Alves Crésio, Lima Renata
Pediatric Endocrinology Unit, Hospital Universitario Professor Edgard Santos, Faculty of Medicine, Federal University of Bahia, Brazil.
J Pediatr Endocrinol Metab. 2011;24(1-2):25-7. doi: 10.1515/jpem.2011.106.
To report a case of primary hyperphosphatemic tumoral calcinosis (TC) and its long-term 10-year follow-up.
The patient was an 18-year-old male, who had been diagnosed with TC at the age of 8 years. In spite of nine surgeries for tumoral resection and medical treatments (i.e., aluminum hydroxide, non-steroidal anti-inflammatory agents) the lesions continued to progress. Physical examination showed calcified masses on shoulders, hip, elbows and right foot. PTH, calcitonin, 25(OH) vitamin D, 1,25(OH)2 vitamin D, renal and liver function, electrolytes, alkaline phosphatase, calcium and magnesium were normal. Serum phosphorus was elevated. FGF-23 (C-terminal): 1960 RU/mL (<180) Radiological and histological studies were compatible with TC.
This long-term follow-up illustrates the morbidity and difficulty in treating these patients due to the progressive and recurrent nature of the calcified masses, for which there is no effective treatment as yet. The discovery of FGF-23 as the factor responsible for the hyperphosphatemic type of TC paves the way for forthcoming therapies.
报告一例原发性高磷血症性肿瘤性钙化症（TC）病例及其10年长期随访情况。
该患者为一名18岁男性，8岁时被诊断为TC。尽管进行了9次肿瘤切除手术及药物治疗（即氢氧化铝、非甾体类抗炎药），病变仍持续进展。体格检查显示肩部、髋部、肘部和右脚有钙化肿块。甲状旁腺激素、降钙素、25（OH）维生素D、1,25（OH）2维生素D、肾功能和肝功能、电解质、碱性磷酸酶、钙和镁均正常。血清磷升高。成纤维细胞生长因子23（C末端）：1960 RU/mL（<180） 放射学和组织学研究结果与TC相符。
这项长期随访表明，由于钙化肿块具有进行性和复发性，治疗这些患者存在发病率高和困难的问题，目前尚无有效的治疗方法。成纤维细胞生长因子23作为高磷血症型TC的致病因素的发现为未来的治疗铺平了道路。
