{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T11:44:49Z","timestamp":1776426289770,"version":"3.51.2"},"reference-count":40,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"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: Molecular analysis in patients with nephrolithiasis (NL) and\/or nephrocalcinosis (NC) enables more accurate evaluation of underlying etiologies. The existing clinical evidence regarding genetic testing in adults with NL comprises only a few cohort studies. Materials and Methods: We retrospectively analyzed 49 adult patients diagnosed with NL and\/or NC from a single center, on whom we performed a genetic test using a nephrolithiasis panel. We reviewed the phenotype of the patients and compared the cases with positive and negative molecular diagnosis. Results: In total, 49 adult patients with NL and\/or NC underwent genetic testing. Of the tested patients, 29 (59.2%) patients had 24 abnormal variants in 14 genes. Mendelian diseases were diagnosed in 14 (28.6%) cases: cystinuria (SLC3A1, SLC7A9; n = 4), hereditary distal renal tubular acidosis (SLC4A1; n = 3), Dent disease (CLCN5; n = 2), familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (CLDN16; n = 1), infantile hypercalcemia type 1 (CYP24A1; n = 1), primary hyperoxaluria type 1 (AGXT; n = 1), Bartter syndrome type 2 (KCNJ1; n = 1), and autosomal dominant tubulointerstitial kidney disease (UMOD; n = 1). Eight (16.3%) patients had pathogenic or likely pathogenic monoallelic variants as predisposing factors for NL and\/or NC, and seven (14.3%) had biallelic or monoallelic variants of uncertain significance. Patients with positive genetic tests had a lower estimated glomerular filtration rate (p = 0.03) and more frequent NL associated with NC (p = 0.007) and were unlikely to have arterial hypertension (p = 0.03) when compared with patients with negative tests. Conclusions: Our study shows an increased effectiveness of molecular diagnosis and highlights the benefits of genetic testing. NL associated with NC and the presence of chronic kidney disease are the characteristics that should prompt the clinician to suspect an inherited form of NL and\/or NC.<\/jats:p>","DOI":"10.3390\/genes16050501","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T11:00:54Z","timestamp":1745924454000},"page":"501","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and\/or Nephrocalcinosis: A Single-Center Experience"],"prefix":"10.3390","volume":"16","author":[{"given":"Elena Emanuela","family":"Rusu","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":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3574-4635","authenticated-orcid":false,"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 Uronephrology and Kidney Transplantation, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Pandele","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raluca","family":"Bobeica","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Balanica","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana Silvia","family":"Zilisteanu","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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru","family":"Iordache","sequence":"additional","affiliation":[{"name":"Department of Urology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2025-3315","authenticated-orcid":false,"given":"Adrian","family":"Lungu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s00240-020-01210-w","article-title":"Trends in the prevalence of kidney stones in the United States from 2007 to 2016","volume":"49","author":"Chewcharat","year":"2021","journal-title":"Urolithiasis"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ajur.2018.08.007","article-title":"Epidemiology of urolithiasis in Asia","volume":"5","author":"Liu","year":"2018","journal-title":"Asian J. 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