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Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.

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Citation: Molecular Genetics & Metabolism. 2020 Sep 03PMID: 32919899Institution: MedStar Medical GroupDepartment: HospitalistForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: IN PROCESS -- NOT YET INDEXEDYear: 2020 ISSN:

1096-7192

Name of journal: Molecular genetics and metabolismAbstract: 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.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.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.All authors: Abdul Majeed N, Bryant J, Choyke PL, Font-Montgomery E, Gahl WA, Gunay-Aygun M, Heller T, Lukose L, Turkbey IB, Veppumthara PFiscal year: FY2021Digital Object Identifier:

https://dx.doi.org/10.1016/j.ymgme.2020.08.006

Date added to catalog: 2020-10-06

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Item type	Current library	Collection	Call number	Status	Date due	Barcode
Journal Article	MedStar Authors Catalog	Article	32919899	Available		32919899

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.

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.

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.

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