家族性低磷血症：一位年轻男性以腰背疼痛、足跟痛和跛行起病，文献复习
Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review.
机构信息
Center for Rheumatic Diseases, 11 Hermes Elegance, 1988, Convent Street, Camp, Pune, 411001, India.
出版信息
Clin Rheumatol. 2011 Apr;30(4):585-9. doi: 10.1007/s10067-010-1607-z. Epub 2010 Nov 2.
PMID:21042824
Abstract
A case of young man with low back ache and heel pains who was examined in a rheumatology outpatient and diagnosed as familial hypophosphatemia (FH), probably X-linked (XL), is presented. FH is most commonly transmitted as XL. The role of PHEX gene and fibroblast growth factor 23 is also described.
摘要
现介绍一例年轻男性患者，以腰背疼痛和足跟痛为主诉就诊于风湿科门诊，诊断为家族性低磷血症（FH），可能为 X 连锁（XL）遗传。FH 最常见的遗传方式为 XL 遗传。同时还描述了 PHEX 基因和成纤维细胞生长因子 23 的作用。
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