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Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis

dr.qinan 添加于 2012-12-3 08:51 | 2776 次阅读 | 1 个评论

作者
Mitri Z, Tangpricha V
摘要
We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia.
详细资料
- 文献种类:期刊
- 期刊名称: Case Reports in Endocrinology
- 期刊缩写: Case Report Endocrinol
- 期卷页: 2012年第2012卷 238364页
- 地址: Department of Medicine, Emory University School of Medicine, 101 Woodruff Circle NE, Atlanta, GA 30322, USA
- ISBN: 2090-651X
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骨质硬化症
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!reply! dr.qinan 2013-8-14 14:53: 文章摘要翻译：本文报道了一个30岁男性骨硬化患者，患者表现为骨硬化症，低血磷和弥散性肌肉疼痛。实验室检查现实血清低血磷，尿高血磷，血清低钙和低VIT D3,碱性磷酸酶水平增高。影像学显示颅骨和骨盆骨密度明显上升。PHEX检测未检测到基因突变。