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

被引：0

作者：

Kogami, Taro ^{[1
]}

Uojima, Haruki ^{[1
]}

Ebato, Takasuke ^{[2
]}

Bando, Yuki ^{[2
]}

Hoshino, Akiyoshi ^{[3
]}

Saegusa, Makoto ^{[3
]}

Ohbu, Makoto ^{[4
]}

Iwasaki, Shuichiro ^{[1
]}

Wada, Naohisa ^{[1
]}

Kubota, Kousuke ^{[1
]}

Tanaka, Yoshiaki ^{[1
]}

Hidaka, Hisashi ^{[1
]}

Nakazawa, Takahide ^{[1
]}

Shibuya, Akitaka ^{[1
]}

Koizumi, Wasaburo ^{[1
]}

机构：

[1] Kitasato Univ, Sch Med, Dept Gastroenterol, Internal Med, Tokyo, Japan

[2] Kitasato Univ, Sch Med, Dept Pediat, Tokyo, Japan

[3] Kitasato Univ, Sch Med, Dept Pathol, Tokyo, Japan

[4] Kitasato Inst Hosp, Dept Pathol, Tokyo, Japan

来源：

INTERNAL MEDICINE | 2021年 / 60卷 / 21期

关键词：

cartilage-hair hypoplasia; chronic intrahepatic cholestasis; liver cirrhosis; agammaglobulinemia; biliary hypoplasia; JAPANESE PATIENTS; RMRP MUTATIONS; DIAGNOSIS;

D O I：

10.2169/internalmedicine.7483-21

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：3427 / 3433

页数：7

共 22 条

[1] Altered Microbiome in Patients With Cirrhosis and Complications
Acharya, Chathur
Bajaj, Jasmohan S.
[J]. CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2019, 17 (02) : 307 - 321
[2] Charlton MR, 1993, LIVER TRANSPL SURG, V3, P359
[3] Cartilage-hair hypoplasia syndrome: Implications for prenatal diagnosis
Dungan, JS
Emerson, DS
Phillips, OP
Shulman, LP
[J]. FETAL DIAGNOSIS AND THERAPY, 1996, 11 (06) : 398 - 401
[4] Heidelbaugh JJ, 2006, AM FAM PHYSICIAN, V74, P756
[5] Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
Hirose, Yuichiro
Nakashima, Eiji
Ohashi, Hirofumi
Mochizuki, Hiroshi
Bando, Yuki
Ogata, Tsutomu
Adachi, Masanori
Toba, Emi
Nishimura, Gen
Ikegawa, Shiro
[J]. JOURNAL OF HUMAN GENETICS, 2006, 51 (08) : 706 - 710
[6] T cell subsets and T cell function in cartilage-hair hypoplasia
Kooijman, R
VanderBurgt, CJAM
Weemaes, CMR
Haraldsson, A
Scholtens, EJ
Zegers, BJM
[J]. SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 1997, 46 (02) : 209 - 215
[7] Novel Mutation in Boy With Cartilage-hair Hypoplasia
Lin, I-Chun
Yu, Hong-Ren
Lin, Ying-Jui
Wang, Tzu-Jou
[J]. PEDIATRICS AND NEONATOLOGY, 2010, 51 (06) : 326 - 329
[8] Increased incidence of cancer in patients with cartilage-hair hypoplasia
Mäkitie, O
Pukkala, E
Teppo, L
Kaitila, I
[J]. JOURNAL OF PEDIATRICS, 1999, 134 (03) : 315 - 318
[9] CARTILAGE-HAIR HYPOPLASIA - CLINICAL MANIFESTATIONS IN 108 FINNISH PATIENTS
MAKITIE, O
KAITILA, I
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (03) : 211 - 217
[10] Increased mortality in cartilage-hair hypoplasia
Mäkitie, O
Pukkala, E
Kaitila, I
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 2001, 84 (01) : 65 - 67

← 1 2 3 →