摘要
目的：研究ＩｇＡ肾病临床多样性产生的基因背景。方法：对１０３名正常人和９７例ＩｇＡ肾病患者ＩＬ－１受体拮抗剂（ＩＬ－１ｒａ）和ＴＮＦ－α基因的多态性进行了分析。结果：发现ＩＬ１ＲＮ·１和ＩＬ１ＲＮ·２等位基因在正常人和ＩｇＡ肾病患者中的分布差异不明显。但ＩＬ１ＲＮ·２等位基因在反复发作性肉眼血尿患者中的发生率明显高于其他患者。ＴＮＦ－α基因点突变的发生率在正常人为３．９％，在ＩｇＡ肾病患者为１．０％。由于ＴＮＦ－α基因点突变在人群中发生率很低，本文未对其进行进一步分析。结论：反复发作性肉眼血尿型ＩｇＡ肾病患者在其症状发作前往往合并有上呼吸道感染，可能与ＩＬ１ＲＮ·２等位基因的高携带率有关。进一步阐明ＩＬ１ＲＮ·２等位基因与ＩｇＡ肾病临床症候及预后的联系。
BJECTIVESTheinvestigationofgenotype-phenotypecorelationmaybehelpfulforunderstandingtheclinicaldiversityofIgAnephropathy.Thereisgrowingevidencethatinterlukin-1(IL-1)andtumornecrosisfactor-α(TNF-α)playacriticalroleasmediatorsofinflammationandasprogresionfactorsinvariousrenaldiseases,especialyinthemesangialproliferationandcrescentformation.Thepolymor-phismintheIL-1receptorantagonist(IL-1ra)andTNF-αgenesareasociatedwiththevariationofcir-culatorylevelsofIL-1raandTNF-α.METHODOLOGYThepolymorphismsofIL-1raandTNF-αgeneshavebeenanalyzedin103normalcontroland97IgAnephropathybyPCRinthepresentstudy.RESULTSIthasbeenfoundthatthereisnosignificantdiferenceinthefrequenciesofIL1RN·1andIL1RN·2betweennormalcontrolandIgAnephropathy.However,patientswithrecurentgroshemoturiashowedamarkedlyincrementinthecariagerateofIL1RN·2.Thefrequencyofpointmu-tationin-308ofTNF-αgeneis3.9%innormalcontroland1.0%inIgAnephropathy.CONCLUSIONSThesefindingssuggestthattheseisapossibleasociationbetwenthehighercar-riagerateofIL1RN·2andtherelapseofgroshematuriainIgAnephropathy.TheexactmechanismswherebythegenepolymorphismofIL-1raimpacttheclinicalvariationandprogresioninIgAnephropa-thyremaintobeelucidated.
出处
《肾脏病与透析肾移植杂志》
CAS
CSCD
1996年第6期1-4,共4页
Chinese Journal of Nephrology,Dialysis & Transplantation
