Single-center experience in management of progressive familial intrahepatic cholestasis

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dc.authoridVarol, İlknur fatma/0000-0001-5212-218X
dc.authoridYilmaz, Sezai/0000-0002-8044-0297
dc.authorwosidgungor, sukru/JNR-9592-2023
dc.authorwosidVarol, İlknur fatma/ABH-6387-2020
dc.authorwosidYilmaz, Sezai/ABI-2323-2020
dc.contributor.authorVarol, Fatma Ilknur
dc.contributor.authorSelimoglu, Mukadder Ayse
dc.contributor.authorGungor, Sukru
dc.contributor.authorYilmaz, Sezai
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2024-08-04T20:50:55Z
dc.date.available2024-08-04T20:50:55Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground and study aims: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inherited disease that causes intrahepatic-hepatocellular cholestasis. PFIC constitutes approximately 10-15% of cholestatic liver diseases in children. The aim of this study is to draw attention to this group of diseases, which pose a higher risk, in societies where consanguineous marriage is more common, and to share our experiences since the studies in the literature, regarding this group of diseases are case series with small number of patients. Patients and methods: This cross-sectional study was conducted on 34 patients who were admitted with jaundice and diagnosed by genetic analysis, between January 2015 and July 2020. Results: We found 17.6% of patients with PFIC type 1, 55.9% patients had PFIC type 2, 14.7% patients had PFIC type 3, 8.8% patients had PFIC type 4 and 2.9% patients had PFIC type 5. Partial internal biliary diversion was performed in 5 (14.7%) patients, who had severe itching during follow-up, did not respond to medical treatment, and did not have significant fibrosis in liver biopsy yet. The degree of itching before PIBD was rated as +4 (cutaneous erosion, bleeding and scarring), in 5 patients and the rates were 0 (absent) in two patients, and +1 (mild itching) in 3 patients, 6 months after PIBD, these differences were statistically significant(p = 0.027). The mean weight z score was-1.43 (-3.72-+0.73), before PIBD, while it was 0.39(-1.86 -+2.45), six months after PIBD; the diference was statistically significant(p = 0.043). Liver transplantation was performed in 12 (35.3%) patients with significant fibrosis in liver biopsy and developing signs of portal hypertension. Conclusion: The PFIC disease group is a heterogeneous disease group that is difficult to diagnose and treat. It should be considered in patients with cholestasis and/or pruritus and those with a history of consanguineous marriage between parents and death of a sibling with similar clinical symptoms. (c) 2021 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.ajg.2021.05.021
dc.identifier.endpage315en_US
dc.identifier.issn1687-1979
dc.identifier.issn2090-2387
dc.identifier.issue4en_US
dc.identifier.pmid34840097en_US
dc.identifier.scopus2-s2.0-85121153569en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage310en_US
dc.identifier.urihttps://doi.org/10.1016/j.ajg.2021.05.021
dc.identifier.urihttps://hdl.handle.net/11616/100364
dc.identifier.volume22en_US
dc.identifier.wosWOS:000734067400008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofArab Journal of Gastroenterologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCholestasisen_US
dc.subjectGeneticsen_US
dc.subjectProgressive familial intrahepatic cholestasisen_US
dc.subjectPartial internal biliary diversionen_US
dc.subjectManagementen_US
dc.titleSingle-center experience in management of progressive familial intrahepatic cholestasisen_US
dc.typeArticleen_US

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