa, Takahide
Shibuya, Akitaka
Koizumi, Wasaburo
Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title_full Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title_fullStr Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title_full_unstemmed Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title_short Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
title_sort cartilage-hair hypoplasia complicated with liver cirrhosis due to chronic intrahepatic cholestasis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8627820/
https://www.ncbi.nlm.nih.gov/pubmed/33967143
http://dx.doi.org/10.2169/internalmedicine.7483-21
work_keys_str_mv AT kogamitaro cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT uojimaharuki cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT ebatotakasuke cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT bandoyuki cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT hoshinoakiyoshi cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT saegusamakoto cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT ohbumakoto cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT iwasakishuichiro cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT wadanaohisa cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT kubotakousuke cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT tanakayoshiaki cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT hidakahisashi cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT nakazawatakahide cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT shibuyaakitaka cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis
AT koizumiwasaburo cartilagehairhypoplasiacomplicatedwithlivercirrhosisduetochronicintrahepaticcholestasis

Ejemplares similares