Luluphi olu hlobo lungaqhelekanga lwe-anemia kunye neengxaki zezintso? (I-Atypical Hemolytic Uremic Syndrome - aHUS) Masithethe!

Ngaba unokucinga ukuba bekuya kwenzeka ntoni ukuba inkqubo yethu yokuzikhusela, inkqubo yokuzikhusela, endaweni yokusikhusela kwizifo, iqala ukuhlasela imizimba yethu? Leyo yimeko embi, kodwa engaqhelekanga, esiza kuthetha ngayo namhlanje yi-aHUS, okanye i-Atypical Hemolytic Uremic Syndrome . Oku kuxa imithambo yethu yegazi yonakele, kwakheka amahlwili egazi amancinci, kwaye ukuhamba kwegazi kwizitho ezibalulekileyo njengezintso kuncipha. Le meko idla ngokubangelwa kukuguquka kwezakhi zofuzo .

Oogqirha badla ngokukuxilonga ukuba une-aHUS xa unazo zontathu ezi meko:

• I-Microangiopathic hemolytic anemia : Oku kuthetha ukuba iiseli zakho ezibomvu zegazi zitshatyalaliswa ngokukhawuleza, ngoko ke umzimba wakho awukwazi ukwenza iiseli ezintsha ukuze uzithathele indawo.
• I-Thrombocytopenia : Oku kukuncipha kwenani leeplatelet, ezinceda ukujiya kwegazi.
• Ukulimala kwezintso okukhawulezileyo : Olu luhlobo lokungasebenzi kakuhle kwezintso, kodwa ngamanye amaxesha lunokuguqulwa.

Zonke ezi meko zintathu zinokwenzeka ngaxeshanye, okanye zingenziwa zibe mandundu zezinye izifo.

Yintoni umahluko phakathi kwe-HUS eqhelekileyo kunye nale aHUS?

Ngaphambili, le meko ebizwa ngokuba yi-HUS (Hemolytic Uremic Syndrome) yahlulwe yaba ziintlobo ezimbini eziphambili.

• I-HUS eqhelekileyo (i-HUS enxulumene norhudo): Oku kudla ngokuhamba norhudo. Kubangelwa luhlobo lwebhaktheriya ebizwa ngokuba yi-E. coli . Abanye abantu bayibiza ngokuba yi -STEC-HUS .
• I-aHUS esithetha ngayo namhlanje (i-Atypical HUS): Olu asilohlobo lorhudo olubonwayo. Uninzi lwexesha, malunga nesiqingatha sabantu abafumana i-aHUS, ibangelwa lutshintsho lwemfuza, utshintsho lwemfuza . Oogqirha ngamanye amaxesha babiza le meko ngokuthi yi-complement-mediated thrombotic microangiopathy (CM-TMA) .

Ziziphi izinto ezithile ezibangela i-aHUS?

Ngamafutshane, ayinguye wonke umntu one-genetic mutation oya kuba ne-HUS. Idla ngokubangelwa, okanye ibhebhethekiswe, zezinye iimeko zempilo. Cinga ngezi zinto:

• Ixesha lokukhulelwa
• Umhlaza
• Iintsholongwane ezahlukeneyo
• Amayeza athile, ingakumbi amayeza e-chemotherapy , amayeza okunciphisa amasosha omzimba , amayeza okunciphisa igazi , amayeza okuthintela ukukhulelwa athethwa ngomlomo , kunye namanye amayeza okulwa nokuvuvukala .

Zithini iimpawu ze-aHUS?

Ngoku makhe sijonge ukuba zeziphi iimpawu ezibonakaliswa ngumntu one-aHUS. Usenokuba nezinye zezi, okanye usenokuba neempawu ezikhula kancinci kancinci.

• Ndiziva ndidiniwe ngalo lonke ixesha (Ukudinwa)
• Ulusu oluphaphathekileyo (Umbala ongwevu)
• Isicaphucaphu okanye ukuhlanza
• Ukuncipha kokuphuma komchamo
• Igazi kumchamo
• Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu)
• Ubunzima bokuphefumla (i-Dyspnea)
• Ukudumba
• Ukudideka , ukulahlekelwa yinkumbulo
• Ifiva

Uninzi lwabantu alunazo zonke ezi mpawu ngaxeshanye. Ngamanye amaxesha ziqala kancinci kancinci. Usenokuziva ngathi ubusoloko uphethwe yinto ethile okwethutyana, kodwa awukwazi ukuyiqonda. Ezi mpawu ze-neurological , yiloo nto ndiyikhankanyileyo ngaphambili, azenzeki kubo bonke abantu, ayiqhelekanga kangako.

Yintoni ebangela i-aHUS ngokwenene?

Eyona nto ibangela i-aHUS kukutshintsha kwe-DNA yethu (ukuguqulwa kwezakhi zofuzo) , okanye ukwakheka kwee-autoantibodies ezihlasela iiseli zethu ngokuchasene 'neeproteni ezincedisayo' kwinkqubo yethu yomzimba yokuzikhusela . Olu tshintsho lwezakhi zofuzo lunokufunyanwa kubazali bethu, okanye lunokwenzeka ngokungacwangciswanga. Olu tshintsho lwezakhi zofuzo luchaphazela umsebenzi weeproteni ezibizwa ngokuba 'zizinto ezincedisayo' .

Cinga ngezi 'zinto ezincedisayo' njengamajoni amancinci anceda iiseli zethu zomzimba. Njengokutya okunongiweyo, ezi proteni zifumana iintsholongwane eziyingozi (ezifana neebhaktheriya kunye neentsholongwane) kwaye ziziphawule ukuze ezinye iiseli zomzimba 'zikwazi' ukuzitya. Ezona zichaphazeleka kakhulu kwi-aHUS zii -complement factors H, I, 3, kunye ne-B.

Umzekelo, umsebenzi we-complement factor H kukukhusela iiseli ezisempilweni emizimbeni yethu nokuthintela ezinye izinto ezincedisayo ukuba zingasebenzi xa zingadingeki. Ngoku khawucinge ukuba kwenzeka ntoni ukuba le complement factor H ayisebenzi kakuhle (oko kukuthi, ukuba kukho utshintsho kwi-CFH gene) ? Iiseli zethu azifumani ukhuseleko eziludingayo. Nazi ke izinto ezenzekayo:

• Iiseli zethu zomzimba ezikhusela umzimba zihlasela kwaye zonakalise iiseli ezingaphakathi kwemithambo yegazi yethu (iiseli ze-endothelial) .
• Iiplatelets ziqokelelana zijikeleze lo monakalo zize zenze ihlwili legazi. Oku kuvala imithambo yegazi.
• Oku kunciphisa ukuhamba kwegazi ukuya kwizitho zethu zomzimba, nto leyo ebangela ukuba zonakale kwaye umsebenzi wazo uyehla. Izintso zezona zichaphazeleka kakhulu.
• La mahlwili egazi ayonakalisa nezinye iiseli zegazi ezidlula kuwo, nto leyo ebangela imeko ebizwa ngokuba yi-hemolytic anemia .

Uyazi njani ukuba une-aHUS?

Ugqirha uya kufumanisa i-aHUS ngokweempawu zakho kunye neziphumo zovavanyo olujonga inani legazi lakho kunye nendlela amalungu akho asebenza ngayo. Baya kwenza novavanyo ukuqinisekisa ukuba awunazo ezinye izifo ezibangela iimpawu ezifanayo (ezifana ne-STEC-HUS ekhankanyiweyo apha ngasentla).

Zeziphi iimvavanyo ezisetyenziselwa ukuxilonga i-aHUS?

Kusenokufuneka wenze uvavanyo olufana nolu:

• Uvavanyo lwegazi: Ubalo lwegazi olupheleleyo (i-CBC) , uvavanyo lokusebenza kwezintso, njl.
• Uvavanyo lwemfuza : Olu vavanyo lujonga utshintsho lwemfuza.
• Uvavanyo lwesitulo : Jonga ukuba kukho usulelo olufana ne-E. coli.
• Uvavanyo lwezintso : Ukuthatha iqhekeza elincinci lezintso ukuze lihlolwe.
• Uvavanyo lwemifanekiso : olufana ne -ultrasound okanye i-CT scan .

Iphathwa njani i-aHUS?

Unyango lwe-aHUS luxhomekeke kwisizathu esiyintloko kunye nobunzima bemeko. Ukuba une-aHUS engathambi kangako, ugqirha wakho unokukujonga aze akunike uncedo oluxhasayo , olufana notofelo-gazi okanye amayeza oxinzelelo lwegazi oluphezulu, ukuba kuyimfuneko.

Nangona kunjalo, ukuba une-aHUS enzima, unokufuna unyango olufana nolu:

• Utshintsho lweplasma olunyango : Kule nto, inxalenye yeplasma yegazi iyasuswa kwaye kunikwa iplasma entsha.
• I-Rituximab okanye amanye amayeza asetyenziselwa ukunyanga izifo ezihlasela amajoni omzimba.
• I-Dialysis : Indlela yokucoca igazi xa izintso zingasebenzi kakuhle.
• Ukufakelwa kwezintso : Oku kwenziwa kuphela kwiimeko ezinzima kakhulu.

Kwabo bane -'complement' gene mutations ' ekhankanyiweyo apha ngasentla, oogqirha badla ngokusebenzisa iyeza elibizwa ngokuba yi -eculizumab ukunyanga i-aHUS. I-Eculizumab isebenza ngokuthintela iiproteni ezithile ezincedisayo, ithintela amasosha omzimba wakho ekubeni onakalise imithambo yegazi yakho.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Xa usebenzisa i-Eculizumab , usenokungakhuseleki kangako kwiigonyo ze -meningococcal kunye ne-pneumococcal . Ke ngoko, ukuba kunokwenzeka, ugqirha wakho unokukucebisa ukuba ufumane ezi gonyo ngaphambi kokuba uqale i-Eculizumab .

Ikamva liphethe ntoni kumntu one-aHUS?

Ukuba le meko ifunyaniswa kwaye inyangwa kwangethuba, iimeko ezifana nokwenzakala kwezintso okubangelwa yi-aHUS zinokulawulwa ngempumelelo. Usenokuba namaxesha okuxolelwa ngaphandle kweempawu. Nangona kunjalo, ukuba kukho enye into evuselela i-aHUS kwakhona, ingaba yingozi kwakhona ebomini.

Ngaphambili, malunga nesiqingatha, okanye ama-50%, abantu abane-aHUS babenesifo sezintso esingapheliyo (ESKD) , nto leyo ethetha ukuba izintso zabo azisebenzi kakuhle.

Kodwa kukho iindaba ezimnandi! Izifundo ezintsha zibonisa ngokucacileyo ukuba umngcipheko we-ESKD unciphile kakhulu kubantu abane-aHUS ngenxa yonyango lwe -Eculizumab .

Iyintoni ingozi yokufa ngenxa ye-aHUS?

Amatyala anzima e-aHUS, anje ngokungasebenzi kakuhle kwezintso okanye umonakalo kwamanye amalungu omzimba, anzima kakhulu. Kwiimeko ezinjalo ezinzima, kukho umngcipheko wokufa omalunga ne-15%.

Ngaba i-aHUS ingathintelwa?

Ngenxa yokuba idla ngokubangelwa lutshintsho lwemfuza, i-aHUS ayinakuthintelwa. Nangona kunjalo, ukuba usemngciphekweni wokufumana isifo esibi, unokukwazi ukuphepha ezinye zezinto ezisibangelayo .

Ndingazinyamekela njani?

Ukuba ufunyaniswe une-aHUS, thetha nogqirha wakho ngeendlela zokuphepha izinto ezinokwenza imeko ibe mandundu. Kubalulekile nokwazi iimpawu zemeko enzima.

Ndifanele ndimbone nini ugqirha?

Ukuba ubusoloko uziva udiniwe okanye udiniwe ixesha elide – ngokungathi unesifo esingapheliyo esingayi kuphela – thetha nogqirha wakho. Kwakhona, thetha ngezinye iimpawu oye waba nazo kutshanje, njengokutshintsha kwendlela yakho yokuzilungisa.

Ndingaya nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Ukuba unezi mpawu ziqatha, yiya kwigumbi likaxakeka ngokukhawuleza:

• Ukuphuma komchamo kunciphile kakhulu.
• Ukudideka okanye ukutshintsha ingqondo.
• Ukudumba okukhulu.
• Ubunzima obukhulu bokuphefumla.

Ndingayibuza yiphi imibuzo ugqirha?

Kunganceda ukubuza ugqirha wakho imibuzo efana nale:

• Ingxaki yam inzulu kangakanani?
• Yintoni eyabangela ukuba oku kunyuke?
• Ndingakwazi na ukuthintela iimeko ezinje kwixesha elizayo?
• Zeziphi iimpawu ekufuneka ndizijonge?
• Ndingabuya nini ndize kukubona kwakhona?

Ixhaphake kangakanani le meko ibizwa ngokuba yi-aHUS?

i-aHUS inqabile kakhulu.Ingxaki yempilo. Ichaphazela umntu omnye kumakhulu amahlanu amawaka. Ixhaphake kancinci kubantu abadala kunabantwana.

Okokugqibela, izinto ekufuneka uzikhumbule

Ukufumanisa ukuba wena okanye umntwana wakho unesimo semfuza kunokuba ngamava atshintsha ubomi. I-aHUS yimeko enzima enokubangela amahlwili egazi kwaye yonakalise amalungu omzimba. Nangona kunjalo, uphuhliso lwakutshanje lweyeza elibizwa ngokuba yi -eculizumab luphucule kakhulu izinga lokusinda kwabantu abane-aHUS. Ukuba ufunyaniswe une-aHUS, thetha nogqirha wakho ngeendlela zokuphepha izinto ezibangela oku kunye nokunciphisa umngcipheko wokugula kakhulu. Unokukunceda uqonde into ekufuneka uyenze ukuze uhlale usempilweni.

i- aHUS, isifo sezintso, amahlwili egazi, inkqubo yomzimba yokuzikhusela, utshintsho lwemfuza, i-anemia, i-Eculizumab