ImpiloIzifo nemibandela

Lesch - Nyhan syndrome: isithombe ifa, izimbangela, izimpawu, ukwelashwa

Lesch syndrome - Nyhan isibaluli izifo lezinceku okuhlotshaniswa iziyaluyalu umzimba. Lesi sifo kubonakala ezinyangeni zokuqala zokuphila. Kuyingozi ngoba ongamelene yokwelapha othize. Ukwelashwa kusiza kuphela ekulinganiseni isimo, kodwa hhayi ululame ingane, umnyombo. Yiziphi izici yini kulumkhuhlane? Kuyini amathuba a syndrome enjalo?

definition

Phakathi iziyaluyalu ezingavamile purine umzimba secrete Lesch normal - Nyhan. syndrome isikhathi esiningi siye sitholakale abafana, njengoba exhumene X-chromosome. It sihlotshaniswa ukuntula enzyme, okwaphumela exchange of uric acid sinqamukile, ubuningi bayo kwandisa. Ukubuthelela yalolu ketshezi kuboniswa ukubonakaliswa eduze futhi umzimba zezinzwa futhi okungase ukugula okusolwayo. Ukuziphatha ongavamile ingane idinga ngihlolwa, okubandakanya ukubuthana futhi ukuhlaziya luhlolo ezivamile zofuzo.

omsakazo

Siyini isizathu syndrome Lesch - Nyhan? Izimbangela lesi sifo zisekelwe izifo ezibangelwa ufuzo. Lokhu kusho ukuthi lezi zindawo zibe khona zokugula ukuba khona a sakhi sofuzo esikhubazayo komama - isici ubulili-ezixhunyiwe. Imininingwane inqubo kuchazwe lapha ngezansi. Ukuba khona yilesi sakhi akusho ngaso sonke isikhathi kungaholela ekwakhiweni yalesi sifo - ematfuba 25%. Ukuze ukuhlola ingozi yesifo, Kunconywa ekufezeni Ukwelulekwa wezokwelapha kanye zofuzo.

eyasithola ngofuzo

Syndrome Lesch - Nyhan (Imodi esikhubazayo yefa, ubulili-exhumene) iyisifo ezinzima ngofuzo. Lihlobene nokubhekana ubuso a lesion we HPRT isakhi sofuzo (hypoxanthine-guanine phosphoribosyltransferase), esemgwaqweni ku-X-chromosome - engalweni yayo eside. Ngo abesifazane, kukhona chromosome amabii ezinjalo kanye nabesilisa babe munye, yingakho kofuzo landile amadoda. Amacala yalesi sifo ngo-abesifazane iyindlala, futhi ukubonakala kwawo akunakubangelwa X-inactivation.

izici kwamakhemikhali

Ngenxa enzyme iziyaluyalu wabonakaliswa syndrome Lesch - Nyhan. Biochemistry kuba nokuntuleka hypoxanthine-guanine. Ngaphansi kwezimo ezivamile, lokhu enzyme likhona wonke amaseli, kodwa iningi butholakala inani izinzwa zobuchopho. kofuzo kuholela ukungabi zakhe okuyoholela okhathazekile exchange hypoxanthine. Lokhu kukhipha esiningi ngokweqile uric acid okuyinto ukutholwa assays e umchamo futhi igazi. Yingakho iziguli unezimpawu sifo.

Izici cerebrospinal fluid. It kwandisa ezingeni hypoxanthine, hhayi uric acid. Lokhu kubangela neurologic kwezinso, futhi uric acid ngokusebenzisa kusivimbeli gazi ebuchosheni ukuze ungadluli. Etiology ka ezibangela ukuziphatha okuyinqaba kungukuthi okwamanje lufakwe khona. Ososayensi musa iyihlanganise ne ngokweqile hypoxanthine futhi uric acid. Kukholakala ukuthi hyperuricemia kuholela ukuntula Dopamine. hypersensitivity Kwakheka D1-receptor elise izinzwa striatal. Lokhu kungaholela ubudlova anda.

ukubonakaliswa emitholampilo

Njengoba izifo ezibangelwa ufuzo ezihambisana nendlela lesi sifo kubonakala Lesch - Nyhan. Ngezimpawu zesifo ngokuyinhloko kubonise ukulimala isimiso sezinzwa. Iziguli ayinandaba Inkulumo Ukudlikizela, kuyilapho amajaqamba ubambe ezinye amaqembu kwemisipha. giperkinezy kuvamile, ebonakaliswa ukunyakazisa izitho zomzimba ngenxa ukwanda sebengavela imisipha ithoni. Izingane nale syndrome emuva e ekuthuthukiseni ngokomzimba nangokwengqondo: inkulumo yabo egwinya, ngokunokwenzeka ngasekupheleni isiqalo ukuhamba. Umthelela umsebenzi we emsipheni vagus kuholela reflex Gag: esiswini bethulula kwenzeka ngaphandle isizathu. Ngaphezu kwalokho, ukukhubazeka njalo futhi zesifo sokuwa. Lesi sifo ezihambisana iziyaluyalu umzimba, kanjalo okubangela izimpawu ezithile. Ngelanga, ngokuvamile, semali umchamo, okuyinto ehlangene zokugula ukoma njalo futhi kwezinso. Uric acid is zanqwabelana izindlebe, okuholela ekwakhekeni okuthiwa tophi. Ngo umchamo Kutholwe uric acid zinhlayiya kokuba umbala owolintshi. Ngaphezu kwalokho, le nqubo amalunga omzimba, ngokuvamile encane. Batfutfukisa ukuvuvukala - Arthritis.

ukuziphatha

Ingabe izindlela zokuphila nemikhuba isifo Lesch - Nyhan? sina Syndrome ukushintsha ukuziphatha isiguli ngenxa CNS. Ingane iba ukubuyisa kakhulu, isimo sakhe kushintsha njalo. Ikakhulukazi iziqephu esiphawulekayo ubudlova ukuthi kungenzeka ngaphandle kwesizathu nganoma yisiphi isikhathi. Lezi zingane bathambekele ukuzilimaza, ukuthi okwamanje isetshenziswa ukulunywa nokuklwebheka. Kuthathwa uphawu sici egunjini lokuhlolwa kwezifo. Ngisho nokugcina ukuzwela okugcwele ubuhlungu akagcini iziguli. Zingase ukukhaliswa yizinhlungu, kodwa bayaqhubeka inflict ukuzilimaza.

ukuhlola

Imiphumela yaloku kuhlola okungenhla "syndrome Lesch - Nyhan" (izithombe zeziguli okusesihlokweni esithi) kusekelwe luhlolo emitholampilo izindlela zocwaningo ekhethekile eyengeziwe. Iphakamisa zokugula usizo ezintathu uphawu main. Nakani imisipha iziyaluyalu imvelo convulsive, ukuthambekela ukuzilimaza futhi polyuria. A indima ekhethekile udlalwa ngu ukuhlukumezeka ngokwayo ukuthi kufanele wazise abazali. Ngemva kokuchaza izimpawu wengane wathumela ukuba umchamo kanye nokuhlaziywa igazi. Biochemistry ngeke kutholakale izinga uric acid e ketshezi begazi. Kuyadingeka ekwenzeni ukuhlola izakhi zofuzo, eyaqinisekisa uphethwe. It Kunconywa ukuthi ultrasound izinso ukuthola zokugula kuzo. Ngemva kokuqinisekisa lesi sifo ingane Ufika bhalisiwe kudokotela oyisazi sezinzwa ngezindleko futhi udokotela wamathambo.

ukwelashwa

izindlela kwemithi futhi okungezona kwemithi ukusiza ukulungisa lesi sifo Lesch - Nyhan. Ukwelashwa kuhloswe zokuvimbela izinkinga kanye ngcono. Ukuze kuncishiswe ingozi kumiswa nokwehluleka ukusebenza kwezinso nginciphe uric acid ezingeni, okuyinto ukufinyelela "Allopurinol". Kunconywa ukusebenzisa "Diazepam" ukunqanda nesineke futhi uqede imizamo umonakalo uqobo. Ungamukela futhi nezinye sedatives. Ngaphezu isidingo sokulondoloza ukulawula ukuziphatha. Lapho ukuhlasela nolaka bangakwazi ukunikeza "Risperidone". Ngaphezu kwalokho, kufanele ukuqeda nezimo ezicindezelayo. Lokhu kuzosiza isiguli ukuzivumelanisa imvelo yayo futhi singene eduze nabanye abantu. Ukusekela imindeni kuyinto isici esibalulekile ukuthi kuyokusiza ukuba ulungise ukuziphatha. diapering Kunconywa noma amagilavu ezithambile ukuvikela kusuka ukuzilimaza. Sasihlale yakhetha ukususwa amazinyo, ukuze kuvinjelwe ukulunywa. Okwamanje, ukuthuthukiswa imithi, njenge amazinyo, evumela ukusetshenziswa amapuleti ekhethekile, okuyinto ezibekwe phezu amazinyo, ngaphandle kokuphatha kabi isiguli.

yezinkinga

Thanda pathologies kakhulu, kukhona yezinkinga isifo Lesch - Nyhan. Lesi sifo kungase kube nemiphumela ehambisana ne-ekuqongeleleni uric acid kanye hypoxanthine. Lezi iziyaluyalu kunciphise ukuphila futhi kuvimbele evamile ukuzivumelanisa umphakathi. Phakathi iziyaluyalu uzwakalise - samathambo kanye nephrolithiasis.

ukuvuvukala Joint lihlotshaniswa sokuxazulula ka uric acid. zinhlayiya Cluster it has imiphumela elimazayo ku uqwanga izicubu kanye nendawo yazo. Ngokuvamile kuthinta emalungeni izinyawo nezandla. Emkhakheni wezingalo ukuvuvukala avele soreness futhi ububomvu. Ubuhlungu syndrome kwandisa nge ukunyakaza.

Nephrolithiasis (ezinso noma) kungaholela yezinkinga ezifana pyelonephritis. Ukuvuvukala kuhilela ukhalo kwezinso. Ukutheleleka kungenziwa ukusakaza noma urinogennym hematogenous futhi ngabasebenzi abatelekile kwezicubu interstitium. Lapho uya e esigabeni ezingamahlalakhona ukuvuvukala kwabangela engelapheki izinqubo sclerosis. ukuthuthukiswa isifo kuholela ekwakhekeni severe esingamahlalakhona kwezinso. esiyingozi nakakhulu indawo izakhi isakhi ezicutshini izinso, it is itjhuguluko engekhe yalungiseka ukuthi kuphulwe umthetho umsebenzi walo - ukwabiwa ezingadingekile umzimba izinto.

Lawa izici zokugula Lesch - Nyhan. Syndrome abunakuphulukiswa ngokuphelele. Engamakhambi okuhloswe ngazo ukunciphisa izimpawu zokwelashwa kanye nesimo njengoba sinjalo. indima ebalulekile lokhu kwafeza imvelo okunomsoco nezimo zokuphila nesineke.

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