{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T12:17:51Z","timestamp":1787746671368,"version":"build-2784847793"},"reference-count":22,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Clin. Med.","JCM"],"abstract":"<jats:p>Background\/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major monogenic cause of pediatric cystic kidney disease. This study characterized the clinical, genetic, renal, and extrarenal spectrum of HNF1B-associated disease in a nationwide Greek pediatric cohort, with emphasis on renal functional variability during childhood. Methods: In this retrospective multicenter cohort study, 20 children aged &lt;18 years with molecularly characterized HNF1B-associated disease were identified from eight pediatric nephrology centers across Greece. Clinical, genetic, laboratory, imaging, and kidney function data were analyzed. Estimated glomerular filtration rate (eGFR) was assessed at diagnosis and latest follow-up, and genotype\u2013phenotype comparisons were performed. Results: Median age at diagnosis was 5.0 years. Copy-number variants were identified in 12 patients (60.0%), including ten 17q12 microdeletions and two whole-gene HNF1B deletions, while eight patients (40.0%) carried intragenic variants. Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%. Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements. Longitudinal eGFR data were available for 19 patients. Over a median follow-up of 5.0 years, mean eGFR remained largely unchanged (84.5 \u00b1 19.8 vs. 84.0 \u00b1 16.7 mL\/min\/1.73 m2); however, substantial interindividual variability was observed. No statistically significant genotype\u2013phenotype associations were identified, although hypomagnesemia was more frequent among patients with deletion-type defects. Conclusions: This nationwide Greek pediatric cohort highlights the marked phenotypic heterogeneity of HNF1B-associated disease, characterized by predominant structural renal abnormalities and relatively stable kidney function during childhood. Larger studies are needed to better define genotype-specific outcomes.<\/jats:p>","DOI":"10.3390\/jcm15176590","type":"journal-article","created":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:59:23Z","timestamp":1787741963000},"page":"6590","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5217-1766","authenticated-orcid":false,"given":"John","family":"Dotis","sequence":"first","affiliation":[{"name":"Third Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argyroula","family":"Zampetoglou","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, \u201cPanagiotis & Aglaia Kyriakou\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5483-9440","authenticated-orcid":false,"given":"Varvara","family":"Askiti","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, \u201cPanagiotis & Aglaia Kyriakou\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bitsori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University General Hospital of Heraklion, 71500 Heraklion, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0032-9047","authenticated-orcid":false,"given":"Ekaterini","family":"Siomou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital of Ioannina, University of Ioannina, 45110 Ioannina, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1244-375X","authenticated-orcid":false,"given":"Chrysoula","family":"Kosmeri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital of Ioannina, University of Ioannina, 45110 Ioannina, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9285","authenticated-orcid":false,"given":"Nikoleta","family":"Printza","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1709-4272","authenticated-orcid":false,"given":"Antonia","family":"Kondou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Centre of Genetics for Rare Diseases, Papageorgiou Hospital, 56403 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0274-6071","authenticated-orcid":false,"given":"Charalampos","family":"Kapogiannis","sequence":"additional","affiliation":[{"name":"Second Department of Pediatrics, Athens Medical Group, 14562 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasios","family":"Kapogiannis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, IASO Children\u2019s Hospital, 15123 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0085-7384","authenticated-orcid":false,"given":"Despoina","family":"Tramma","sequence":"additional","affiliation":[{"name":"Fourth Department of Pediatrics, \u201cG. Papageorgiou\u201d General Hospital, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Kollios","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7298-4494","authenticated-orcid":false,"given":"Maria","family":"Fourikou","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, Hippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Hellenic Society of Pediatric Nephrology (HSPN)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: The kidney and beyond","volume":"31","author":"Bockenhauer","year":"2016","journal-title":"Pediatr. 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