Unidad de Nefrología Pediátrica, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain.
Adv Ther. 2020 May;37(Suppl 2):55-61. doi: 10.1007/s12325-019-01178-z. Epub 2020 Mar 31.
X-linked hypophosphataemia (XLH) is the most prevalent form of hereditary rickets characterized by an alteration of phosphate metabolism which frequently leads to the appearance of fractures, bone deformities and growth delay. Although the mechanism of growth impairment in patients with XLH still needs to be clarified, it is known that this alteration is not due to genetic or endocrine factors. A potential explanation for the impairment of growth in this disease is the alteration of the growth plate, a structure responsible for longitudinal growth of bones. Some of the findings in the growth plate of patients with XLH include atypical organization of chondrocytes due to low rates of proliferation and apoptosis and disturbance of chondrocyte hypertrophy, overactivation of the mitogen-activated protein kinase (MAPK) signalling pathway and upregulation of phosphorylated extracellular signal-regulated kinase (pERK). Conventional treatment of XLH (consisting of oral phosphate supplements and active vitamin D analogues) is often insufficient for the longitudinal growth of bone, but other strategies based on recombinant growth hormone or therapies targeting fibroblast growth factor 23 (FGF23) or its receptor, such as burosumab, have shown promising results. This article briefly describes the relationship between XLH and growth retardation, and how to address this alteration in patients with XLH.
X 连锁低磷血症（XLH）是最常见的遗传性佝偻病形式，其特征为磷酸盐代谢改变，常导致骨折、骨骼畸形和生长迟缓的出现。尽管 XLH 患者生长受损的机制仍需阐明，但已知这种改变不是由于遗传或内分泌因素引起的。该疾病生长受损的一个潜在解释是生长板的改变，生长板是负责骨骼纵向生长的结构。XLH 患者生长板的一些发现包括由于增殖和凋亡率低导致的软骨细胞的非典型组织、软骨细胞肥大的干扰、丝裂原激活蛋白激酶（MAPK）信号通路的过度激活以及磷酸化细胞外信号调节激酶（pERK）的上调。XLH 的常规治疗（包括口服磷酸盐补充剂和活性维生素 D 类似物）通常不足以促进骨骼的纵向生长，但基于重组生长激素或针对成纤维细胞生长因子 23（FGF23）或其受体的其他策略，如布罗索尤单抗，已显示出有希望的结果。本文简要描述了 XLH 与生长迟缓的关系，以及如何解决 XLH 患者的这种改变。
