Department of Inborn Errors of Metabolism, Faculty of Medicine, Gazi University, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2021 Apr 6;34(6):813-816. doi: 10.1515/jpem-2020-0359. Print 2021 Jun 25.
Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Here we report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia.
The patient was started to the treatment with peroral acetazolamide however the lesion did not regress but a new lesion appeared then we added sevelamer and topical sodium thiosulfate treatment for three months. After the three months of the combination treatment the lesions, there were no pain, no hyperphospahtemia regression/disappearance of the lesions.
This combination treatment or topical sodium thiosulfate use only may be a novel treatment strategy for the patients prospective controlled trials are needed.
家族性高磷血症性肿瘤性钙化症是一种罕见疾病，其特征为反复出现关节周围异位钙化，伴有其他内脏和血管表现，无任何炎症或肿瘤性疾病。现有的治疗策略有限。我们在此报告一例 8 岁女性患者，其下巴和双侧臀部反复出现疼痛性病变，且病变大小和高磷血症有所改善。
患者开始接受口服乙酰唑胺治疗，但病变并未消退，反而出现新的病变，随后我们加用司维拉姆和局部硫代硫酸钠治疗三个月。联合治疗三个月后，病变无疼痛，无高磷血症，病变无消退/消失。
这种联合治疗或局部使用硫代硫酸钠可能是一种新的治疗策略，需要进行前瞻性对照试验。
