{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:57Z","timestamp":1787028237582,"version":"build-2736575974"},"reference-count":45,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD). Methods: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe how genetic features influence renal survival. Results: A total of 24 different mutations were identified, of which eight had not been previously described. Mutations affecting each of the type IV collagen \u03b1 chains were equally prevalent (33.3%). Most of the patients had pathogenic variants (61.1%). Most patients had a family history of kidney disease (71%). The most prevalent clinical picture was nephritic syndrome (64%). One-third of the subjects had extrarenal manifestations, 41.6% of patients had ESKD at referral, and another 8.3% developed ESKD during follow-up. The median renal survival was 42 years (95% CI, 29.98\u201354.01). The COL4A4 group displayed better renal survival than the COL4A3 group (p = 0.027). Patients with missense variants had higher renal survival (p = 0.023). Hearing loss was associated with lower renal survival (p &lt; 0.001). Conclusions: Patients with COL4A4 variants and those with missense mutations had significantly better renal survival, whereas those with COL4A3 variants and those with hearing loss had worse prognoses.<\/jats:p>","DOI":"10.3390\/genes15050593","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T11:00:10Z","timestamp":1715079610000},"page":"593","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genotype\u2013Phenotype Correlations in Alport Syndrome\u2014A Single-Center Experience"],"prefix":"10.3390","volume":"15","author":[{"given":"\u0218tefan Nicolaie","family":"Lujinschi","sequence":"first","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogdan Marian","family":"Sorohan","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogdan","family":"Obri\u0219c\u0103","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-3684","authenticated-orcid":false,"given":"Alexandra","family":"Vrabie","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5274-6862","authenticated-orcid":false,"given":"Gabriela","family":"Lupu\u0219oru","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camelia","family":"Achim","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5590-7879","authenticated-orcid":false,"given":"Andreea Gabriella","family":"Andronesi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreea","family":"Covic","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Nephrology Depatment, Dialysis and Renal Transplant Center, \u201cDr. C. I. Parhon\u201d Clinical Hospital, 700503 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gener","family":"Ismail","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/nrneph.2012.259","article-title":"Alport Syndrome\u2014Insights from Basic and Clinical Research","volume":"9","author":"Kruegel","year":"2012","journal-title":"Nat. Rev. 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