Hypophosphatemic rickets: etiology, clinical features and treatment.
Hypophosphatemic rickets: etiology, clinical features and treatment.
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DOI：
10.1007/s00590-014-1496-y
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发表时间：
2015-02-01
期刊：
影响因子：
--
通讯作者：
Sessa, Giuseppe
中科院分区：
文献类型：
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作者：
Pavone, Vito;Testa, Gianluca;Sessa, Giuseppe
低磷血症佝偻病（HR）是一种遗传性疾病，它阻碍了近端肾小管对磷酸盐的充分重吸收，导致磷酸盐排泄增加，从而导致佝偻病。更常见的HR是一种x连锁遗传特征，患病率为1/20,000。缺陷基因位于X染色体上，但女性可能表现出各种各样的临床表现。较不常见的HR是由常染色体显性传播引起的。参与FGF-23调节的成纤维细胞生长因子23 （FGF-23）基因的激活突变和磷酸盐调节基因（与X染色体上的内多肽酶同源的PHEX基因）的失活突变已被确定，并与这些紊乱的发病机制有关。回顾了HR的发病机制和临床，鉴别诊断和治疗方面，特别强调骨损伤，被报道。
Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported.