MARC details
000 -LEADER |
fixed length control field |
03304nam a22003497a 4500 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
fixed length control field |
201006s20202020 xxu||||| |||| 00| 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
International Standard Serial Number |
1096-7192 |
024 ## - OTHER STANDARD IDENTIFIER |
Standard number or code |
10.1016/j.ymgme.2020.08.006 [doi] |
024 ## - OTHER STANDARD IDENTIFIER |
Standard number or code |
S1096-7192(20)30188-8 [pii] |
040 ## - CATALOGING SOURCE |
Original cataloging agency |
Ovid MEDLINE(R) |
099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
PMID |
32919899 |
245 ## - TITLE STATEMENT |
Title |
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis. |
251 ## - Source |
Source |
Molecular Genetics & Metabolism. 2020 Sep 03 |
252 ## - Abbreviated Source |
Abbreviated source |
Mol Genet Metab. 2020 Sep 03 |
253 ## - Journal Name |
Journal name |
Molecular genetics and metabolism |
260 ## - PUBLICATION, DISTRIBUTION, ETC. |
Year |
2020 |
260 ## - PUBLICATION, DISTRIBUTION, ETC. |
Manufacturer |
FY2021 |
265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
Publication status |
aheadofprint |
266 ## - Date added to catalog |
Date added to catalog |
2020-10-06 |
520 ## - SUMMARY, ETC. |
Abstract |
BACKGROUND AND OBJECTIVES: We have previously published the characteristics of kidney and liver disease in a cohort of 73 individuals with molecularly confirmed autosomal recessive polycystic kidney disease-congenital hepatic fibrosis, based upon cross-sectional data. Here, we present prospective data on the same cohort. |
520 ## - SUMMARY, ETC. |
Abstract |
DESIGN, SETTING, PARTICIPANTS, AND MEASUREMENTS: Comprehensive biochemical and imaging data on progression of kidney and liver disease in 60 of the 73 patients were prospectively collected at the NIH Clinical Center on multiple visits between 2003 and 2019. |
520 ## - SUMMARY, ETC. |
Abstract |
RESULTS AND CONCLUSIONS: Of the 73 patients, 23 received a renal allograft at an average age of 17.5years and 10 underwent liver transplantation at an average age of 20.3years. Patients who presented perinatally and those who had corticomedullary disease required kidney transplantation significantly earlier. The mean eGFR slope in patients with corticomedullary disease was -1.6ml/min/1.73m2/y, in comparison to -0.6ml/min/1.73m2/y in those with medullary disease. Kidney size remained the same over time and normalized to the upper limit of normal by 20-25years of age. The extent of renal disease on ultrasound remained largely unchanged; no patient progressed from the "medullary" to the "corticomedullary" group. There was no correlation between eGFR slope and kidney size. The synthetic function of the liver remained largely intact even in patients with advanced portal hypertension. Based on spleen length/height ratio, two thirds of patients had portal hypertension which remained stable in 39% and worsened in 61%. Patients with portal hypertension had lower platelet counts and relatively higher levels of AST, GGT, direct bilirubin and ammonia. The progression rates of kidney and liver disease were independent of each other. Patients with bi-allelic non-truncating PKHD1 variants had similar progression of kidney and liver disease in comparison to those who were compound heterozygous for a non-truncating and a truncating variant. Copyright (c) 2020 Elsevier Inc. All rights reserved. |
546 ## - LANGUAGE NOTE |
Language note |
English |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name entry element |
IN PROCESS -- NOT YET INDEXED |
651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
Institution |
MedStar Medical Group |
656 ## - INDEX TERM--OCCUPATION |
Department |
Hospitalist |
657 ## - INDEX TERM--FUNCTION |
Medline publication type |
Journal Article |
700 ## - ADDED ENTRY--PERSONAL NAME |
Local Authors |
Abdul Majeed, Nehna |
790 ## - Authors |
All authors |
Abdul Majeed N, Bryant J, Choyke PL, Font-Montgomery E, Gahl WA, Gunay-Aygun M, Heller T, Lukose L, Turkbey IB, Veppumthara P |
856 ## - ELECTRONIC LOCATION AND ACCESS |
DOI |
<a href="https://dx.doi.org/10.1016/j.ymgme.2020.08.006">https://dx.doi.org/10.1016/j.ymgme.2020.08.006</a> |
Public note |
https://dx.doi.org/10.1016/j.ymgme.2020.08.006 |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Journal Article |
Item type description |
Article |