儿童低磷性佝偻病的诊治新进展

Research advances on the diagnosis and treatment of hypophosphatemic rickets in children

低磷性佝偻病(HR)又称家族性低磷血症,是以低磷血症及肾脏磷酸盐丢失为特征,主要表现为骨矿化障碍的遗传性疾病。它包括一组表型相似但基因型、遗传模式和病因不同的疾病,最常见的HR是X连锁显性低磷血症佝偻病(XLH)。不常见的HR可由常染色体显性或隐性遗传等原因引起。成纤维细胞生长因子23(FGF23)基因的激活突变和调控FGF-23基因的失活突变已被确认,并被证实与这些紊乱的发病机制有关。本文就HR的病理生理、发病机制、临床表现、诊断和治疗等方面作一综述,为佝偻病的鉴别和精准诊治提供参考和指导。

Hypophosphatemic rickets(HR),also known as familial hypophosphatemia,is a hereditary disease characterized by hypophosphatemia and renal phosphate loss,mainly manifested as bone mineralization disorders.It includes a group of diseases with similar phenotypes but different genotypes,hereditary patterns and etiologies.The most common HR is X-linked dominant hypophosphatemic rickets(XLH).Uncommon HR may be caused by autosomal dominant or recessive inheritance.Activation mutation of fibroblast growth factor 23(FGF23)gene and inactivation mutation of regulation gene involved in FGF-23 regulation have been confirmed and proved to be related to the pathogenesis of these disorders.The pathophysiology,pathogenesis,clinical manifestations,diagnosis and treatment of HR will be reviewed in this paper reviews.