{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T09:17:32Z","timestamp":1783156652551,"version":"3.54.6"},"reference-count":62,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T00:00:00Z","timestamp":1783123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T00:00:00Z","timestamp":1783123200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32270723"],"award-info":[{"award-number":["32270723"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FEBS Journal"],"abstract":"<jats:p>\n                    Nephronophthisis (NPH) is a ciliopathy primarily affecting renal tubules and interstitial tissue, ultimately progressing to end\u2010stage kidney disease (ESKD). The clinical spectrum of NPH is broad and can be classified according to the age at onset into infantile, juvenile, adolescent, and late\u2010onset forms. Histopathologically, NPH is characterized by corticomedullary cysts, tubular atrophy, interstitial fibrosis, and cystic dilatation of distal tubules. The kidneys may appear normal in early stages but gradually shrink with disease progression. More than 20 causative genes have been identified, with\n                    <jats:italic>NPHP1<\/jats:italic>\n                    being the most common. These genes encode proteins that localize predominantly to the ciliary transition zone and basal body, where they regulate ciliary structure and signaling. Loss of ciliary function disrupts epithelial polarity, intracellular trafficking, and signal transduction, leading to tubular injury and fibrosis. When extrarenal organs such as the retina, liver, or central nervous system are affected, the condition is defined as nephronophthisis\u2010related ciliopathies (NPH\u2010RC). This review summarizes the current understanding of NPH classification, clinical features, and molecular mechanisms. Here, we highlighted recent advances in genetic discoveries, pathogenic signaling pathways, and therapeutic strategies, including gene therapy and targeted molecular interventions.\n                  <\/jats:p>","DOI":"10.1111\/febs.70646","type":"journal-article","created":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T08:39:06Z","timestamp":1783154346000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nephronophthisis: Current clinical spectrum and molecular pathogenesis"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6554-4992","authenticated-orcid":false,"given":"Ya","family":"Li","sequence":"first","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou China"},{"name":"Department of Cell Biology Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9496-8367","authenticated-orcid":false,"given":"Siwei","family":"Yang","sequence":"additional","affiliation":[{"name":"Kidney Disease Center, The First Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2066-5897","authenticated-orcid":false,"given":"Xiying","family":"Chen","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6076-3806","authenticated-orcid":false,"given":"Jianhua","family":"Mao","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-8169","authenticated-orcid":false,"given":"Shanshan","family":"Xie","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou China"},{"name":"Department of Cell Biology Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,4]]},"reference":[{"key":"e_1_2_27_2_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1681\/ASN.2008050456","article-title":"Nephronophthisis: disease mechanisms of a ciliopathy","volume":"20","author":"Hildebrandt F","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_27_3_1","article-title":"Nephronophthisis\u2010pathobiology and molecular pathogenesis of a rare kidney genetic disease","volume":"12","author":"Gupta S","year":"2021","journal-title":"Gen"},{"key":"e_1_2_27_4_1","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.kint.2023.05.007","article-title":"The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies","volume":"104","author":"Petzold F","year":"2023","journal-title":"Kidney Int"},{"key":"e_1_2_27_5_1","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.952055","article-title":"Primary cilium in kidney development, function and disease","volume":"13","author":"Bai Y","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"e_1_2_27_6_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00430668","article-title":"The nephronophthisis complex. 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