Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Abstract

Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype–phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing “revolution” in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST) is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

“…The consensus process was initiated by the Network for Early Onset Cystic Kidney Disease (NEOCYST), which is a consortium of clinical, genetic and translational researchers devoted to the study of early-onset cystic kidney diseases 11 . In addition to paediatric nephrologists from the consortium, external experts in paediatric ADPKD, adult ADPKD, cystic kidney disease genetics, paediatric radiology and patient representatives were invited to participate (Supplementary information).…”

Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study

“…There are some international cohorts to define the genetic characteristics of various cystic kidney diseases and their association with phenotypes. The Network for Early Onset Cystic Kidney Disease (NEOCYST) is a government-funded multicenter network that collects clinical and genetic data to understand the underlying pathogenesis of hereditary cystic kidney disease [ 27 ]. The Consortium for Radiologic Imaging Study of Polycystic kidney disease (CRISP) group prospectively collected clinical, radiological, and genetic data to perform genotype-phenotype studies [ 28 , 29 ].…”

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement

“…The Network for Early Onset Cystic Kidney Disease (or NEOCYST) is a consortium of clinical, genetic, and translational researchers devoted to the study of early-onset cystic kidney diseases with a work package devoted to the development of guidelines and position papers (3). It is supported by the German Ministry of Education and Research, which did not influence the choice of topic or content of the position paper.…”