X-Linked Hypophosphatemic Rickets: Case Report
X-Linked Hypophosphatemic Rickets: Case Report
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DOI：
10.2298/sarh1402075r
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发表时间：
2014-01-01
影响因子：
0.2
通讯作者：
Pavicevic, Polina
中科院分区：
文献类型：
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作者：
Radlovic, Vladimir;Smoljanic, Zeljko;Pavicevic, Polina
X-连锁低磷血症性佝偻病（XLHR）是一种显性遗传性疾病，由单纯性肾性磷酸盐消耗和维生素D活化受损引起。我们提出了一个女孩与X连锁低磷血症佝偻病（XLHR）的结果从头突变的PHEX基因。病例概要一个2.2岁的女孩提出了突出的下肢佝偻病畸形，蹒跚步态和不成比例的身材矮小（79厘米，
Introduction X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene.Case Outline A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm,