Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis. (Record no. 5575)

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
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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
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 10/06/2020   32919899 32919899 10/06/2020 10/06/2020 Journal Article

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