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 |