Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature. (Record no. 4284)

MARC details
000 -LEADER
fixed length control field 03442nam a22004697a 4500
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 190521s20192019 xxu||||| |||| 00| 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0041-1345
024 ## - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.transproceed.2018.11.007 [doi]
024 ## - OTHER STANDARD IDENTIFIER
Standard number or code S0041-1345(19)30042-9 [pii]
040 ## - CATALOGING SOURCE
Original cataloging agency Ovid MEDLINE(R)
099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC)
PMID 30979466
245 ## - TITLE STATEMENT
Title Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.
251 ## - Source
Source Transplantation Proceedings. 51(3):790-793, 2019 Apr.
252 ## - Abbreviated Source
Abbreviated source Transplant Proc. 51(3):790-793, 2019 Apr.
253 ## - Journal Name
Journal name Transplantation proceedings
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Year 2019
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Manufacturer FY2019
265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE]
Publication status ppublish
266 ## - Date added to catalog
Date added to catalog 2019-05-21
501 ## - WITH NOTE
Local holdings Available online from MWHC library: 1997 - present, Available in print through MWHC library:1999-2007
520 ## - SUMMARY, ETC.
Abstract Copyright (c) 2019 Elsevier Inc. All rights reserved.
520 ## - SUMMARY, ETC.
Abstract Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene, deranging the activity of chloride channels on the epithelial cell surface. Herein we describe end-stage liver disease in 3 infants with rare CFTR gene mutations; 2 of them were heterozygous. Case 1 was a premature male infant with negative CF screening at birth who developed a small bowel obstruction in the neonatal period requiring an ileostomy, with subsequent cholestatic liver disease and portal hypertension. In addition, he was noted to have frequent respiratory infections prompting a sweat test, which was positive. Genetic testing revealed that he was heterozygous for P.1177F. He then underwent a successful liver transplant. Case 2 was a female infant who developed progressive cholestasis with poor weight gain and was found to have neonatal hepatitis on liver biopsy. A sweat test was negative and genetic testing revealed she was heterozygous for CFTR and PEX26 gene mutations. She subsequently developed pneumatosis involving the cecum that was treated conservatively, followed by a successful liver transplant. Case 3 was a male infant who developed progressive liver disease, with liver biopsy showing neonatal hepatitis. He was extensively investigated but had a negative sweat test on repeated studies. Genetic testing revealed that the patient was heterozygous P.K186N-variant in the AKRID1 gene and homozygous P.R75Q-variant in the CFTR gene. Unfortunately, he succumbed to an acute upper gastrointestinal hemorrhage. Rare and unusual CFTR mutations, even in the heterozygous form, may be a feature in otherwise undiagnosed end-stage liver disease of infancy.
546 ## - LANGUAGE NOTE
Language note English
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element *Cystic Fibrosis Transmembrane Conductance Regulator/ge [Genetics]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element *Cystic Fibrosis/ge [Genetics]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element *Cystic Fibrosis/pa [Pathology]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element *Liver Diseases/ge [Genetics]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element *Liver Diseases/pa [Pathology]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Premature
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME
Institution MedStar Washington Hospital Center
656 ## - INDEX TERM--OCCUPATION
Department Surgery/Transplantation
657 ## - INDEX TERM--FUNCTION
Medline publication type Journal Article
700 ## - ADDED ENTRY--PERSONAL NAME
Local Authors Fishbein, Thomas M
790 ## - Authors
All authors Fishbein TM, Kaufman SS, Khan HH, Khan KM, Mew NA, Yazigi NA
856 ## - ELECTRONIC LOCATION AND ACCESS
DOI <a href="https://dx.doi.org/10.1016/j.transproceed.2018.11.007">https://dx.doi.org/10.1016/j.transproceed.2018.11.007</a>
Public note https://dx.doi.org/10.1016/j.transproceed.2018.11.007
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Journal Article
Item type description Article
Holdings
Withdrawn status Lost status Damaged status Not for loan Collection Home library Current library Date acquired Total Checkouts Full call number Barcode Date last seen Price effective from Koha item type
          MedStar Authors Catalog MedStar Authors Catalog 05/21/2019   30979466 30979466 05/21/2019 05/21/2019 Journal Article

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