Lesch - Nyhan syndrome: ifoto lilifa, oonobangela, iimpawu, unyango

Lesch syndrome - Nyhan zibangelwa izifo amafa ezihlobene nokuphazamiseka metabolic. Isifo kubonakala kwiinyanga zokuqala zobomi. Oku kuyingozi kuba akukho ngokuchasene kwanonyango ethile. Unyango kunceda kuphela ukuzinzisa le meko, kodwa hayi ngokupheleleyo aphilise umntwana, ukuchaza oyena nobangela. Ziintoni iimpawu kwesi sifo? Yintoni na ke ukuba umntu onjalo syndrome?

definition

Phakathi izifo nekunqabileyo purine yokucolwa cell engaqhelekanga Lesch - Nyhan. syndrome kwenzeka kakhulu emakhwenkweni, njengoko ezinxulumene X-chromosome. It kunokuba- imibala enzyme, nto leyo ekhokelele ngokutshintshiselana uric acid yaphulwe, ubungakanani bayo kwandisa. Ukwenyuka weli iboniswa ibonwa ezisecaleni kunye pathways luvo kwaye kuyo ingakrokreleka izifo. Ukuziphatha engaqhelekanga wosana kufuna axilongwe, leyo iquka ukuhlanganiswa kunye nocazululo uviwo olufanayo yemfuza.

umyalezo weimeyile

Yintoni na le syndrome sizathu Lesch - Nyhan? Izinto ezibangela le sifo zisekelwe ukuphazamiseka yemfuza. Oku kuthetha ukuba uphuhliso ngezifo lobukho kukho sofuzo kwi unina - isiphene enxulumene sex-. Iinkcukacha zenkqubo zichazwe ngezantsi. Ubukho bale gene ayisoloko kukhokelela kuphuhliso onaso - linokuba yi-25%. Ukuze kuhlolwe ubungozi sifo, kucetyiswa ukwenza unyango neengcebiso and genetic.

yokugula

Syndrome Lesch - Nyhan (imo sofuzo abalilifa kuye, sex-edityaniswe) sisifo esibi ilifa. Oku kunxulumene neqela sisilonda esidumbileyoesingaphakathi lwe HPRT sofuzo (hypoxanthine-guanine phosphoribosyltransferase), nto leyo ifumaneka kwi-X-chromosome - on ingalo yayo emide. Xa abafazi, kukho loo zofuzo ezimbini kunye namadoda enye, nto leyo esisizathu sokuba iziphazamiso zemvelo ixhaphake kakhulu ngabantu. Le amatyala sifo ngo iintokazi inqabile; imbonakalo yawo ekunokuthiwa X-inactivation.

izinto eziphilayo

Ngenxa enzyme ukuphazamiseka wabonakalisa syndrome Lesch - Nyhan. Eziphilayo kuba ukuswela hypoxanthine-guanine. Phantsi kweemeko eziqhelekileyo, le enzyme ikhona kuzo zonke iiseli, kodwa eyona nto ifumaneka inani luvo ebuchotsheni. ukuphazamiseka kwezakhi kukhokelela engekho, nto leyo hypoxanthine exchange ukuphazamiseka. Oku kuvelisa izixa ngokugqithiseleyo uric iasidi ibanjiwe yi zePCR Umchamo negazi. Yiloo nto izigulane kufuneka iimpawu sifo.

Amanqaku ulwelo fluid. It kwandisa inqanaba hypoxanthine, hayi uric acid. Oku kubangela abanala makhwiniba neurologic, kwaye uric acid ngalo umqobo ngegazi-ingqondo ukuba ungadluli. Le umyalezo ukuphazamiseka zokuziphatha azikho okwangoku ifakiwe. Izazinzulu musani iyihlanganise kunye agqithisile hypoxanthine kunye uric acid. Kukholelwa ukuba hyperuricemia ikhokelela yokungabikho dopamine. hypersensitivity wabumba D1-receptors elise-luvo striatal. Oku kukhokelela ekwandeni ndlongo.

kubonakaliswa clinical

Ekubeni izifo genetic ezinxulumene ngayo syndrome kubonakala Lesch - Nyhan. Iimpawu izifo kuqala ibonisa umonakalo luvo. Izigulane unexhala mazwi unditsho, ngoxa amahlaba ubambe ezinye amaqela kwezihlunu. giperkinezy kwakhona eqhelekileyo, wabonakalisa twitching amalungu ngenxa yokunyuka ezizenzekelayo ngethoni kwezihlunu. Abantwana nalo syndrome usesemva emva kuphuhliso ngokwasemzimbeni nasengqondweni: intetho wabo slurred, mhlawumbe emva kwexesha start ukuhamba. Ifuthe umsebenzi we-luvo vagus kukhokelela ekwandeni reflex gag: isisu yokulahla kwenzeka ngaphandle kwesizathu. Ukongeza, zizihlunu rhoqo kunye sokuwa. Esi sifo ezinxulumene nokuphazamiseka pathways, ngaloo ndlela ebangela iimpawu ezithile. Ngosuku, ngokuqhelekileyo, isixa esikhulu umchamo, nto leyo enxulumene noko ngezifo lunxano rhoqo kunye sezintso. Uric acid okongezeleke kwi earlobes, ekhokelela kuseko ekuthiwa tophi. Umchamo kubonakele ziikristale acid uric ukuba umbala-orenji. Ngaphaya koko, inkqubo ababandakanyekayo amalunga, ngokuqhelekileyo amancinane. Baba ukuphuhlisa ukudumba - samathambo.

ukuziphatha

Ngaba yokuphila kunye nemikhwa esi sifo Lesch - Nyhan? Syndrome kakhulu ukutshintsha indlela yokuziphatha yomguli ngenxa CNS. Umntwana uba angonwabi gqitha, Wayeba esoloko itshintsha. Ingakumbi iziqephu Kuyaphawuleka bundlobongela enokuthi yenzeke ngaphandle kwesizathu nangaliphi na ixesha. Aba bantwana bathanda self-umonakalo, ukuba njengangoku lisetyenziswe ukulunywa kunye imikrwelo. Kucingwa ukuba uphawu uphawu le ngezifo. Ngisho uvakalelo ngokupheleleyo iintlungu akayeki izigulane. Basenokuba kukhala buhlungu, kodwa qhubeka ibangela self-yingozi.

ekuxilongweni

Uxilongo "syndrome Lesch - Nyhan" (iifoto izigulana thaca kwinqaku) lusekelwe kuxilonga aze yenze uphando ekhethekileyo olongezelelweyo. Cebisa ngezifo uncedo ezintathu uphawu main. Nikelani ingqalelo ukuya kwizigulo izihlunu indalo convulsive, notyekelo lokuzimela umonakalo polyuria. A indima ekhethekileyo idlalwa trauma ngokwayo ekufuneka lokwazisa abazali. Emva kokuchaza iimpawu umntwana wathumela kumchamo ze uhlalutyo negazi. Eziphilayo ziya kuqinisekisa umgangatho uric acid kwezi iziselo eziphilayo. Kuyimfuneko ukwenza zoviwo yemfuza, eyaqinisekisa uxilongo. Kucetyiswa ukuba ultrasound sezintso ukubona ngezifo kubo. Emva kokungqina kwesifo umntwana esoloko ibhaliswe emine kunye wamathambo.

unyango

iindlela amayeza and non-amayeza ukunceda ukulungisa syndrome Lesch - Nyhan. Unyango ijolise ekuthinteleni ingxaki nokuziphucula. Ukunciphisa umngcipheko ukuyilwa ukusilela kwezintso ndinciphe umgangatho acid uric, oya kufikelela "Allopurinol". Kucetyiswa ukuba basebenzise "Diazepam" ukubazolisa isigulane kunye nokuvala amalinge ukuba umonakalo ngokwayo. Unakho ukufumana ezinye nadlamkisayo. Ukongezelela kwintswelo ukugcina ukulawula ukuziphatha. Xa uhlasela nodlame unganika "Risperidone". Ngaphezulu, kufuneka ukuphelisa iimeko uxinezeleko. Oku kuya kunceda isigulane ukuqhelana bume aze angene ukunxibelelana nabanye abantu. Inkxaso iintsapho yinto ebalulekileyo eza kunceda ukulungisa ukuziphatha. diapering acetyiswayo okanye iiglavu ethambileyo ukuze sizikhusele self-engozini. ukuba siye wabhenela ukususwa kwamazinyo, ukwenzela ukuthintela izinja. Okwangoku, uphuhliso amayeza, ezifana bamazinyo, evumela ukusetyenziswa amacwecwe ezizodwa, apho ibekwe phezu amazinyo, ngaphandle ubuhlungu kumguli.

ukungaphili

Kanye ezimbi kakhulu, kukho iingxaki kunye nesifo Lesch - Nyhan. Le syndrome kungakhokelela ekubeni iziphumo ezinxulumene ukuqokelela uric acid kunye hypoxanthine. Ezi ukuphazamiseka kungabenza bufutshane ubomi kunye nokuthintela obuqhelekileyo ukuziqhelanisa eluntwini. Phakathi izifo yabonisa - samathambo kunye nephrolithiasis.

ukudumba Joint unxulunyaniswa yokuhlawula yonke uric acid. ziikristale Cluster ngayo lineziphumo yonakalisa kwi intlala inyama kunye nemvelo yalo. Ngokuqhelekileyo luchaphazela amalungu iinyawo nezandla. Entsimini ukudumba kuvela bomzimba kunye bomvu. Iintlungu syndrome kwandisa ngentshukumo.

Nephrolithiasis (amatye kwizintso okanye) kungabangela iingxaki ezifana pyelonephritis. Le nkqubo yokukrala iquka isinqe sezintso. Usulelo zingasasazwa okanye urinogennym hematogenous kwaye abakugwayimbo inyama kunye interstitium. Xa uthatha inxaxheba kwinqanaba okondeleyo ukudumba izakufunyanwa vuhlayiseki iinkqubo sclerosis. uphuhliso sifo kukhokelela ekumisweni insufficiency kakhulu sezintso. Eyona nto iyingozi kukutshintsha lweziqalelo noshowo inyama nokuqina le kwizintso, kubhaliwe lisenza one umsebenzi wayo - ukwabiwa kwezinto zomzimba ngokungeyomfuneko.

Ezi iimpawu zokugula Lesch - Nyhan. Syndrome nokuba uyabulala ngokupheleleyo. Amayeza ejoliswe ekunciphiseni iimpawu zonyango kunye karhulumente nozinzo. indima ebalulekileyo kule wayedlala neemeko okusingqongileyo kunye zokuphila nomonde.