XLH 的盛行率
XLH 是最常見的一種遺傳性低磷酸鹽佝僂病 1,2
低磷酸鹽佝僂病的發生率為 21,000 至 25,000 例活產中出現 1 例 3
XLH 是以性聯遺傳顯性模式遺傳。 3
性聯遺傳顯性遺傳 3
Affected father
Affected mother
50% of all children may be at risk, regardless of sex
不過約 20% 至 30% 的個案為自發性突變。4,5 除了家族病史以外，觀察臨床症狀表現對於辨別 XLH 也很重要。
1. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 2. Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016;174(2):125-136. 3. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK83985/.資料查詢日期：2017 年 10 月 20 日。 4. Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphataemic rickets. J Hum Genet. 2012;57(7):453-458 5. Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996;81(11):4075-4080 .
