Nasiri Sangari Marzieh, Salehinia Reza, Rahnama Hossein, Ameri Fatemeh, Azimi Athary Arefeh, Lashgari Farnaz
Department of Surgical Technology, Tabas School of Nursing, Birjand University of Medical Sciences, Birjand, Iran.
Seyyed Mostafa Khomeini Hospital, Taba's City, Brigand University of Medical Sciences, Brigand, Iran.
J Med Case Rep. 2025 Jun 12;19(1):272. doi: 10.1186/s13256-025-05343-7.
Renal tubular acidosis is a rare disorder affecting acid-base balance, and its coexistence with endocrine abnormalities such as hyperparathyroidism and pheochromocytoma is exceptionally uncommon. This combination presents unique diagnostic and therapeutic challenges requiring a multidisciplinary approach.
A 25-year-old Iranian woman presented with recurrent flank pain, episodic palpitations, headaches, and intermittent hypertension. Imaging revealed bilateral nephrolithiasis, leading to ureteroscopic lithotripsy. Biochemical evaluation confirmed distal renal tubular acidosis (type 1), hyperparathyroidism, and pheochromocytoma, a rare and complex association. Metabolic acidosis, hypokalemia, and elevated catecholamine metabolites were noted. Potassium citrate was prescribed for stone prevention, and the patient remains asymptomatic after a year of follow-up.
This case underscores the need for heightened clinical suspicion when nephrolithiasis is accompanied by systemic symptoms. The rare coexistence of renal tubular acidosis, hyperparathyroidism, and pheochromocytoma highlights the importance of early recognition and a multidisciplinary approach to prevent complications and optimize patient outcomes.
肾小管酸中毒是一种影响酸碱平衡的罕见疾病，它与甲状旁腺功能亢进和嗜铬细胞瘤等内分泌异常并存极为罕见。这种组合带来了独特的诊断和治疗挑战，需要多学科方法。
一名25岁的伊朗女性出现反复侧腹痛、阵发性心悸、头痛和间歇性高血压。影像学检查发现双侧肾结石，遂进行输尿管镜碎石术。生化评估证实为远端肾小管酸中毒（1型）、甲状旁腺功能亢进和嗜铬细胞瘤，这是一种罕见且复杂的关联。发现有代谢性酸中毒、低钾血症和儿茶酚胺代谢产物升高。给予柠檬酸钾预防结石，随访一年后患者仍无症状。
该病例强调当肾结石伴有全身症状时需要提高临床怀疑度。肾小管酸中毒、甲状旁腺功能亢进和嗜铬细胞瘤的罕见并存凸显了早期识别以及采用多学科方法预防并发症和优化患者预后的重要性。
