一例罕见的高磷血症性肿瘤钙质沉着症发生于一名13岁的尼日利亚男孩

I. Nnakenyi, Chioma Edoga, E. Nnakenyi, N. Iloanusi, C. Okwor
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引用次数: 0

摘要

肿瘤性钙化症是一种罕见的疾病,表现为异位钙化沉积在身体不同的关节周围软组织区域-主要是髋关节,肘部和肩部。它是由于基因突变导致的磷酸盐调节激素-成纤维细胞生长因子23 (FGF23)的相对缺乏或抵抗,导致高磷血症。我们描述了这种情况在一个13岁,尼日利亚男孩谁提出了7年多体肿胀的坚实硬一致性的历史。实验室检查显示高磷血症,血清钙、维生素D和甲状旁腺激素水平正常。放射学和组织学表现与肿瘤性钙质沉着一致。在进行了两次手术切除病变后,他开始接受低磷酸盐饮食和磷酸盐结合剂治疗。重要的是要区分肿瘤钙化症与其他原因的病理性钙化,使用临床和实验室的结果,特别是在分子基因检测不容易获得的环境。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare case of Hyperphosphatemic Tumoral Calcinosis in a 13 year old Nigerian boy
Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.
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