biostudies-literatureUnknown12(12)Konig J<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 7Clinical journal of the American Society of Nephrology : CJASN1974-1983https://www.ebi.ac.uk/biostudies/studies/S-EPMC5718263biostudies-literaturePhenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.PMC5718263Buscher AHildebrandt FGretz NHabbig SRiedl MOmran HLablans MGesellschaft für Pädiatrische Nephrologie (GPN)Haffner KBilling HStaude HTitieni AKonig SSchild RSchlingmann KPKonrad MBald MKonig JKranz BBergmann CHampel TPape LTonshoff BHansen MWalden UfalsePhenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.<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 72017-01-01T00:00:00Z2017 Dec2025-04-22T14:51:43.112Z2019-03-27T00:10:25ZS-EPMC57182632914670010.2215/CJN.0128021710.2215/cjn.01280217