Diagnostic challenge of the newborn patients with heritable protein C deficiency.
Diagnostic challenge of the newborn patients with heritable protein C deficiency.
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DOI：
10.1038/s41372-018-0262-0
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发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
Ohga S
中科院分区：
文献类型：
--
作者：
Ichiyama M;Inoue H;Ochiai M;Ishimura M;Shiraishi A;Fujiyoshi J;Yamashita H;Sato K;Matsumoto S;Hotta T;Uchiumi T;Kang D;Ohga S
先天性蛋白C（PC）缺乏症的诊断具有挑战性。本研究旨在建立遗传性PC缺乏症的新生儿筛查在日本。我们测定了健康新生儿血浆PC和蛋白S（PS）活性水平的变化，并研究了日本登记处PROC突变的新生儿患者。生理PC和PS水平增加幅度较大。出生后PC/PS活性比值趋于一致。19例双等位基因突变患者的PC/PS活性比值低于13例无突变患者，9例单等位基因突变患者的PC/PS活性比值低于13例无突变患者。Logistic回归分析建立了一个公式，其中包括两个重要变量PC活性（截止值<10%，比值比= 30.0）和PC/PS活性比（截止值< 0.35，比值比= 22.7），用于确定突变患者的敏感性为93%，特异性为44%。PC/PS活性比值是日本人群中先天性PC缺乏症遗传筛查的有效参数。
The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10%, odds ratio = 30.0) and PC/PS-activity ratio (cut-off < 0.35, odds ratio = 22.7), with 93% sensitivity and 44% specificity for determining patients with mutation(s). The PC/PS-activity ratio is an effective parameter for the genetic screening of neonatal-onset PC-deficiency in Japanese population.
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