摘要
低血磷性佝偻病/骨软化症是一组由于遗传性或获得性原因导致以低磷血症为主要特征的骨骼矿化障碍性疾病,儿童起病称为佝偻病,成人起病称为骨软化症。儿童患者的主要临床表现为骨骼异常,包括佝偻病和生长障碍。成人患者主要临床表现为骨痛、关节炎、活动受限等。本文报道1例FGF23基因突变致常染色体显性遗传性低血磷性佝偻病(autosomal dominant hypophosphatemic rickets,ADHR)年轻患者及其母亲,经口服补磷和骨化三醇治疗2个月后血磷上升不明显,骨痛改善欠佳。加用琥珀酸亚铁口服治疗2个月后,血磷恢复正常。停止补磷,仅口服琥珀酸亚铁后监测血磷正常,骨痛明显改善。
Hypophosphatemic rickets/osteomalacia is a group of bone mineralization disorders characterized by hypophosphatemia with hereditary or acquired causes,which is called rickets in children and is called osteomalacia in adults.The clinical manifestations of the pediatric patients are skeletal abnormalities including rickets and growth disorders.The main symptoms of adult patients are bone pain,arthritis and limited mobility.In this article,a young patient and her mother with autosomal dominant hypophosphatemic rickets(ADHR)caused by FGF23 gene mutation were reported.After 2 months of treatment with oral phosphorus supplementation and calcitriol,there was no significant increase in blood phosphorus,and the improvement of bone pain was unsatisfactory.Ferrous succinate was orally administered additionally for 2 months,and the blood phosphorus returned to normal.Then the phosphorus supplement was discontinued and only oral ferrous succinate was continued,with the blood phosphorus increased and bone pain significantly alleviated.
作者
刁雪
罗明娟
梁伟
DIAO Xue;LUO Ming-juan;LIANG Wei(Department of Endocrinology,Shenzhen Hospital,Hong Kong University,Shenzhen 518000,Guangdong,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2024年第3期246-251,共6页
Chinese Journal Of Osteoporosis And Bone Mineral Research
