Seferi Saimir, Saliaj Kristi, Likaj Eriola, Rroji Merita
Department of Nephrology, University Hospital Center "Mother Teresa", Tirana, ALB.
Cureus. 2024 Sep 29;16(9):e70442. doi: 10.7759/cureus.70442. eCollection 2024 Sep.
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inherited disorder affecting fatty acid metabolism. This enzymatic defect presents with a broad clinical spectrum, from severe neonatal forms that can be fatal, to milder myopathic variants characterized by myalgia and recurrent myoglobinuria in adolescence and adulthood. Herein, we report the case of a male patient who developed exertional rhabdomyolysis and acute kidney injury due to CPT2 deficiency. This case underscores the importance of considering genetic disorders in the differential diagnosis of patients presenting with recurrent exercise intolerance and metabolic crises. Early recognition and diagnosis enable prompt implementation of dietary and lifestyle modifications aimed at mitigating potential complications such as renal impairment. Moreover, timely diagnosis allows for genetic counseling of affected individuals and their families.
肉碱棕榈酰转移酶II（CPT2）缺乏症是一种影响脂肪酸代谢的罕见遗传性疾病。这种酶缺陷具有广泛的临床谱，从可能致命的严重新生儿形式，到以青少年和成年期肌痛和复发性肌红蛋白尿为特征的较轻的肌病变体。在此，我们报告一例因CPT2缺乏症导致运动性横纹肌溶解和急性肾损伤的男性患者病例。该病例强调了在对反复出现运动不耐受和代谢危机的患者进行鉴别诊断时考虑遗传疾病的重要性。早期识别和诊断能够迅速实施饮食和生活方式的调整，以减轻潜在并发症，如肾功能损害。此外，及时诊断可为受影响的个体及其家庭提供遗传咨询。
