姘ㄥ熀閰镐唬璋㈠紓甯歌璇婄巼
璇鸿鎮f湁鐢插熀涓欎簩閰歌鐥囷紝杩欐槸涓€绉嶇綍瑙佺殑姘ㄥ熀閰镐唬璋㈤殰纰嶇柧鐥咃紝鎹姤閬擄紝鎴戝浗澶ч檰鍦板尯鍙戠梾鐜囨槸28000鍒嗕箣涓€锛屽叾涓?0%浠ヤ笂鏄敞灏勯挻鑳虹礌鏈夋晥鏋滅殑锛岃€岃璇哄睘浜庡墿浣?0%澶氭敞灏勫悗鏃犳晥鐨勶紝涔熷氨鏄锛屽崄涓囧鍚嶆柊鐢熷効閲岋紝鎵嶆湁涓€涓璇鸿繖鏍风殑瀹濆疂銆?br/>
鎴戜滑鍙備笌鐨勭綍瑙佺梾鍏崇埍璁″垝-涓汉姹傚姪 杩樺湪杩涜涓紝杈涜嫤澶у鐐瑰嚮馃憠 缃曡鐥呭叧鐖辫鍒?/a> 杩涘叆鎹愭,甯府鎴戠殑濂冲効&鎴戜滑涓€瀹讹紝璋㈣阿鍚勪綅鐖卞績浜哄+锛侊紒
铏界劧鍗曚竴鐥呯鐨勫疂瀹濆緢灏戯紝浣嗘偅浠h阿鐥呯鐨勬湁寰堝锛屼緥濡備笝閰歌鐥囥€侀珮姘ㄨ鐥囥€佹灚绯栧翱鐥囥€佷笝浜岄吀琛€鐥囩瓑鈥﹀姞璧锋潵涓嶆瘮甯歌鐥呯殑鎮h€呭皯锛屾垜浠浗瀹朵篃涓€鐩村湪鑷村姏浜庢帹鍔ㄤ复搴婁笂瀵逛簬缃曡鐥呯殑璇婄枟銆?br/>
2017骞存槸璇鸿琚‘璇婄殑绗竴骞达紝杩樿寰楅偅骞寸殑鏌愬ぉ鏅氫笂锛屽嚑涓湀澶х殑璇鸿蹇界劧鍛曞悙锛屽綋鏃剁殑鎴戜滑杩樹笉浜嗚В鈥滅綍瑙佺梾鈥濇剰鍛崇潃浠€涔堬紝鎶辩潃瀛╁瓙鍘讳簡鏈€杩戠殑鍖哄骞兼寕鎬ヨ瘖銆傛€ヨ瘖鍖荤敓闂粈涔堢梾锛屾垜璇达細鈥滅敳鍩轰笝浜岄吀琛€鐥囷紝楹荤儲鎮ㄥ揩鐐瑰効妫€鏌モ€濓紝鍖荤敓鐪嬬潃鎴戞劊浜嗭細鈥滄垜娌″惉杩囪繖涓梾鍟婏紝寮€浜嗘鏌ユ垜涔熶笉浼氱湅鍟婏紒鈥濇棤濂堟垜浠彧寰楁姳鐫€璇鸿璧剁揣鍐嶅寰€鍑犲崄鍏噷澶栫殑鍖婚櫌……
2018骞达紝璇鸿纭瘖鐨勭浜屽勾锛屾垜鍐嶆鍓嶅線鍖哄骞硷紝鎬ヨ瘖绉戠殑鍖荤敓宸茬粡澶ц嚧鍚杩団€滅敳鍩轰笝浜岄吀琛€鐥団€濓紝铏界劧涓嶆噦娌荤枟锛屼絾浼氬缓璁垜浠鍘诲摢涓尰闄€佹壘鍝釜涓撳浜嗐€?br/>
2019骞达紝鍖哄骞肩殑鍖荤敓宸茬粡鎳傚緱濡備綍鎬ユ晳浜嗭紒杩欐牱涓€鏉ワ紝瀛╁瓙姣忔鍙戠梾鎴戜滑灏变笉鐢ㄥ啀璺戝線鍑犲崄鍏噷澶栦簡锛?br/>
2020骞达紝鏄璇虹‘璇婄鍥涘勾锛屽綋鎴戝啀娆℃寕鍖哄骞肩殑鎬ヨ瘖锛屾垜鎯婂枩鍦板彂鐜帮紝鍖荤敓宸茬粡鑳藉涓庢垜娌熼€氳璇虹殑娌荤枟鏂规浜嗐€傛垜鐪嬬潃鍖荤敓鎷跨潃璇鸿鐨勮姘斿垎鏋愭姤鍛婏紝浠旂粏鏌ョ湅鍚庤锛氣€滃厛绾犻吀鍚э紝鏄笉鏄鍐嶈ˉ涓恫鎵╁涓€涓嬶紵鈥濆綋鏃舵垜绠€鐩村枩鍑烘湜澶栵紒
鎴戜滑甯屾湜璇鸿鍙互缁х画鍧氬己鐨勫鎶楃敳鍩轰笝锛佹垜浠搴悜绀句細鐖卞績浜哄+杩涜浜嗘眰鍔╋紝甯屾湜鑳藉寰楀埌澶у鐨勫府鍔╋紒聽鎰熻阿澶у鐨勬敮鎸侊紒鎮ㄥ彲鐐瑰嚮馃憠聽 缃曡鐥呭叧鐖辫鍒?/a> 杩涘叆鎹愭甯姪銆佸府甯璇猴紝甯府鎴戜滑瀹舵浮杩囬毦鍏筹紒
甯屾湜鎵€鏈夊湴鏂圭殑鍖荤敓閮借兘鍍忔垜浠繖鐨勫尰鐢熶竴鏍凤紝甯屾湜鏈夋洿澶氱殑鍖荤敓鍜屼笓瀹舵効鎰忕爺绌剁敳鍩轰笝浜岄吀琛€鐥囷紝甯屾湜鐤剧梾鏃╂棩琚敾鍏嬶紒
鍥句竴锛氬洜涓鸿倢寮犲姏鐨勯棶棰橈紝璇鸿姣忔涓嬫ゼ姊兘瑕佽姳鍗佸嚑鍒嗛挓
鍥句簩锛氱柅鎯呭師鍥犳ゼ閬撻噷蹇呴』鎴村彛缃╋紝璇鸿鐖ゼ姊細寰堝枠锛屽彧鑳藉甫濂瑰幓鎴峰鐖ゼ姊粌涔犮€?/div>
鏋硸灏跨梾涓ラ噸鍚?/strong>
鏋硸灏跨梾鍏跺疄鏄竴绉嶉仐浼犳€ф敮閾炬皑鍩洪吀浠h阿闅滅鎬х柧鐥咃紝璺熺硸灏跨梾杩樼湡娌″暐鍏崇郴锛?/p>
浣滆€呬辅鎶婇槼鍏夊煁杩涘湡澹?/strong>
鏉ユ簮涓ㄥ尰瀛︾晫鍐呭垎娉岄閬?/strong>
鐪嬪埌鈥滄灚绯栧翱鐥呪€濊繖鍑犱釜瀛楋紝鏄笉鏄緢澶氫汉閮戒細浠ヤ负鏄硸灏跨梾鐨勪竴绉嶇壒娈婄被鍨嬪憿锛屽氨绠椾笉鏄紝閭d箞鏄笉鏄偗瀹氭湁鏌愪簺鐗规畩鐨勫叧绯诲憿锛熸灚绯栧翱鐥呭張鍒板簳鏄浠€涔堟牱鐨勭柧鐥呭憿锛?/p>
鎻紑鏋硸灏跨梾鐨勭绉橀潰绾?/p>
鏋?绯?灏?鐥?锛圡SUD锛?鏄竴绉嶇綍瑙佺殑浠ユ敮閾炬皑鍩洪吀锛圔CCAs锛変唬璋㈠紓甯镐负涓昏琛ㄧ幇鐨勫父鏌撹壊浣撻殣鎬ч仐浼犵梾锛屽洜鎮h€呭翱娑蹭腑鐙壒鐨勬灚绯栭鐢滄皵鍛宠€屽緱鍚峓1]銆?/strong>鐪嬩簡瀹冪殑姒傚康锛屽ぇ瀹跺簲璇ヨ兘澶熸槑鐧斤紝瀹冨拰绯栧翱鐥呭悓灞炰唬璋㈠紓甯革紝涓嶅悓鐨勬槸鏋硸灏跨梾鏄敮閾炬皑鍩洪吀鐨勪唬璋㈠紓甯革紝骞朵笖鏄竴绉嶉仐浼犵梾鍝︺€傝鐥呮瘮杈冪綍瑙侊紝鍥藉唴鍙戠梾鐜囩害涓?/200000-1/300000,澶氬湪鏂扮敓鍎垮彂鐥咃紝鏃╂湡涓村簥琛ㄧ幇澶氱己涔忕壒寮傛€э紝澶氫互鍠傚吇鍥伴毦銆佸棞鐫°€佽倢寮犲姏澧為珮浠ュ強鐗规畩鐨勬灚绯栧翱鍛充负涓昏鐨勪复搴婅〃鐜帮紝闅忕潃鐥呮儏杩涘睍锛屽嚭鐜版娊鎼愩€佹槒杩峰強鍏ㄨ韩琛扮鐨勭棁鐘躲€?/p>
BCCAS浠h阿寮傚父鐨勬牴婧愨€斺€擝CKAD缂洪櫡
鏀摼姘ㄥ熀閰革紙BCAAs锛夊寘鎷寒姘ㄩ吀銆佺棘姘ㄩ吀銆佸紓浜皑閰革紝BCCAs鐨勫垎瑙d唬璋㈠姝e父浜虹殑鐢熺悊鍔熻兘鑷冲叧閲嶈[2]锛屾甯告儏鍐典笅锛孊CCAs棣栧厛鍦ㄧ嚎绮掍綋鍐呯粡姘ㄥ熀閰歌浆绉婚叾鐨勪綔鐢ㄨ浆鍖栨垚瀵瑰簲鐨勎?閰吀锛屾帴鐫€鍦ㄎ?閰吀鑴辨阿閰跺鍚堜綋(BCKAD)鐨勪綔鐢紝瀵刮?閰吀杩涜姘у寲鑴辩晶鎴愪箼閰颁箼閰搞€佺惀鐝€閰拌緟閰禔,涔欓叞杈呴叾A銆傝繖閲孊CKAD鍖呮嫭鑴辩晶閰讹紙鍖呮嫭 E1伪鍜孍1尾浜氬熀锛?浜屾阿纭緵閰拌兒閰板熀杞Щ閰讹紙E2浜氬熀锛夊拰浜屾阿纭緵閰拌兒閰板熀鑴辨阿閰讹紙E3浜氬熀锛夈€?/p>
鎴戜滑鐨勬灚绯栧翱鐥呮偅鑰呬究鏄湪杩涜绗簩姝ュ垎瑙d唬璋㈠嚭鐜颁簡闂锛屾敮閾炬皑鍩洪吀浠h阿杩囩▼涓噸瑕佺殑閰禕CKAD澶嶅悎浣撶己闄凤紝杩涜€屽鑷碆CCAS鍦ㄦ偅鑰呬綋鍐呰搫绉紝鎹熷浜嗘偅鑰呯殑鍏嶇柅鍔熻兘銆侀楠艰倢浠ュ強澶ц剳锛屽嚭鐜颁簡涓婅堪涓ラ噸鐨勭棁鐘躲€傛瘮杈冩湁瓒g殑鏄疊CCAs浠h阿寮傚父鍜岃儼宀涚礌鎶垫姉銆?鍨嬬硸灏跨梾涔熸湁鍏冲憿[3]锛岃繖鎴栬涔熸槸鏋硸灏跨梾鍜岀硸灏跨梾鐨勪竴鐐规笂婧愬惂锛?/p>
BCAD缂洪櫡鐨勬牴婧愨€斺€旂紪鐮丅CAD鍩哄洜寮傚父
鏋硸灏跨梾鍙牴鎹彂鐥呭勾榫勩€佺棁鐘剁殑涓ラ噸鎬с€佸娌荤枟鐨勫弽搴旀€т互鍙婄敓鍖栫壒鐐瑰垎涓虹粡鍏稿瀷銆?涓棿鍨?銆?闂存瓏鍨?銆?纭兒绱犲弽搴斿瀷 銆?浜屾阿纭緵閰拌兒鑴辨阿閰剁己涔忎钩閰镐腑姣掑瀷锛曠浜氬瀷锛堣琛?锛塠4]銆?/p>
鍦ㄦ墍鏈夌被鍨嬩腑浠ョ粡鍏稿瀷鏈€甯歌锛?strong>鏂扮敓鍎挎湡鍙戠梾澶氬睘姝ゅ瀷锛屽叾BCKAD鐨?娲绘€у父涓嶅埌姝e父鎮e効鐨勶紥锛呫€傛偅鍎垮嚭鐢熸椂寰€寰€琛ㄧ幇姝e父锛岀敓鍚庯紨锝烇紬澶╁嚭鐜扮棁鐘跺苟閫愭笎鍔犻噸锛岃〃鐜颁负鍡滅潯銆佷綋閲嶅噺杞汇€佷唬璋㈢磰涔憋紝杩涜鎬ц倢寮犲姏澧為珮涓庤倢寮犲姏鍑忎綆浜ゆ浛鍑虹幇鎻愮ず涓ラ噸鑴戠梾锛屾偅鍎挎瀬鏄撳嚭鐜版娊 鎼愪笌鏄忚糠锛屾湭娌荤枟鑰呭父浜庣煭鏈熷唴姝讳骸 [4]銆?/p>
琛? MSUD鍒嗗瀷鍙婄壒鐐?/strong>
鏋硸灏跨梾鏉ュ娍姹规惫鈥斺€旀棭鏈熻瘖鏂緢閲嶈
閴翠簬MSUD鍙戠梾骞撮緞鐩稿杈冨皬锛屽瀛愪笉浼氳鍙細闂癸紝涓斿浠ョ缁忕郴缁熺棁鐘朵负涓伙紝鍥犳锛屾湭缁忕瓫鏌ョ殑MSUD鎮e効鏋佹槗璇瘖涓鸿触琛€鐥囥€佺缁忕郴缁熺柧鐥呭強鍏朵粬瀵艰嚧鎯婂帴鐨勭柧鐥咃紝濡傜己姘х己琛€鎬ц剳鎹熶激銆佷綆琛€绯栥€佺牬浼ら绛?杩欓渶瑕佷复搴婂尰鐢熼珮搴﹁鎯曪紝闅忕潃鐥呮儏杩涘睍锛岃€冭檻鍒癕SUD鐨勮瘖鏂紝鍥犳鎴戜滑瑕佸鎮e効鍋氬嚭鍏ㄩ潰鐨勭敓鍖栨鏌ヨ涓瑽CAAS姘村钩銆佸翱涓瑽CAAS寮傚父浠h阿浜х墿锛屽繀瑕佹椂杩樺簲璇ヨ繘琛岀浉鍏崇殑鍩哄洜绛涙煡[5]銆?/p>
鏋硸灏跨梾鏃犳硶娌绘剤锛岄渶缁堢敓绠$悊
MSUD纭瘖鍚庤濡備綍娌荤枟鍛紵褰撶劧锛岄鍏堣杩涜鐨勪究鏄檺鍒舵敮閾炬皑鍩洪吀鐨勬憚鍏ワ紝鍦ㄦ€ユ€ф湡闇€瀵圭棁澶勭悊锛岀Н鏋佺籂姝f按鐢佃В璐ㄩ吀纰变唬璋㈠钩琛$磰涔憋紝绾犳浣庤绯栫瓑锛屾湁鏃跺€欑敋鑷抽渶瑕佽娑查€忔瀽锛涘湪鎭㈠鏈熼渶瑕佸MSUD鎮e効杩涜楗鎸囧锛屾瘮杈冩儴鐨勬槸鎮e効鍙兘闇€瑕佺粓韬洃娴嬩綋鍐呮敮閾炬皑鍩洪吀姘村钩銆?/p>
姝ゅ锛孧SUD 鎮e効鍧囬渶甯歌琛ュ厖缁寸敓绱狅饥1锛岀淮鐢熺礌B1涓殑纭兒绱犵劍纾烽吀鐩愭槸浣撳唴澶氱鑴辨阿閰剁殑杈呭姪鍥犲瓙锛屽彲浣挎偅鍎垮楗涓敮閾炬皑鍩洪吀浜х敓鑰愬彈鎴栭檷浣庤娴嗘敮閾炬皑鍩洪吀姘村钩,灏ゅ叾鏄疍BT鍩哄洜绐佸彉鎮e効[5]銆傛湁鎶ラ亾绉帮紝鑲濈Щ妞嶅彲鑳戒笉闇€瑕侀檺鍒舵敮閾炬皑鍩洪吀楗锛屼笖绉绘鍚庝笉浼氬嚭鐜颁唬璋㈢磰涔卞強绁炵粡绯荤粺鎹熷锛屼絾绉绘鍚庢晥鏋滃皻闇€娣卞叆鐮旂┒鍘昏瘉瀹瀃6]銆?/p>
褰撶劧瑕侀棶鏋硸灏跨梾鑳戒笉鑳芥不鎰堬紵寰堥仐鎲撅紝鐩墠鐨勭瓟妗堟槸鍚﹀畾鐨?/strong>锛岃繖鐐瑰€掓槸鍜岀硸灏跨梾涓€鏍凤紝閮芥槸闇€瑕佺粓鐢熺鐞嗗強鎺у埗鐨勭柧鐥咃紒涔熻闅忕潃鍖诲鐨勫彂灞曪紝鍩哄洜娌荤枟浼氬甫缁欐垜浠笇鏈涳紒
鍙傝€冩枃鐚?/p>
[1]Amberger JS,Bocchini CA锛孲chiettecatte F,etal.OMIM.org:Online Mendlian Inheritance in Man(OMIM),an online catalog of human genes and genetic disorders[J],Nucleic Acids Res,2015,43(1):D789-798
[2]Lynch CJ, Adams SH. Branched-chain amino acids in metabolic signaling and insulin resistance. Nat Rev Endocrinol. 2014;10(12):723鈥?36.
[3]Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014;23(R1):R1鈥揜8.
[4]Carecchio M, Schneider SA, Chan H, et al. Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord. 2011;26(7):1324鈥?328.
[5]Frazier DM, Allgeier C, Homer C, et al. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014;112(3):210鈥?17.
[6]Strauss KA, Mazariegos GV, Sindhi R, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant. 2006;6(3):557鈥?64.
鏋硸灏跨梾鏄粈涔堥锛熺硸灏跨梾鐨勪翰鎴氬悧锛?鏋硸灏跨梾涓ラ噸鍚?/strong>
鏋硸灏跨棁锛屾槸涓€绉嶆瀬涓虹綍瑙佺殑甯告煋鑹蹭綋闅愭€ч仐浼犵梾锛屼互鏀摼姘ㄥ熀閰革紙BCCAs锛変唬璋㈠紓甯镐负涓昏琛ㄧ幇锛屽畠鐨勫叏鐞冨彂鐥呯巼浠呬负1/18.5涓囷紝鍥犳偅鍎垮翱娑蹭腑鐙壒鐨勬灚绯栭鐢滄皵鍛宠€屽緱鍚嶃€?br/>
寰椾簡鈥滄灚绯栧翱鐥団€濈殑绯栫硸锛屽ぉ鐢熻韩浣撻噷缂哄皯涓€绉嶉叾锛屽鑷村ス涓嶈兘浠h阿铔嬬櫧璐ㄩ噷鐨勬煇绉嶆皑鍩洪吀锛岄殢鐫€杩欑姘ㄥ熀閰哥殑琛嶇敓鐗╁湪濂逛綋鍐呰搫绉紝瀵硅剳缁勭粐浜х敓绁炵粡姣掓€т綔鐢ㄣ€傜畝瑷€涔嬶紝灏辨槸绯栫硸濡傛灉涓嶅強鏃舵不鐤楋紝濂逛細鍥犱负鍙嶅鍙戜綔鐨勪唬璋㈢磰涔辨垨绁炵粡鍔熻兘闅滅鑰屾浜°€?/div>
添加微信免费咨询