Nabalawi Rana A
Department of Nephrology, King Abdulaziz University Faculty of Medicine, Jeddah, Saudi Arabia.
Case Rep Med. 2025 May 29;2025:3968524. doi: 10.1155/carm/3968524. eCollection 2025.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare hereditary disorder characterized by defective phosphate homeostasis, leading to ectopic calcium deposition in soft tissues. This case report describes a 41 year-old Jordanian male with HFTC and stage 5 chronic kidney disease (CKD) secondary to nonsteroidal anti-inflammatory drug (NSAID) abuse, who presented with symptoms suggestive of uremic pericarditis (UP). His medical history included multiple excisions for tumoral calcinosis, epilepsy, and hypertension. Upon presentation, the patient exhibited severe retrosternal pain, dyspnea, and signs of renal failure. Laboratory findings confirmed severe anemia, metabolic acidosis, hyperkalemia, hyperphosphatemia, and hypocalcemia. Imaging revealed mild pericardial effusion and echogenic kidneys. Following a diagnosis of UP, the patient was initiated on daily hemodialysis and received blood transfusions and antibiotic therapy. His condition improved significantly, with complete regression of pleural effusion and stabilization of renal function. This case emphasizes the importance of effective pain management in HFTC to prevent the misuse of analgesics like NSAIDs, which can lead to severe complications such as UP. This report serves as a valuable reminder of the intricate relationship between medication management and the worsening of underlying health conditions in patients with HFTC.
高磷血症性家族性肿瘤性钙化症(HFTC)是一种罕见的遗传性疾病,其特征为磷酸盐稳态失调,导致软组织中异位钙沉积。本病例报告描述了一名41岁的约旦男性,患有HFTC以及因滥用非甾体抗炎药(NSAID)继发的5期慢性肾脏病(CKD),出现了提示尿毒症性心包炎(UP)的症状。他的病史包括多次因肿瘤性钙化症、癫痫和高血压进行手术切除。就诊时,患者表现出严重的胸骨后疼痛、呼吸困难和肾衰竭体征。实验室检查结果证实存在严重贫血、代谢性酸中毒、高钾血症、高磷血症和低钙血症。影像学检查显示轻度心包积液和肾脏回声增强。在诊断为UP后,患者开始每日进行血液透析,并接受输血和抗生素治疗。他的病情显著改善,胸腔积液完全消退,肾功能稳定。本病例强调了在HFTC中有效疼痛管理的重要性,以防止滥用如NSAIDs之类的镇痛药,因为这可能导致诸如UP等严重并发症。本报告有力地提醒人们注意药物管理与HFTC患者潜在健康状况恶化之间的复杂关系。