{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T22:49:46Z","timestamp":1787698186298,"version":"build-2784847793"},"reference-count":42,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"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>Rhabdomyolysis is one of the leading causes of acute kidney injury (AKI) and is infrequently associated with chronic kidney disease (CKD). CKD appears in diabetes mellitus and arterial hypertension, as a result of other systemic diseases and glomerulonephritis. In this study, we present two cases (one with CKD and one with AKI) that are caused by a genetic defect. A genetic examination was performed in both patients, proving that the patient with CKD has a genetic defect in the RYR1 gene, which is observed in patients with malignant hyperthermia. Meanwhile, the patient with AKI has a homozygous pathogenic variant in SLC2A9, which is associated with urinary urate wasting and is characterized by asymptomatic hypouricemia and AKI after exercise. The first case is chronic rhabdomyolysis, as the patient is an athlete and performs heavy daily exercise. The second case is AKI without prior kidney damage or symptoms. Both patients did not undergo a kidney biopsy. In the first case, changes in daily routine without extreme physical exercise led to the recovery of normal kidney function. The second patient recovered from AKI without sequelae. These two cases are an example of \u201cthinking outside the box\u201d with respect to how genetic diseases and defects can cause kidney damage, both chronic and acute.<\/jats:p>","DOI":"10.3390\/ijms26104681","type":"journal-article","created":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T10:27:41Z","timestamp":1747218461000},"page":"4681","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Acute Kidney Injury and Chronic Kidney Disease Associated with a Genetic Defect: A Report of Two Cases"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1362-0121","authenticated-orcid":false,"given":"Irina","family":"Zdravkova","sequence":"first","affiliation":[{"name":"Department of Propaedeutics of Internal Diseases, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"},{"name":"Nephrology Clinic, University Hospital \u201cKaspela\u201d, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4091-4312","authenticated-orcid":false,"given":"Eduard","family":"Tilkiyan","sequence":"additional","affiliation":[{"name":"Nephrology Clinic, University Hospital \u201cKaspela\u201d, 4000 Plovdiv, Bulgaria"},{"name":"Second Department of Internal Diseases, Section \u201cNephrology\u201d, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7912-3673","authenticated-orcid":false,"given":"Hristo","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atanas","family":"Lambrev","sequence":"additional","affiliation":[{"name":"Nephrology Clinic, University Hospital \u201cKaspela\u201d, 4000 Plovdiv, Bulgaria"},{"name":"Second Department of Internal Diseases, Section \u201cNephrology\u201d, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta","family":"Dzhongarova","sequence":"additional","affiliation":[{"name":"Pediatrics Clinic, University Hospital \u201cSveti Georgi\u201d, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gergana","family":"Kraleva","sequence":"additional","affiliation":[{"name":"Department of Emergency Medicine, Internal Diseases Unit, University Hospital \u201cSveti Georgi\u201d, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Kirilov","sequence":"additional","affiliation":[{"name":"Department of Emergency Medicine, Internal Diseases Unit, University Hospital \u201cSveti Georgi\u201d, 4000 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"key":"ref_1","unstructured":"Vaidya, S.R., and Aeddula, N.R. 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