24-浜岀鍩鴻嫰閰?

＂鎮ｅ効鍑虹敓鏃跺ぇ澶氳〃鐜版甯革紝鏂扮敓鍎挎湡鏃犳槑鏄劇壒孌婄殑涓村簥鐥囩姸錛岄儴鍒嗘偅鍎垮彲鑳藉嚭鐜板杺鍏誨洶闅俱€佸憰鍚愩€佹槗嬋€鎯圭瓑闈炵壒寮傛€х棁鐘躲€傛湭緇忔不鐤楃殑鎮ｅ効3鍀?涓湀鍚庨€愭笎琛ㄧ幇鍑烘櫤鍔涖€佽繍鍔ㄥ彂鑲茶惤鍚庯紝澶村彂鐢遍粦鍙橀粍錛岀毊鑲ょ櫧錛屽叏韜拰灝挎恫鏈夌壒孌婇紶鑷懗錛屽父鏈夋箍鐤廣€?br />闅忕潃騫撮緞澧為暱錛屾偅鍎挎櫤鍔涜惤鍚庤秺鏉ヨ秺鏄庢樉錛屽勾闀垮効綰?0%鏈変弗閲嶇殑鏅鴻兘闅滅銆?/3鎮ｅ効鏈夎交寰殑絏炵粡緋葷粺浣撳緛錛屽鑲屽紶鍔涘楂樸€佽叡鍙嶅皠浜㈣繘銆佸皬澶寸暩褰㈢瓑錛屼弗閲嶈€呭彲鏈夎剳鎬х槴鐥€傜害1/4鎮ｅ効鏈夌櫕鐥彂浣滐紝甯稿湪18涓湀浠ュ墠鍑虹幇錛屽彲琛ㄧ幇涓哄┐鍎跨棄鎸涙€у彂浣溿€佺偣澶存牱鍙戜綔鎴栧叾浠栧艦寮忋€傜害80%鎮ｅ効鏈夎剳鐢靛浘寮傚父錛屽紓甯歌〃鐜頒互鐧棲鏍鋒斁鐢典負涓夥紝緇忔不鐤楀悗琛€Phe嫻撳害涓嬮檷錛岃剳鐢靛浘浜︽槑鏄炬敼鍠勩€侾KU鎮ｈ€呴櫎浜嗗獎鍝嶆櫤鑳藉彂鑲插錛屽彲鍑虹幇涓€浜涜涓恒€佹€ф牸鐨勫紓甯革紝濡傚咖閮併€佸鍔ㄣ€佽嚜鍗戙€佸鍍葷瓑銆?br />鏍規嵁涓嶅悓鐨勪複搴婄被鍨嬶紝PKU鍙垎涓猴細1.緇忓吀鍨婸KU(classicalPKU)鐥呭効鏈夊吀鍨嬬殑涓村簥琛ㄧ幇錛屾湁紼嬪害涓嶇瓑鐨勬櫤鑳戒綆涓嬶紝60%灞為噸搴︿綆涓?IQ浣庝簬50)銆傜害1/4鐥呭効鏈夌櫕鐥彂浣溿€傛偅鑰呭ご鍙戙€佺毊鑲ら鑹叉祬娣★紝灝挎恫銆佹睏娑蹭腑鏁ｅ彂鍑洪紶鑷懗錛屼即鏈夌簿絏炶涓哄紓甯搞€傝Phe嫻撳害>1200渭mol/L(20mg/dl)錛屽翱FeCl3??鍜孌NPH璿曢獙寮洪槼鎬с€?br />2.涓害鍨婸KU(moderatePKU)涓村簥琛ㄧ幇鐩稿杈冭交錛屽疄楠屽媯€鏌ョ粨鏋滃悓緇忓吀鍨婸KU錛屼絾鏄鑻笝姘ㄩ吀鍦?60鍀?200渭mol/L錛屾偅鍎垮娌葷枟鍙嶅簲杈冨ソ錛岃鑻笝姘ㄩ吀嫻撳害杈冪粡鍏稿瀷鎮ｈ€呮槗鎺у埗銆?br />3.杞誨瀷PKU(mildPKU)涓村簥琛ㄧ幇杈冭交鎴栬€呮棤鐥囩姸錛岃鑻笝姘ㄩ吀灝忎簬120鍀?60渭mol/L錛岃浜庢瀬灝戞暟鏂扮敓鍎挎垨鏃╀駭鍎匡紝鎴栬€呰嫰涓欐皚閰哥緹鍖栭叾孌嬩綑閰舵椿鎬ц緝楂樿€呫€?br />4.鍥涙阿鐢熺墿銛跺懁(BH4)緙轟箯鐥囦複搴婁笂灝嗘墍鏈夎鑻笝姘ㄩ吀>120渭mol/L縐頒負楂樿嫰涓欐皚閰歌鐥囷紝浠庣棶鍥犱笂灝嗛珮鑻笝姘ㄩ吀琛€鐥囧垎浜屽ぇ綾夥細鑻笝姘ㄩ吀緹熷寲閰剁己涔忓拰PAH鐨勮緟閰垛€斺€斿洓姘㈢敓鐗╄澏鍛?tetrahydrobiopterin錛孊H4)緙轟箯銆備袱綾婚珮鑻笝姘ㄩ吀琛€鐥囨不鐤楁柟娉曚笉鍚岋紝鏃╂湡閴村埆璿婃柇鍗佸垎閲嶈銆?br />BH4緙轟箯鐥囧張縐伴潪緇忓吀鍨婸KU鎴栨伓鎬KU錛岀敱浜嶱AH杈呭姪鍥犲瓙BH4緙轟箯鎵€鑷淬€傛偅鍎塊櫎浜嗘湁鍏稿瀷PKU琛ㄧ幇澶栵紝絏炵粡緋葷粺琛ㄧ幇杈冧負紿佸嚭錛屽韜共鑲屽紶鍔涗笅闄嶏紝鍥涜偄鑲屽紶鍔涘楂橈紝涓嶈嚜涓昏繍鍔紝闇囬ⅳ錛岄樀鍙戞€ц寮撳弽寮狅紝欏藉滻鎬ф儕鍘ュ彂浣滅瓑銆侭H4緙轟箯鐥囪€呭崟鐙敤浣庤嫰涓欐皚閰擱ギ椋熸不鐤楀彲浣胯鑻笝姘ㄩ吀嫻撳害涓嬮檷錛屼絾絏炵粡緋葷粺鐨勭棁鐘朵粛鍛堟寔緇€ц繘灞曘€傝鐥呯殑鍙戠敓鐜囧崰PKU鐨?0%宸﹀彸錛屽洜姝ゅ鎵€鏈夐珮鑻笝姘ㄩ吀琛€鐥囬兘搴旇繘琛屽父瑙勯壌鍒瘖鏂€侰T鍜孧RI媯€鏌ュ彲瑙佽繘琛屾€ц剳钀庣緝銆傝瘖鏂富瑕佷緷闈燞PLC嫻嬪畾灝誇腑鏂拌澏鍛?N)鍜岀敓鐗╄澏鍛?B)銆傚鍥?-涓欓叜閰板洓姘㈣澏鍛ゅ悎鎴愰叾(PTPS)緙轟箯鏃舵墍鑷寸殑BH4緙轟箯鐥囷紝灝誇腑鏂拌澏鍛ゆ槑鏄懼鍔狅紝N/B澧為珮錛孊%＂

＂(涓€)鍙戠棶鍘熷洜鏈棶灞炲父鏌撹壊浣撻殣鎬ч仐浼犳€х柧鐥咃紝緋昏嫰涓欐皚閰鎬唬璋㈤€斿緞涓叾鐨勭己闄鋒墍鑷淬€?br />(浜?鍙戠棶鏈哄埗鑻笝姘ㄩ吀(phenylalanine錛孭he)鏄漢浣撳繀闇€姘ㄥ熀閰革紝椋熷靉浣撳唴鐨凱he涓€閮ㄥ垎鐢ㄤ簬錏嬬櫧璐ㄧ殑鍚堟垚錛屼竴閮ㄥ垎閫氳繃鑻笝姘ㄩ吀緹熷寲閰朵綔鐢ㄨ漿鍙樹負閰皚閰革紝浠呮湁灝戦噺鐨凱he緇忚繃嬈¤鐨勪唬璋㈤€斿緞鍦ㄨ漿姘ㄩ叾鐨勪綔鐢ㄤ笅杞彉鎴愯嫰涓欓叜閰搞€?br />PKU鏄洜鑻笝姘ㄩ吀緹熷寲閰?phenylalaninehydroxylase錛孭AH)鍩哄洜紿佸彉瀵艱嚧PAH媧繪€ч檷浣庢垨涓уけ錛孭he鍦ㄨ倽鑴忎腑浠ｈ阿緔婁貢鎵€鑷淬€侾KU鎮ｈ€呰嫰涓欐皚閰哥緹鍖栭叾緙轟箯錛岄叒姘ㄩ吀鍙婃甯鎬唬璋駭鐗╁噺灝戯紝琛€Phe鍚噺澧炲姞錛屽埡嬋€杞皚閰跺彂鑲詫紝嬈¤浠ｈ阿閫斿緞澧炲己錛岀敓鎴愯嫰涓欓叜閰搞€佽嫰涔欓吀鍜岃嫰涔抽吀錛屽苟浠庡翱涓ぇ閲忔帓鍑猴紝鏁呯О鑻笝閰翱鐥囥€傝嫰涔抽吀浣挎偅鍎垮翱娑插叿鏈夌壒孌婄殑榧犲翱鑷懗銆傞珮嫻撳害鐨凱he鍙婂叾寮傚父浠ｈ阿浜х墿鎶戝埗閰皚閰擱叾錛屼嬌榛戣壊緔犲悎鎴愰殰紕嶃€侾he澧為珮褰卞搷鑴戝彂鑲詫紝瀵艱嚧鏅鴻兘鍙戣偛钀藉悗鍙婂嚭鐜板皬澶寸暩褰€佹娊鎼愮棄鎸涚瓑絏炵粡緋葷粺鐥囩姸銆?br />PKU鐨勯仐浼犵壒鐐規槸錛氣憼鎮ｅ効鐖舵瘝閮芥槸鑷寸棶鍩哄洜鎼哄甫鑰?鏉傚悎瀛?;鈶℃偅鍎?ahref=＂＂http://jbk.39.net/keshi/pifu/pifubing/490b3.html＂＂target=＂＂_blank＂＂class=blue>鐥堟敼鐖墮灟鐜彮妗撻矉鉶忋€?棰?璋翠孩鐚?鈶㈡偅鍎挎瘝浜叉瘡嬈＄敓鑲叉湁1/4鍙兘涓篜KU鎮ｅ効;鈶ｈ繎浜茬粨濠氱殑瀛愬コ鍙戠棶鐜囪緝涓€鑸漢緹や負楂樸€?br />浜虹被PAH鍩哄洜浣嶄簬絎?2鍙鋒煋鑹蹭綋涓?12q22鍀?2q24.1)錛孭AH鍩哄洜鍏ㄩ暱綰?0kb錛屾湁13涓鏄懼瓙鍜?2涓唴鍚瓙錛屽鏄懼瓙闀垮害鍦?7鍀?92bp涔嬮棿錛屾垚鐔焟RNA綰?.4kb錛岀紪鐮?51涓皚鍩洪吀銆傚唴鍚瓙闀垮害涓?鍀?3kb涓嶇瓑銆傞殢鐫€鍒嗗瓙鐢熺墿瀛︽妧鏈殑鍙戝睍錛屽寳浜€佷笂嫻風瓑鍦板凡緇忓紑灞曠敤鍗曢摼鏋勫瀷澶氭€佹€у垎鏋?SSCP)銆佸彉鎬ф搴﹀嚌鑳剁數娉?DGGE)銆佹俯搴︽搴﹀嚌鑳剁數娉?TGGE)銆佺偣鏉備氦鍙奃NA搴忓垪鍒嗘瀽絳夋妧鏈PKU鐥呬漢榪涜鍩哄洜鍒嗘瀽錛屽湪涓浗浜虹兢涓彂鐜頒簡30縐嶄互涓婂熀鍥犵獊鍙?琛?)錛屽彂鐜板鏄懼瓙7鍜?2鐨勭獊鍙樺崰鐨勬瘮渚嬬溮瀵矽緝楂樸€傚叾涓湁涓€浜涙槸涓浗浜虹壒鏈夌殑紿佸彉浣擄紝榪欎簺鍩哄洜紿佸彉鍒嗗埆瀵艱嚧姘ㄥ熀閰哥疆鎹€佺炕璿戞彁鏃╃粓姝€乵PNA鍓垏寮傚父銆侀槄璿繪鏋剁Щ浣嶇瓑銆?