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Congenital Conditions of Hypophosphatemia Expressed in Adults.
Calcified Tissue International ( IF 4.2 ) Pub Date : 2020-05-14 , DOI: 10.1007/s00223-020-00695-2
Gemma Marcucci 1 , Maria Luisa Brandi 1, 2
Affiliation  

The main congenital conditions of hypophosphatemia expressed in adulthood include several forms of hereditary hypophosphatemic rickets and a congenital disorder of vitamin D metabolism characterized by osteomalacia and hypophosphatemia in adult patients. Hypophosphatemia in adults is defined as serum phosphate concentration < 0.80 mmol/L. The principal regulators of phosphate homeostasis, as is well known, are parathyroid hormone (PTH), activated vitamin D, and Fibroblast Growth Factor 23 (FGF23). Differential diagnosis of hypophosphatemia is based on the evaluation of mechanisms leading to this alteration, such as high PTH activity, inadequate phosphate absorption from the gut, or renal phosphate wasting, either due to primary tubular defects or high FGF23 levels. The most common inherited form associated to hypophosphatemia is X-linked hypophosphatemic rickets (XLH), caused by PHEX gene mutations with enhanced secretion of the FGF23. Until now, the management of hypophosphatemia in adulthood has been poorly investigated. It is widely debated whether adult patients benefit from the conventional treatments normally used for pediatric patients. The new treatment for XLH with burosumab, a recombinant human IgG1 monoclonal antibody that binds to FGF23, blocking its activity, may change the pharmacological management of adult subjects with hypophosphatemia associated to FGF23-dependent mechanisms.

中文翻译:

成人低磷血症的先天性疾病。

成年后表现为低磷血症的主要先天性疾病包括几种形式的遗传性低磷性病,以及以成年患者的骨软化症和低磷血症为特征的先天性维生素D代谢紊乱。成人低磷酸盐血症的定义为血清磷酸盐浓度<0.80 mmol / L。众所周知,磷酸盐稳态的主要调节剂是甲状旁腺激素(PTH),活化的维生素D和成纤维细胞生长因子23(FGF23)。低磷血症的鉴别诊断是基于对导致这种改变的机制的评估,例如由于初级肾小管缺陷或高FGF23水平而导致的高PTH活性,肠道磷酸盐吸收不足或肾磷酸盐浪费。与低磷血症相关的最常见的遗传形式是X连锁的低磷病(XLH),由PHEX基因突变引起FGF23分泌增加而引起。到目前为止,对成年期低磷血症的治疗方法还没有进行充分的研究。成年患者是否从通常用于儿科患者的常规治疗中受益,这一点已引起广泛争议。用burosumab(一种与FGF23结合并阻止其活性的重组人IgG1单克隆抗体)对XLH的新治疗方法可能会改变患有与FGF23依赖性机制相关的低磷血症的成年受试者的药理学管理。成年患者是否从通常用于儿科患者的常规治疗中受益,这一点已引起广泛争议。用burosumab(一种与FGF23结合并阻止其活性的重组人IgG1单克隆抗体)对XLH的新治疗方法可能会改变成年受试者与FGF23依赖性机制相关的低磷血症的药理学管理。成年患者是否从通常用于儿科患者的常规治疗中受益,这一点已引起广泛争议。用burosumab(一种与FGF23结合并阻止其活性的重组人IgG1单克隆抗体)对XLH的新治疗方法可能会改变成年受试者与FGF23依赖性机制相关的低磷血症的药理管理。
更新日期:2020-05-14
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