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.
Highlights
Hereditary cystic kidney diseases comprise a group of slowly progressive, chronically debilitating disorders with a high level of complexity
Thereby, Network for early onset cystic kidney diseases (NEOCYST) is the first registry study providing a comprehensive approach to early onset hereditary cystic kidney diseases and allowing back-to-back analyses on similarities and differences of the individual disease entities
These topics get addressed by internationally acknowledged experts in the field of hereditary cystic kidney diseases
Summary
Hereditary cystic kidney diseases comprise a group of slowly progressive, chronically debilitating disorders with a high level of complexity. Recent advances in genomics challenged the classical Mendelian conditions and highlighted the genetic complexity of hereditary cystic kidney diseases and related ciliopathies [28] This complexity has been attributed to allelic heterogeneity, locus heterogeneity, reduced penetrance, variable expressivity, modifier genes, and/or environmental factors [29]. Physicians addressing hereditary cystic kidney diseases should combine both—detailed, multisystemic phenotyping and careful assessment of genotype pathogenicity—in order to capture all facets of the underlying disease [30] Against this background, it will be important to overcome the financial restraints associated with modern NGS-based sequencing currently hampering a comprehensive genetic characterization. Despite all the achievements mentioned above, enormous challenges remain to be solved: the complex phenotypic spectrum, genetic heterogeneity, a lack of reliable genotype–phenotype correlations, a limited molecular understanding and the absence of disease-specific biomarkers still hamper an early diagnosis and individual counseling. We would like to introduce the structure, the goals, and the individual work-packages of the NEOCYST collaborative accompanied by a short overview on the current state of progress
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