PMID- 37762919
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231003
IS  - 2077-0383 (Print)
IS  - 2077-0383 (Electronic)
IS  - 2077-0383 (Linking)
VI  - 12
IP  - 18
DP  - 2023 Sep 15
TI  - Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in 
      Japanese Children and Young Adults with Benign Recurrent Intrahepatic 
      Cholestasis: A Multicenter Study.
LID - 10.3390/jcm12185979 [doi]
LID - 5979
AB  - BACKGROUND: Few reports of benign recurrent intrahepatic cholestasis (BRIC) have 
      focused on East Asian patients. We describe the clinicopathologic features, 
      genetics, treatment, and outcomes in Japanese BRIC patients. METHODS: We 
      recruited patients with BRIC type 1 (BRIC-1) or 2 (BRIC-2) treated at four 
      pediatric centers and one adult center between April 2007 and March 2022. 
      Demographics, clinical course, laboratory results, molecular genetic findings 
      concerning ATP8B1 and ABCB11 genes, histopathology, and treatment response were 
      examined retrospectively. RESULTS: Seven Japanese patients with BRIC were 
      enrolled (four male, three female; four BRIC-1 and three BRIC-2). The median age 
      at onset for BRIC-1 was 12 years; for BRIC-2, it was 1 month. Intermittent 
      cholestatic attacks numbered from one to eight during the 11 years of median 
      follow-up. Six patients received a mainstream education; only one patient 
      attended special education. None developed cirrhosis. Three with BRIC-1 showed 
      compound heterozygosity for a variant ATP8B1 gene, while one was heterozygous; 
      two BRIC-2 patients showed compound heterozygosity in ABCB11 and one was 
      heterozygous. Liver biopsy specimens obtained during cholestatic attacks showed 
      fibrosis varying from none to moderate; inflammation was absent or mild. 
      Rifampicin administered to three patients for cholestatic attacks was effective 
      in all, as was cholestyramine in two of three. CONCLUSIONS: To our knowledge, 
      this is the first East Asian multicenter study of BRIC patients. Onset age and 
      number of cholestatic attacks varied. Rifampicin and cholestyramine were 
      effective against attacks. No patient developed cirrhosis; most had normal growth 
      and development. The long-term outcomes were satisfactory.
FAU - Kato, Ken
AU  - Kato K
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Kurume 830-0011, Japan.
FAU - Umetsu, Shuichiro
AU  - Umetsu S
AD  - Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi 
      Tobu Hospital, Yokohama 230-0012, Japan.
FAU - Togawa, Takao
AU  - Togawa T
AD  - Department of Pediatrics and Neonatology, Nagoya City University Graduate School 
      of Medical Sciences, Nagoya 467-8601, Japan.
FAU - Ito, Koichi
AU  - Ito K
AD  - Department of Pediatrics and Neonatology, Nagoya City University Graduate School 
      of Medical Sciences, Nagoya 467-8601, Japan.
FAU - Kawabata, Takayoshi
AU  - Kawabata T
AD  - Department of Pediatrics, Ishikawa Prefectural Central Hospital, Kanazawa 
      920-8530, Japan.
FAU - Arinaga-Hino, Teruko
AU  - Arinaga-Hino T
AD  - Division of Gastroenterology, Department of Medicine, Kurume University School of 
      Medicine, Kurume 830-0011, Japan.
FAU - Tsumura, Naoya
AU  - Tsumura N
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Kurume 830-0011, Japan.
FAU - Yasuda, Ryosuke
AU  - Yasuda R
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Kurume 830-0011, Japan.
FAU - Mihara, Yutaro
AU  - Mihara Y
AUID- ORCID: 0000-0002-4119-1486
AD  - Department of Pathology, Kurume University School of Medicine, Kurume 830-0011, 
      Japan.
FAU - Kusano, Hironori
AU  - Kusano H
AUID- ORCID: 0000-0002-9911-2007
AD  - Department of Pathology, Kurume University School of Medicine, Kurume 830-0011, 
      Japan.
FAU - Ito, Shogo
AU  - Ito S
AD  - Department of Pediatrics and Neonatology, Nagoya City University Graduate School 
      of Medical Sciences, Nagoya 467-8601, Japan.
FAU - Imagawa, Kazuo
AU  - Imagawa K
AD  - Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba 
      305-8546, Japan.
FAU - Hayashi, Hisamitsu
AU  - Hayashi H
AUID- ORCID: 0000-0002-5247-895X
AD  - Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical 
      Science, The University of Tokyo, Tokyo 113-0033, Japan.
FAU - Inui, Ayano
AU  - Inui A
AD  - Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi 
      Tobu Hospital, Yokohama 230-0012, Japan.
FAU - Yamashita, Yushiro
AU  - Yamashita Y
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Kurume 830-0011, Japan.
FAU - Mizuochi, Tatsuki
AU  - Mizuochi T
AUID- ORCID: 0000-0002-2943-7068
AD  - Department of Pediatrics and Child Health, Kurume University School of Medicine, 
      Kurume 830-0011, Japan.
LA  - eng
PT  - Journal Article
DEP - 20230915
PL  - Switzerland
TA  - J Clin Med
JT  - Journal of clinical medicine
JID - 101606588
PMC - PMC10532077
OTO - NOTNLM
OT  - ABCB11
OT  - ATP8B1
OT  - children
OT  - cholestasis
OT  - cholestyramine
OT  - rifampicin
COIS- The authors declare no conflict of interest.
EDAT- 2023/09/28 06:42
MHDA- 2023/09/28 06:43
PMCR- 2023/09/15
CRDT- 2023/09/28 01:23
PHST- 2023/07/30 00:00 [received]
PHST- 2023/09/13 00:00 [revised]
PHST- 2023/09/13 00:00 [accepted]
PHST- 2023/09/28 06:43 [medline]
PHST- 2023/09/28 06:42 [pubmed]
PHST- 2023/09/28 01:23 [entrez]
PHST- 2023/09/15 00:00 [pmc-release]
AID - jcm12185979 [pii]
AID - jcm-12-05979 [pii]
AID - 10.3390/jcm12185979 [doi]
PST - epublish
SO  - J Clin Med. 2023 Sep 15;12(18):5979. doi: 10.3390/jcm12185979.