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      Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

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          Abstract

          Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besides this symptomatic management, the only drug currently recommended in Europe for selected adult patients with rapid disease progression, is the vasopressin receptor antagonist tolvaptan. However, the question remains whether these preventive interventions should be initiated before extensive renal damage has occurred. As renal cyst formation and expansion begins early in life, frequently in utero, ADPKD should no longer be considered an adult-onset disease. Moreover, the presence of hypertension and proteinuria in affected children has been reported to correlate well with disease severity. Until now, it is controversial whether children at-risk for ADPKD should be tested for the presence of the disease, and if so, how this should be done. Herein, we review the spectrum of pediatric ADPKD and discuss the pro and contra of testing at-risk children and the challenges and unmet needs in pediatric ADPKD care.

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          Unified criteria for ultrasonographic diagnosis of ADPKD.

          Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a potential need for different diagnostic criteria. In this study, 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and molecular genotyping. Using sensitivity data derived from genetically affected individuals and specificity data derived from genetically unaffected individuals, various diagnostic criteria were compared. In addition, data sets were created to simulate the PKD1 and PKD2 case mix expected in practice to evaluate the performance of diagnostic criteria for families of unknown genotype. The diagnostic criteria currently in use performed suboptimally for individuals with mutations in PKD2 as a result of reduced test sensitivity. In families of unknown genotype, the presence of three or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 y, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 y, and four or more cysts in each kidney is required for individuals > or = 60 yr. Conversely, fewer than two renal cysts in at-risk individuals aged > or = 40 yr is sufficient to exclude the disease. These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed.
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            Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

            Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals and is the fourth most common cause for renal replacement therapy worldwide. There have been many recent advances in the understanding of its molecular genetics and biology, and in the diagnosis and management of its manifestations. Yet, diagnosis, evaluation, prevention, and treatment vary widely and there are no broadly accepted practice guidelines. Barriers to translation of basic science breakthroughs to clinical care exist, with considerable heterogeneity across countries. The Kidney Disease: Improving Global Outcomes Controversies Conference on ADPKD brought together a panel of multidisciplinary clinical expertise and engaged patients to identify areas of consensus, gaps in knowledge, and research and health-care priorities related to diagnosis; monitoring of kidney disease progression; management of hypertension, renal function decline and complications; end-stage renal disease; extrarenal complications; and practical integrated patient support. These are summarized in this review.
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              Clinical practice. Autosomal dominant polycystic kidney disease.

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                Author and article information

                Contributors
                URI : http://frontiersin.org/people/u/434753
                URI : http://frontiersin.org/people/u/494602
                Journal
                Front Pediatr
                Front Pediatr
                Front. Pediatr.
                Frontiers in Pediatrics
                Frontiers Media S.A.
                2296-2360
                20 December 2017
                2017
                : 5
                : 272
                Affiliations
                [1] 1PKD Lab, Department of Development and Regeneration, KU Leuven , Leuven, Belgium
                [2] 2Department of Pediatric Nephrology, University Hospitals Leuven , Leuven, Belgium
                [3] 3Department of Radiology, University Hospitals Leuven , Leuven, Belgium
                Author notes

                Edited by: Miriam Schmidts, Radboud University Nijmegen, Netherlands

                Reviewed by: Consolato Sergi, University of Alberta Hospital, Canada; Julia Hoefele, Technische Universität München, Germany

                *Correspondence: Stéphanie De Rechter, stephanie.derechter@ 123456uzleuven.be

                Specialty section: This article was submitted to Pediatric Nephrology, a section of the journal Frontiers in Pediatrics

                Article
                10.3389/fped.2017.00272
                5742347
                29326910
                b83ace24-3601-403c-8d80-fdee26bfcc51
                Copyright © 2017 De Rechter, Breysem and Mekahli.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 30 October 2017
                : 04 December 2017
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 100, Pages: 10, Words: 9117
                Funding
                Funded by: Fonds Wetenschappelijk Onderzoek 10.13039/501100003130
                Award ID: G0B1313N, 11M5214N
                Categories
                Pediatrics
                Review

                autosomal dominant polycystic kidney disease,children,testing,prevention,treatment

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