{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:21:06Z","timestamp":1790914866029,"version":"4.1.0"},"reference-count":175,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,6,17]],"date-time":"2021-06-17T00:00:00Z","timestamp":1623888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01467"],"award-info":[{"award-number":["PI15\/01467"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["IN607B 2016\/020"],"award-info":[{"award-number":["IN607B 2016\/020"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.<\/jats:p>","DOI":"10.3390\/ijms22126523","type":"journal-article","created":{"date-parts":[[2021,6,17]],"date-time":"2021-06-17T21:29:16Z","timestamp":1623965356000},"page":"6523","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1095-2139","authenticated-orcid":false,"given":"Adrian","family":"Cordido","sequence":"first","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0265-4203","authenticated-orcid":false,"given":"Marta","family":"Vizoso-Gonzalez","sequence":"additional","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"Garcia-Gonzalez","sequence":"additional","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Fundaci\u00f3n Publica Galega de Medicina Xen\u00f3mica-SERGAS, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,17]]},"reference":[{"key":"ref_1","first-page":"1101","article-title":"The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling","volume":"56","author":"Muecher","year":"1995","journal-title":"Am. 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