{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:24:25Z","timestamp":1782221065118,"version":"3.54.5"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T00:00:00Z","timestamp":1643587200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,30]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 or PKD2 mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by DNAJB11 mutations (DNAJB11-PKD) has been recently described.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We retrospectively recruited a cohort of 27 patients from six different families sharing common ancestries and harboring the same DNAJB11 mutation (c.100C&amp;gt;T, p.Arg34*) and we compared it with a cohort of 42 typical ADPKD patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>DNAJB11-PKD patients show small\/normal-sized kidneys, with significantly smaller cysts and a slower progression to end-stage kidney disease (ESKD) than ADPKD patients. In the DNAJB11-PKD cohort, the cystic phenotype could not be detected by ultrasound in about half of the patients, but all cases with available computed tomography\/magnetic resonance scans displayed cysts. Clinically, DNAJB11-PKD patients displayed proteinuria (mostly albuminuria). Compared with ADPKD, DNAJB11-PKD patients were older and had a higher prevalence of type 2 diabetes mellitus (19%\u00a0versus 0%; P\u00a0=\u00a00.007) and nephrolithiasis (62%\u00a0versus 29%; P\u00a0=\u00a00.01), whereas the prevalence of cardiac valvular defects was lower (4%\u00a0versus 51%; P &amp;lt;\u00a00.001).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Overall, clinical features of DNAJB11-PKD were more subtle compared with those of ADPKD. DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history. Therefore our data support that this genetic disease is classified separately from ADPKD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ckj\/sfac032","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T12:15:29Z","timestamp":1643285729000},"page":"1179-1187","source":"Crossref","is-referenced-by-count":14,"title":["More dissimilarities than affinities between DNAJB11-PKD and ADPKD"],"prefix":"10.1093","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7770-2647","authenticated-orcid":false,"given":"Isabella","family":"Pisani","sequence":"first","affiliation":[{"name":"Unit\u00e0 Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , 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Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Farina","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Giuliotti","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Radiologia, Azienda Ospedaliero-Universitaria di Parma , Parma , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Cravedi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Renal Division, Icahn School of Medicine at Mount Sinai , NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Delsante","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7468-9600","authenticated-orcid":false,"given":"Umberto","family":"Maggiore","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Fiaccadori","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Universit\u00e0 di Parma , Parma , 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