Zdravkova Irina, Tilkiyan Eduard, Ivanov Hristo, Lambrev Atanas, Dzhongarova Violeta, Kraleva Gergana, Kirilov Boris
Department of Propaedeutics of Internal Diseases, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria.
Nephrology Clinic, University Hospital "Kaspela", 4000 Plovdiv, Bulgaria.
Int J Mol Sci. 2025 May 14;26(10):4681. doi: 10.3390/ijms26104681.
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 gene, which is observed in patients with malignant hyperthermia. Meanwhile, the patient with AKI has a homozygous pathogenic variant in , 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 "thinking outside the box" with respect to how genetic diseases and defects can cause kidney damage, both chronic and acute.
横纹肌溶解症是急性肾损伤（AKI）的主要病因之一，与慢性肾脏病（CKD）的关联较少。CKD出现在糖尿病和动脉高血压中，是其他全身性疾病和肾小球肾炎的结果。在本研究中，我们呈现了两例由基因缺陷导致的病例（一例为CKD，一例为AKI）。对两名患者均进行了基因检测，结果证明CKD患者在该基因存在基因缺陷，这种缺陷在恶性高热患者中也有观察到。同时，AKI患者在某基因上有一个纯合致病性变异，该变异与尿尿酸排泄增多有关，其特征为无症状性低尿酸血症以及运动后发生AKI。第一例为慢性横纹肌溶解症，因为该患者是一名运动员，每天进行高强度运动。第二例是无前驱肾损害或症状的AKI。两名患者均未接受肾活检。在第一例中，日常活动改变且无剧烈体育锻炼后，肾功能恢复正常。第二例患者的AKI康复且无后遗症。这两例是关于遗传疾病和缺陷如何导致慢性和急性肾损伤的“跳出框框思考”的实例。
