The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
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ATP8B1或ABCB11缺乏患者的GGT特征提高诊断效率
DOI：
10.1371/journal.pone.0153114
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发表时间：
2016
期刊：
影响因子：
3.7
通讯作者：
Wang JS
中科院分区：
文献类型：
--
作者：
Wang NL;Li LT;Wu BB;Gong JY;Abuduxikuer K;Li G;Wang JS
背景和目的ATP8B1或ABCB11基因缺陷是低糖耐量胆汁淤积症的主要原因。但ATP8B1或ABCB11缺乏症患者的GGT范围尚不清楚。本研究试图揭示这些患者的GGT特征，以提高诊断效率。方法自2012年1月至2015年12月，对207例慢性胆汁淤积症患者进行ATP8B1和/或ABCB11检测。另外17例在2004年1月至2011年12月期间被诊断为ATPB81或ABCB11缺乏症的患者也纳入了这项研究。600名人口匹配的儿童作为对照。临床资料通过回顾病历获得。结果共诊断ATP8B1缺乏症26例，ABCB11缺乏症30例。在任何观察到的月龄，两种疾病之间的GGT水平相似，但随着年龄的变化而变化。GGT值在生后2~6个月达峰值70U/L，第7~12个月达60U/L，1岁以上达50U/L。有基因诊断的患者与无基因诊断的患者和对照组的GGT水平不同。在没有基因诊断的患者中发现了更大范围的GGT。部分对照组在出生后2~6个月进行≥70U/L检测。在207例患者中，39例(18.8%)获得了基因诊断。111例符合上述范围，包括39例ATP8B1或ABCB11缺乏症患者。敏感性为100.0%。分子诊断阳性率上升至35.1%(39/111vs.39/207，X2=10.363，P=0.001)。其余96名患者超出了上述范围，未能接受基因诊断。这些患者占测序成本的43.8%。结论ATP8B1或ABCB11基因缺乏症患者血清GGT水平随年龄变化而变化。GGT值在生后2~6个月达峰值70U/L，第7~12个月达60U/L，1岁以上达50U/L。
Background and Aims Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But the ranges for GGT in patients with ATP8B1 or ABCB11 deficiency are unclear. This study tried to unravel the features of GGT in these patients that improve diagnostic efficiency. Methods This study enrolled 207 patients with chronic cholestasis who were ordered to test for ATP8B1 and/or ABCB11 from January 2012 to December 2015. Additional 17 patients with ATPB81 or ABCB11 deficiency diagnosed between January 2004 and December 2011 were also enrolled in this study. 600 population-matched children served as controls. Clinical data were obtained by retrospectively reviewing medical records. Results A total of 26 patients were diagnosed with ATP8B1 deficiency and 30 patients were diagnosed with ABCB11 deficiency. GGT levels were similar between the two disorders at any observed month of age, but varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year. GGT levels in patients with a genetic diagnosis were different from that in patients without a genetic diagnosis and controls. Larger ranges for GGT were found in patients without a genetic diagnosis. Some controls had GGT≥70U/L in the 2nd~6th month. Of the 207 patients, 39 (18.8%) obtained a genetic diagnosis. 111 patients met the ranges described above, including all the 39 patients with ATP8B1 or ABCB11 deficiency. The sensitivity was 100.0%. The rate of a positive molecular diagnosis increased to 35.1% (39/111 vs. 39/207, X2 = 10.363, P = 0.001). The remaining 96 patients exceeded the ranges described above and failed to receive a genetic diagnosis. These patients accounted for 43.8% of sequencing cost. Conclusions GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year.