{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(12)"],"submitter":["Konig J"],"pubmed_abstract":["<h4>Background and objectives</h4>Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (<i>NPHP1</i> to <i>-20</i>) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD.<h4>Design, setting, participants, & measurements</h4>We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. Cross-sectional and longitudinal data were collected. Mean observation time was 7"],"journal":["Clinical journal of the American Society of Nephrology : CJASN"],"pagination":["1974-1983"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5718263"],"repository":["biostudies-literature"],"pubmed_title":["Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies."],"pmcid":["PMC5718263"],"pubmed_authors":["Buscher A","Hildebrandt F","Gretz N","Habbig S","Riedl M","Omran H","Lablans M","Gesellschaft für Pädiatrische Nephrologie (GPN)","Haffner K","Billing H","Staude H","Titieni A","Konig S","Schild R","Schlingmann KP","Konrad M","Bald M","Konig J","Kranz B","Bergmann C","Hampel T","Pape L","Tonshoff B","Hansen M","Walden U"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.","description":"<h4>Background and objectives</h4>Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (<i>NPHP1</i> to <i>-20</i>) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD.<h4>Design, setting, participants, & measurements</h4>We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. Cross-sectional and longitudinal data were collected. Mean observation time was 7","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Dec","modification":"2025-04-22T14:51:43.112Z","creation":"2019-03-27T00:10:25Z"},"accession":"S-EPMC5718263","cross_references":{"pubmed":["29146700"],"doi":["10.2215/CJN.01280217","10.2215/cjn.01280217"]}}