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2018 ; 6
(ä): 24
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Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary
Approach to Hereditary Cystic Kidney Diseases in Childhood
#MMPMID29497606
König JC
; Titieni A
; Konrad M
Front Pediatr
2018[]; 6
(ä): 24
PMID29497606
show ga
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.
free
free
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