Wiskott-Aldrich syndrome: inkcazo sifo

Wiskott-Aldrich syndrome sisifo ilifa esichaphazela amakhwenkwe kuphela. Oku kubonakala yabantwana abasaqalayo ngokuqhelekileyo kukhokelela ekufeni kwisithuba seminyaka emihlanu ukuya kwelishumi.

Ngokuba lixesha lokuqala sifo kuchazwa-1937 ngu wabantwana German Wiscott. Wayebukele ukusuka abantwana abathathu, abo babandezeleka sorhudo anegazi ngokuphindelela, nangokhwekhwe kunye nokudumba lomgadi indlebe, nangona oodade ezine zaziphila ngokupheleleyo. Sele 1954, wezifo American amagama Aldrich wafumanisa ukuba esi sifo njengelifa uphawu sofuzo ezinxulumene X-.

Esi sifo luyasuka ukuba amakhwenkwe kunye nenkampani mutating zofuzo ngabafazi. Izinto geographical alunasiphumo kwi ukwanda le ngxaki.

Iimpawu zesi sifo

Wiskott-Aldrich syndrome lu dityanisiwe nokuphungulwa zegazi count. Kwiminyaka yokuqala yobomi lomguli ebonisa ezi mpawu zilandelayo: amahlwempu igazi ekunqandeni, nangokhwekhwe olungapheliyo, urhudo wamagazi. Emva koko, kukho immunodeficiency yokuqala. Ngenxa yokungabikho T kunye B lymphocyte umntu lixhomekeke zonke iintlobo wentsholongwane egazini kunye nezifo amagciwane. Immunodeficiency kubantwana bandiqumbisayo esisigxina usulelo zendlebe, inyumoniya, sinusitis, unegalimoya kunye nezinye izifo ezininzi. Sigula esi sifo nengozi enkulu kakhulu yokuba nesifo somhlaza. Kufuneka kuqatshelwe ukuba yobubi rhoqo kwabenza abadala.

Thina ubunzima ukusuka syndrome Viskota-Aldrich syndrome sivame kuphela ukopha syndrome, nto leyo ekhokelela uxilongo engalunganga. Kwiimeko ezinjalo, kuphela emva kocazululo DNA, apho kunokwenzeka ukuchonga gene onoxanduva syndrome ukumisela unyango olufanelekileyo.

ekuxilongweni

• A epheleleyo wegazi ukuchonga ekuhleni inani ziiplatelets.
• Uphononongo lwe smear igazi ukuswela noshowo ziiplatelets.
• Uhlalutyo yemfuza (ukwenziwa lokufumana imizila kwi sofuzo ukuba isakhiwo kwiproteni egazini).
• Ukumisela izinga immunoglobulin.
• Ndiqhuba diagnosis siswini, ukuba ukuchonga Wiskott-Aldrich syndrome ekukhulelweni ekuqaleni.
• Ukubekwa iiprothini amanqanaba egazini Wiskott-Aldrich syndrome.

unyango

Ngelishwa, inzululwazi yanamhlanje iye akukabikho wafumana unyango kwesi sifo isiba. Yinto eyaziwayo ukuba zegazi bayazonakalisa ngazo ezo udakada, ngoko izigulane ziye kufunyaniswe "Wiskott-Aldrich Syndrome", isuswe libhunga. Kunye nezigulane waqala ukuba uzive ngcono kakhulu. ezimpontshelwa rhoqo immunoglobulin kunye nokuqeshwa antibiotics ezifanelekileyo kwakhona kuphucula imeko jikelele yesigulana. Okwangoku, le ndlela yokwazisa izigulane ukuba umongo lithambo iiseli stem esempilweni. Kodwa ngoxa le ndlela ikhutshwa phandle kuphela lokulinga. Kwakhona izibini abaye sifo entsatsheni, kucetyiswa ukuba bapase kuzo zonke iimvavanyo eziyimfuneko phambi kokuba uceba ukukhulelwa.