貴陽地區部分育齡人群G6PD缺乏癥的產前篩查及其臨床應用

DOI：10.16662/j.cnki.1674-0742.2016.32.001

[摘要] 目的 探討觀察貴陽地區部分貴陽地區G6PD缺乏癥的產前篩查及臨床應用。方法 方便選取2011年1月—2013年12月貴陽地區部分育齡人群G6PD缺乏癥篩查女性984例，采用連續監測速率法對入選女性進行G6PD活性定量檢測，對于疑似患者采用改良葡萄糖6-磷酸脫氫酶（G6PD）測定試劑盒進行測定，分析貴陽地區部分育齡人群G6PD缺乏癥的產前篩查及臨床應用情況。 結果 貴陽地區部分育齡人群G6PD缺乏癥篩中2011年確診陽性率為1.70%，2012年確診陽性率為3.23%，2013年確診陽性率為3.70%。984例患者中，最終確診30例，確診陽性率為3.05%；確診的30例G6PD缺乏癥患者中出生后16例男嬰，14例女嬰。男嬰G6PD缺乏癥發生率，顯著高于女嬰（P<0.05）；男嬰重度缺乏癥發生率，顯著低于女嬰（P<0.05）。結論 貴陽地區部分育齡人群G6PD缺乏癥發生率較高，應加大篩查和宣傳力度，做到G6PD缺乏癥的早期預防。

[關鍵詞] 貴陽地區；G6PD缺乏癥；產前篩查；臨床應用

[中圖分類號] R5 [文獻標識碼] A [文章編號] 1674-0742（2016）11（b）-0001-03

Prenatal Screening Portion of Childbearing Age G6PD Deficiency Guiyang Area and Its Clinical Application

WEI Wei1，WU Zhong-qin2，WANG Bi2，LIU Mei2，LI Yong3，XIN Wen-long3，SUN Yuan

1.Maternal and Child Health Care Hospital of Guiyang City， Obstetrics and Gynecology Department，Guiyang， Guizhou Province，550003 China；2.Maternal and Child Health Care Hospital of Guiyang City， Genetic Family， Guiyang， Guizhou Province， 550003 China；3.Maternal and Child Health Care Hospital of Guiyang City， Blood Transfusion Department， Guiyang， Guizhou Province ， 550003 China

[Abstract] Objective To observe the part Guiyang Guiyang G6PD deficiency of prenatal screening and clinical application. Methods Convenient selection January 2011 to December 2013 Guiyang section of childbearing age G6PD deficiency screening for women 984 cases， the use of continuous monitoring of the rate method selected women with G6PD activity quantitative detection for suspected patients with improved glucose 6 - phosphate removal catalase（G6PD） assay kit was measured， the analysis section of childbearing age G6PD deficiency in Guiyang prenatal screening and clinical application. Results Guiyang section of childbearing age G6PD deficiency screening in 2011 confirmed the positive rate was 1.70%， in 2012， confirmed the positive rate was 3.23%， in 2013 confirmed the positive rate was 3.70%. 984 cases of patients ultimately diagnosed 30 cases confirmed positive rate of 3.05%； diagnosed 30 cases of patients with G6PD deficiency after the baby was born 16 cases， 14 cases of baby girl. Baby G6PD deficiency prevalence was significantly higher than girls（P <0.05）； the baby severe deficiency incidence was significantly lower than girls（P <0.05）. Conclusion Guiyang section of childbearing age G6PD deficiency higher incidence of disease， should increase screening and propaganda， so that G6PD deficiency early prevention of disease.

[Key words] Guiyang； G6PD deficiency； Prenatal screening； Clinical application

葡萄糖-6-磷酸脫氫酶（glucose-6-phosphatase dehydrogenase，G6PD）缺乏癥是臨床上發病率較高的遺傳性疾病，屬于常見的性聯不完全顯性遺傳病，且多發于食蠶豆、藥物、感染中，又稱為蠶豆病[1]。數據報道顯示[2]：我國華南和西南地區G6PD發病率達到5.0%～10.0%，是引起新生兒高膽紅素血癥及溶血性貧血的主要原因。因此，加強貴陽地區部分貴陽地區G6PD缺乏癥的產前篩查對降低G6PD缺乏癥發生率具有重要的意義[3]。自開展新生兒疾病篩查工作以來，G6PD篩查一直是我國篩查項目之一，為了探討貴陽地區部分貴陽地區G6PD缺乏癥的產前篩查及臨床應用?！?br>