Reaction Gaucher: unobangela kwaye unyango

Reaction Gaucher - isifo isimilo yemfuza, nto leyo esekelwe yokunqongophala enzayimi inxaxheba kwiinkqubo pathways kwinqanaba zeselula. Ngophuhliso sifo kukho ukuyilwa zophendlo lwezifo zoqhaphelo iseli ancedisana amalungu.

Imbali emfutshane

Reaction Gaucher - ntoni na? Esi sifo okokuqala ezichongiweyo umva ngo-1882, xa ugqirha French uPhilippe Gaucher uCharles wachaza iimpawu zakhe isigulane kunye udakada eyandisiweyo.

Ngowe-1924, oogqirha bakwazi nokulungelelanisa izinto okunamafutha kunye imixholo iiseli ezingaqhelekanga, ngaloo ndlela kusenziwa ingcinga yomenzeli causative enkulu esi sifo.

Ngowe-1965, iingcali ze-American National Institutes of Health lubonise ukuba ukuyilwa iiseli mpilweni kungenxa kukho ukunqongophala njengelifa kumzimba glucocerebrosidase enzyme. iziphumo diagnosis ngempumelelo walungiselela isiseko sokuphuhlisa kwanonyango kuphela enzymes indlela endaweni. Indlela entsha kunyango akwenzeki ukuba ecaleni ngokupheleleyo sifo, kodwa banikwe ithuba ukunciphisa kakhulu inkangeleko yayo.

Reaction Gaucher kwabantu. Yintoni na?

Izifundo yokuhlalisana zibonisa ukuba abantu abantu 100 000 akhawunti ngaphantsi kwe-1% yabantu kunye ufuzo zophendlo lwezifo ebangela esi sifo. Zininzi uthe qho phakathi wamaJuda - abasuka kummandla Mpuma Yurophu. Ngoko ke, kulindeleke ukuba Gaucher impendulo izenzo isifo njengelifa ubuzwe emelwe. Enyanisweni, njengokubonisa zophendlo lwezifo kokusasazeka unalo amaza efanayo njengoko kubazali bakhe efanayo kunye nezinye izifo abachaphazelekayo apho lysosomes cell.

iintlobo

Iingcali achonge iintlobo ezininzi sifo:

1. Ngaphandle peripheral - uhlobo kakhulu zesi sifo, abantu abaninzi nazimpawu. Ukuba buthathaka ngamandla umzimba kuboniswa nokukhawulezisa ukukhula kwithishyu engaqhelekanga. Kwangaxeshanye, iiseli mpilweni zingakuchaphazeli luvo nobuchopho.
2. Kunye obubonakala zosulele neuropathic - uhlobo ezinqabe kakhulu kwesi sifo. Luphawulwa kukuvela ezimbi luvo kule minyaka yokuqala yobomi. Iinkcukacha-manani zibonisa ukuba ngaphandle kokuxilongwa olwaneleyo ngexesha kunye nophuhliso olufanelekileyo zonyango ukufa kwenzeka ngaphambi kweminyaka emibini.
3. Nge neuropathy ezingapheliyo - isifo yabonisa inkqubela ecothayo ukwenza izinto pathologic, bubukho iimpawu neurologic ngesimilo zokumodareyitha. Kumanqanaba kamva lokukhula kweeseli mpilweni kukhokelela ekwandeni enyama yangaphakathi, lo ukoyiswa isixokelelwano sokuphefumla ukuphuhlisa sengqondo esixhalabisayo. Indlela kakhulu sisifo esingapheliyo izenzo Gaucher impendulo? Kwabantu lubonisa ukuba uninzi lwezigulane kusinda abantu abadala.

ekuxilongweni

Ukuchongwa imfuneko zophendlo lwezifo ukuqhuba uphando kokuphilayo ezintsonkothileyo. Ngokukodwa, uxilongo echanekileyo kufuna utyelelo ukuya luvo, wezingane, oyingcali yemfuza. Okwangoku kusetyenziswa iindlela ezisebenzayo ngakumbi, iziphumo ezinako ukubonisa uphuhliso sifo:

1. Igazi - indlela diagnostic kakhulu echanekileyo enika kungenzeka ukufumana isixa glucocerebrosidase transcriptase equka leukocyte esasinokubonwa fibroblast.
2. Uhlalutyo DNA - ityhila kwezakhi cell yemfuza. Uxilongo kunokwenzeka ngale ndlela ukuya kwi-90% kwi nqanaba ekukhuleni kosana olungekazalwa esibelekweni.
3. Bone iimviwo nomongo - ijolise ekuchongeni uphawu ngesifo utshintsho zophendlo lwezifo kubume kwithishyu. Ukusetyenziswa indlela diagnostic kwenza kube lula ukuqinisekisa esi sifo, kodwa ayikwazi ukwazi ukuba indawo iseli - abathwali ngezakhi mutated.

Iimpawu kunye zimpawu zesifo

Njengokuba bekutshiwo ngaphambili, xa nisaqala Gaucher aphendula nazimpawu. Kulo mzekelo, ukunqongophala glucocerebrosidase enzyme akuchaphazeli izibilini kuchaphazela luvo.

Xa isifo esikwinqanaba eliphezulu yi yayiyazi, umlinganiswa progressive. Kweli nqanaba, isigulana uziva oluthile, maxa wambi unesifo iintlungu esiswini, ekubeni ukukhula iiseli zophendlo lwezifo kuchaphazela ikakhulu isibindi kunye udakada. La maqumrhu Ekwandeni ngobukhulu xa kungekho loxilongo olululo kunye nonyango kudla phantsi nihlinza kwithishyu.

Oku kubonisa Gaucher impendulo. Xa kwabantu, eli binzana ayikho, nangona Uilla USmita uphawu ukusuka movie "zoJoliso" lowu okwahlukileyo.

Okubonakalisa Iimpawu zesi sifo ebuntwaneni kukhokelela kuphuhliso bamathambo. amathambo mntwana elicothayo, kukho ukulibaziseka ekukhuleni kunye nokusekwa asemzimbeni.

Reaction Gaucher: psychology

Enye yeengxaki ezinkulu abajongene nazo abantu sisifo yemfuza - njengemiqathango umkhuhlane jikelele. Oku, ebangela yonke ezininzi iingxaki zengqondo. Abantu abaphethwe kwesi sifo ngendlela ebukhali, uziva udiniwe emva ukuphumla ebusuku ngokupheleleyo kaThixo.

Xa abantwana, Gaucher impendulo ebangela kukungabi amandla kunye ingqalelo. Ngenxa yesi sizathu, kuye kube nzima ukunxibelelana kunye noontanga babo, kudlala nabahlobo, ukudlala imidlalo, ukuba banikel 'ingqalelo kumsebenzi yokufunda, ukuba bathathe inxaxheba kubomi boluntu.

Kukhokelela ukonakala kweendlela kwi imeko yengqondo isigulane ingatshintsha imbonakalo. Umntwana bamhleke ngenxa yokukhula lwaneleyo, nenzaliseko, izihlunu kophuhliso. Abantu phantsi ezibonisa sifo ngendlela ebukhali, ngokufuthi ubunzima ukusuka ezingenasigxina iingcombolo zangaphandle ezinqwenelekayo umfanekiso ngokwakho. Uncedo ukuphelisa iingxaki ngentla unako ingcebiso engqondweni.

engaba khona

Ukuba lunganyangwa, imiphumo sifo kuvame:

• ukopha lweenkcukacha kwi izitho zokugaya;
• ukonakala kwesibindi inyama kunye udakada;
• aqaqambayo laryngeal, de ukumisa okupheleleyo ukuphefumla;
• uphuhliso ukusilela yokuphefumla, inyumoniya rhoqo;
• iinkqubo entshabalalo ebudeni kwamathambo;
• ithambo ngumongo losuleleko.

unyango

Kwixesha elidlulileyo, unyango lubandakanya kuphela ukususwa iimpawu ezingundoqo zesi sifo. Ukususela 90-imi- kwinkulungwane yokugqibela njengeyona ndlela iphambili yonyango baqala ukusebenzisa fermentoterapii replacement, ezibandakanya kokukhutshelwa umzimba yeseli glucocerebrosidase ilungiswe. iikopi enzyme ezingezizo umsebenzi icandelo zendalo egazini lizele isakhiwo ukuswela yayo emzimbeni. Iinaliti kunye nomxholo ukwimo nga ukuphelisa iimpawu zesi sifo elibi, kwaye kwezinye iimeko ukuba ayeke ukuyilwa iiseli ezingaqhelekanga jikelele.

Ukuququzelela imeko jikelele abantu abagulayo analgesics emiselweyo. Ngenxa ukuqhubeka kwesifo tshamela ku ukususa yinxalenye kwesibindi okanye udakada. Kwezinye iimeko, ukusombulula ingxaki yokuvumela esinye umongo wethambo.

Ekuphetheni

Reaction Gaucher - ntoni na? Njengoko sibonile, ngezifo na utyeshelo ngokwaneleyo iimpawu licaciswe. On impumelelo unyango ukubona ngezifo xa usaqala, ekuqaleni okuqala onyango endaweni kubonakala ngqo. Impendulo kunyuswe kwingxaki kukhokelela kuphuhliso iingxaki kakhulu, kwaye ngenxa yokunqongophala konyango olufanelekileyo kaninzi iba yingozi.