{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:12:04Z","timestamp":1787987524688,"version":"build-2784847793"},"reference-count":127,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of genetic syndromes associated with CKD, or who were asymptomatic but had a positive family history of CKD. Extensive genetic testing (targeted gene panels and whole-exome sequencing\u2014WES) identified a mutation in the PKD1 gene in 3 out of 10 cases. In one patient, a known mutation in the PKD2 gene was identified. Another four patients were diagnosed with Alport syndrome: three of these presented with de novo missense mutations in the COL4A5 gene, and one patient had a mutation in the COL4A3 gene. One patient was diagnosed with MODY5, caused by a known mutation in the HNF1B gene, and one patient was diagnosed with Bartter syndrome type 1, resulting from a known mutation in the SLC12A1 gene. We present genotype\u2013phenotype correlations, highlighting the particularities of each patient within their family context. Our findings emphasize the importance of genotype\u2013phenotype correlations in refining diagnosis, personalizing therapeutic management, and providing essential genetic counseling for at-risk relatives.<\/jats:p>","DOI":"10.3390\/ijms27052362","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T14:42:47Z","timestamp":1772548967000},"page":"2362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype\u2013Phenotype Correlations"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6713-4244","authenticated-orcid":false,"given":"L\u0103cr\u0103mioara Ionela","family":"Butnariu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Regional Center for Medical Genetics Iasi, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu","family":"Russu","sequence":"additional","affiliation":[{"name":"Departament of Nefrology, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramona Geanina","family":"Babici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Dr. C.I. Parhon University Hospital, 700503 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"B\u0103giag","sequence":"additional","affiliation":[{"name":"Department of Modern Languages, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-7610","authenticated-orcid":false,"given":"Laura Mihaela","family":"Trandafir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Department of Pediatrics, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3018-8011","authenticated-orcid":false,"given":"Elena","family":"\u021aarc\u0103","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Department of Surgery II\u2014Pediatric Surgery, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Popovici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Department of Pediatrics, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8713-5367","authenticated-orcid":false,"given":"Nicoleta","family":"Gimiga","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Department of Pediatrics, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3937-7425","authenticated-orcid":false,"given":"Iuliana Magdalena","family":"Starcea","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Departament of Nefrology, Saint Mary\u2019s Emergency Children Hospital, 700309 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1146\/annurev-med-042921-101813","article-title":"Genetics of Kidney Disease: The Unexpected Role of Rare Disorders","volume":"74","author":"Elliott","year":"2023","journal-title":"Annu. Rev. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3339\/ckd.25.016","article-title":"Genes, kidneys, and the future: Transforming chronic kidney disease management through genomic insights","volume":"29","author":"Kil","year":"2025","journal-title":"Child. 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