婴儿型低磷酸酯酶症中的高磷血症：对携带者诊断和筛查的意义。
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
作者信息
Chodirker B N, Evans J A, Seargeant L E, Cheang M S, Greenberg C R
机构信息
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
出版信息
Am J Hum Genet. 1990 Feb;46(2):280-5.
Twenty obligate carriers of infantile hypophosphatasia (HOPS), a severe autosomal recessive metabolic bone disorder, were studied and compared with 36 controls. Decreased serum alkaline phosphatase activity and increased urinary phosphoethanolamine excretion were confirmed in the HOPS carriers. Relative hyperphosphatemia was documented for the first time in the carriers. Logistic regression analysis was used to develop models for the diagnosis of and screening for HOPS carriers in the high-risk population of Manitoba Mennonites. Models based on serum alkaline phosphatase activity and on serum phosphate levels with or without urinary phosphoethanolamine excretion were used for diagnostic purposes. A model based on serum alkaline phosphatase activity and on the serum phosphate level was the most suitable for screening.
对20名婴儿型低磷酸酯酶症（HOPS）的 obligate 携带者进行了研究，HOPS是一种严重的常染色体隐性代谢性骨病，并与36名对照者进行了比较。HOPS携带者血清碱性磷酸酶活性降低和尿磷酸乙醇胺排泄增加得到证实。首次在携带者中记录到相对高磷血症。采用逻辑回归分析建立模型，用于在曼尼托巴门诺派高危人群中诊断和筛查HOPS携带者。基于血清碱性磷酸酶活性以及有无尿磷酸乙醇胺排泄的血清磷酸盐水平的模型用于诊断目的。基于血清碱性磷酸酶活性和血清磷酸盐水平的模型最适合筛查。
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