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abcb4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report

World Journal of Clinical Cases 2023年第20期11卷 4903-4911页

作者： Na Cheng Yu-Jie Qin Quan Zhang Hong Li Department of Infectious Diseases Affiliated Hospital of Guizhou Medical UniversityGuizhou Medical UniversityGuiyang 550025Guizhou ProvinceChina Department of Infectious Diseases Guizhou Provincial People's HospitalGuiyang 550025Guizhou ProvinceChina

BACKGROUND gene mutations in ATP-binding cassette,subfamily B(abcb4)lead to autosomal recessive *** light amyloidosis is a rare and incurable ***,we report a rare case of liver cirrhosis caused by abcb4 gene mutation combined with primary light *** SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent *** examination of the liver tissue suggested liver cirrhosis with bile duct *** analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the abcb4 *** marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in *** acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for *** treatment,the patient demonstrated significant *** protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no ***,the patient’s lower limb numbness resolved,and her condition remained *** This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.

关键词： abcb4 gene Progressive familial intrahepatic cholestasis 3 Cirrhosis Systemic amyloidosis Case report

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Intrahepatic cholestasis of pregnancy:When should you look further?

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World Journal of Gastroenterology 2009年第9期15卷 1126-1129页

作者： Winita Hardikar Shivani Kansal Ronald P J Oude Elferink Peter Angus Victorian Liver Transplant Unit Austin HospitalMelbourne 3084Australia Department of Gastro-enterology&Clinical Nutrition Royal Children's HospitalMelbourne 3052Australia Department of Paediatrics University of MelbourneMelbourne 3052Australia Murdoch Children's Research Institute Melbourne 3052Australia AMC Liver Centre Academic Medical CentreAmsterdam 1105AZThe Netherlands

Pruritis with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy(ICP),a condition associated with significant fetal *** the etiology of ICP is unclear in many cases,certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver *** report a kindred of Anglo-Celtic descent,among whom many members present with ICP,gallstones or cholestasis related to use of oral *** studies revealed a novel mutation in the abcb4 gene,which codes for a phospholipid transport *** clinical significance of this mutation and the importance of identifying such patients are discussed.

关键词： abcb4 gene abcb4 transporter Phospholipids Cholestasis of pregnancy Gallstones

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Novel abcb4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3:A case report

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World Journal of Clinical Cases 2022年第6期10卷 1998-2006页

作者： Tian-Fu Liu Jing-Jing He Liang Wang Ling-Yi Zhang Department of Hepatology Lanzhou University Second HospitalLanzhou 730030Gansu ProvinceChina

BACKGROUND Mutations that occur in the abcb4 gene,which encodes multidrug-resistant protein 3,underlie the occurrence of progressive familial intrahepatic cholestasis type 3(PFIC3).Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or *** of PFIC3 occurring in adults are *** SUMMARY This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver *** primary clinical signs were elevated levels of alkaline phosphatase andγ-glutamyl *** possible reasons for liver dysfunction were eliminated in this patient,resulting in a diagnosis of *** diagnosis was confirmed using gene detection and histological *** using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the abcb4 gene,namely,a 2950C>T;p.A984V mutation(exon 24)and a 667A>G;p.I223V mutation(exon 7).After receiving ursodeoxycholic acid(UDCA)treatment,the patient's liver function indices improved,and she successfully became pregnant by in vitro ***,the patient developed intrahepatic cholestasis of pregnancy in the first ***,treatment with UDCA was safe and *** These novel abcb4 heterozygous mutations have a variety of clinical *** follow-up is essential for a comprehensive understanding of PFIC3.

关键词： Progressive familial intrahepatic cholestasis type 3 abcb4 gene Infertility Intrahepatic cholestasis of pregnancy Case report

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