先天畸形及代谢缺陷_3

先天畸形及代谢缺陷_3 先天畸形及代谢缺陷 :48?????????????h?s??,??????????;173?????? ?h?s??,???i86??????????,??????????69??,???????? ???h?s??;???????0????9??,?????????N???s??;?????? ??8??d4???M???s???????????????s???????????M?????? ?????????????????O????d4??11(??d???) 063296d????M?????o?h?s???????????(?????????? ???????1???.22006,21(8).2 1083??1085 1998??1?3??2004??12?3???e?????:18?<?d?4?? ??????156?????????6???h???M?????????M?????????? ?o?h?s???????????(??(CH)????,???e?????1???????? ?????????7?R?i???s?????K(TSH)?N??,?????E?h?;?? ????,?e?????I???????????1???????????6???;?iT3d: T4d:TSH????,T3d:T4?????????O,TSH???????????O?; ??????????,??109???????i??????????103?????????? ?????M????????????????????d:???????????????C?a?? ????,???????????M?????????????????0?s?????K???? ??d4????:?????:???M??CH????????????????5.93%,?? ????0.032%;40?????????M?21?<?3???6????d:????d:?? ????????,???0?s?????K???????2,????????1???????? ???w;??????????CH???????????0???2?M???????????) ?????)?h?>???O???????2?????4,?C?a???????????Od4?? 4(?Kd???) 063297d??????N???s?????????????????????K?L?? ?8???.22006,37(5).2 550??551 ???????w????7??14???????s?????????????????N ??????????????????????,??????????????????d4?????? ????????7??14???????s?????????;40??,???i?+4??, ??36??,?+????????1bt9,???S??????????????,?????? ?6??????????d4?12??,?28??,?s?????????????E ?h?;27??,??67.5%d4??3??6(????????) 063298d????o?h?s???????????????3?????1???. 22006,14(3).2300 063299d?????1?????????9???I???h????1???. 22006,21(4).2200,234 063300d????O????d:???C?????;?????K?+?M?????? ???3????23?N???????I?. 22006,21(8).2496??497,499 190?0???C????????????????,???;?????K?+?M???? ?????3????23(IGFBP23)?5?5????,?+1310??1419??,?? 1110??1419?????????N??,?????????A?=(4158??0164)d: (4167??0193)mg?Ld4???2IGFBP23?5?????,??910?? 1019???N??d4IGFBP23?N???2???????????K?+?M??????2 (IGF2)?N??????????????d4????IGFB23?N???2?? ??d:???U?????Md:????d:IGF2,?)???? IGFB23???h?>???4d4??3??(??d???) 633d??????:???????????????? . 22006,21(8).2471??472,482 ?????(DM)?2???????????????5???9?? ????,2004???????????DM?2???????????????? 1999??d412?????9???+???????)?h?>????????????d4?? ?DM?????M?????????;?P???M???U???;d4???????i?? (DKA)???????????I????????(HbAlc)d:????????(TC)d: ?6???F??(TG)????DKA???2??????d4?????????DM ?????????2???U?M?????6??d4?L???DM??DKA???M ?2???4?9????????d:HbAlc?N???6??d4??3??15(??d???) 063302d??????? .22006,14(3).2250??251 ????:?????K?1?????2????d:???????h?I????d:?T?? ?M??d:???????M??d:??????d:?0?2????????d:?????i?????? ?????Kd4?P???K?????1????????,???????h?I???.d:?M??d: ???????M??d:???O???M???????????Kd4??2??7(?????? ??) ???o?????????b???? 063303d??.?????1???????K???b?????????????. 22006,21(5).2340??343 063304d??M???h?????2???K?????. 22006,44(7).2547??550 063305d????K?h???e??????I??10?????N???????1 ???.22006,44(6).2470??471 063306d????????????K?h?????N?????????S?????? ?.22006,21(4).2176??179 063307d????M??????46???????????1???. 22006,23(1).294 063308d????????????O???h????????36???1???. 22006,23(3).2285??286 ??36?????????????O???h???????????N?????????? ?1??d4????:36???????????????2??????,??Kg?U?h????KL ?t??????????6?????(??????????,36???i28???????? ?????wd4??5(????????) 063309d????B??????48???. 22006,21(8).2483??484 355615?????M???i???????B??????(PKU)48??,?? ?i????PKU28??,?????B?e??????(HPA)15??,???b?M ????????????(BH4D)5??,PKU????????1?7408,???? ???????p?;??1?48d4????PKUd:HPA????????phe????, BH4D????BH4d:52(52HT)???????2???????????? ???????,???7?7?)???O????d4??8(??d???) 063310d??????????????????????????????????K?? ???????????.???26,(6)2 6?? ???????????????????I???????e????5??5 ????????????,??????????5?L,????(1?15) ??863???i??????????????????2006???R25???R5?M ?? 11:P 1 P12 00119992004 .20027. 81817 :1101.h 1.mmol210 mmol?L;?????2??3???????????I,8??????3??6h???? ??????,????1.9mmol?L,????(218??0.9)mmol?L,???? ?2?5??????????????????(P<0.001),????????????,?? ???????K??????3??????????????????>50%d4????:?0 ?=???6????????????????????????,???????????K???? ???????????o???b?h?????????.????????????????d4??1 ??7(??d???) 063311d????????b???3???S???????. 22006,24(6).2537??539 063312d??????????????b?9?????,?1?. 22006,13(2).2100??102 063313d?Robin???G??2???. 22006,44(6).2472??473 063314d??5?.???3?????????;?i?B???????????.?? ?.22006,6(12).22295 ?.?????????????h?????????? 063315d??.?????:?????h???????????t???s?????? ?.22006,24(6).2532??534 063316d??.???????h???????h?????????????. 22006,21(5).2347??350 063317d??????h???????????????M???>???????. 22006,44(6).2427??430 063318d??6???hIgM??????1???. 22006,44(6).2476 063319d????K?2?????????h?????. 22006,44(6).2425??427 063320d??????hT???????????????3???????????? ?2?????h???O??d:???O?h?????4????1???. 22006,44(4).2309??310 063321d??????h???????????N???????????????. 22006,44(6).2403??406 93???????h??????????(PID)?????i39.8%?????? ????????,22.6%?????3????????,14.0%??T?????? ??????????,?????2???????????????3????12.9%,?D?? ?????????;??9.7%,??????????1.1%d4?R?????????5 ???9??,?c??1996???2?2??d4????16??,?????3???????? ??????,?+bt??=3bt1d4?????C???,??PID???6????,???% ?????.d4??1??1??13(??d???) 063322d??????????????I?????2?1???. 22006,7(3).2139??141 ???e????Mediwiss???????????????????????????? ?????????;?i?????????4?hIgE????d47311%(95?130)?? ?;?????d?E?h????d4?E?h?????????=???F,???A???+?F ??d:?????????Ld4????????3?????9???????O???h?????? ????,3?????(???????????h??????????d4???;???????? ???????????????????????????sd4????(??????) 6333d??????N???3?????????????0?????? ???.22006,14(1).226 ?????????????A?????R1d:2d:3??????????,?,???A?? ????????d:???????????4?O???????????????0?)d4?e1420 ?0?????????i,????????4260???A,?0?)???A???????? ?????????A????,?)?????????,???A?????????4?????? ?hd4???0?)???????O?????????????N???????????A?H?? ??????d4??1??4(??????) 063324d?????????DNA?9?8?5?p?????<?O????Th1 ?????.22006,44(6).2415??419 ????12d:24d:48h??????????????DNA(bDNA)???? ???????9?;IL212?N???2????????????????d4bDNA???? ?????4(PMA)?????2,?1??IFN2Χb DNA???1??IL24?E?h???????C????????d:DNaseI ??????????bDNA(d2bDNA)????DNA(hDNA)??d4 bDNA???????e6d:12d:24h?2?O????????T2betmRNA?? ????????????????????(P??<0.05)d4????bDNA?9?8?? ?<?O????(CBMC)IL212d:IFN2ΧT2bet????,?(?8 IL24?1??,????CBMCTh1????,?????=???????????M?? ???????e?????????t????d4??2??11(??d???) 063325d????????????????????h?.???????????N?? ?.22006,24(3).2197??198 063326d????S?????????????eTGF2Β1?????(?????? ???????7????2Gla????mRNA???????????I?????? ???S???.22006,44(7).2531?? 534 063327d??????????U?h?????2???????????M?????N ???S???.22006,8(2).2 113??114 120???????U?h?????????i,??????????????2IgM (CP2IgM)22??(1813%),CP2IgM?E?h32??(2617%), ?2????????????(P<0101)d4CP?M????32???????i15?? ???????O???????????????t,17??(5311%)?e?????6?K +?O?????????3d4?????????????U?h?????2CP?6??,?? ??????????????;?h???????????????8?O?????K????,?6 ?m???????????td4??9(??d???) 063328d??i???????3?????.???=?S???????N???S?? ?.22006,33(4).2451??452 ?12??????????143???????????????1????????(80 ??)????????(63??)d4?????????e?i???????3????,???? ?????e???K?2?O?????????;???0????d4????:2?????M?N ?????????????????h???4(P>0105);?e?I?????????h?? ????(EOS)??????,???????????2?2???????????6?????h ???4(P<0101),?)?????????????2???????????h???4(P >0105);2?????M?N??????????,?N?????3???6?????h?? ?4(<15),???6?????6???????h???4(<1)d4?? ??(??????) 633d??i???????a?????????????M???????????? ???????????S???2 ?963???i??????????????????2006???R25???R5?M ?? 17 021420 P00P0011 1 029 .