Umzingeli syndrome - zofuzo isifo esinqabileyo

Xa amayeza, kukho inani kwezifo ezinqabileyo, ziquka kunye Hunter syndrome (Mucopolysaccharidosis type 2), nto leyo, umzekelo, abantu abangama-50 kuphela uyagula eRashiya. Esi sifo yemfuza ithe yadluliselwa ukusuka kumama isiya amakhwenkwe. ubomi bakhe bonke unina ukuze wazi ukuba lo yenethiwekhi zofuzo yonakele. Amathuba kokuzalwa kosana kunye ngezifo yezi ntombi - 50%. Kodwa kwenzeka ngamaxesha athile (manqapha) yemfuza zofuzo ndingekazalwa, kodwa abazali abanalo ukungaqheleki.

Mzingeli syndrome, indlela yophuhliso

Xa abantu kukho iwaka iinkqubo ezahlukeneyo pathways ukuba nesiphumo "inkunkuma" na imveliso ngaphandle. Xa Mzingeli syndrome yephule mucopolysaccharides zotshintshiselwano (glycosaminoglycans) akaqhotyoshelwanga ukuboniswa, kodwa yande yonke kwizihlunu zomzimba. Oku kungenxa yokuba akukho iduronatsulfataza enzyme. Kucacile ukuba kwiimeko ezinjalo amalungu kunye neenkqubo ayeke ukuze sisebenze kakuhle, kukho Kukwaphula.

Mzingeli syndrome, picture clinical

Ngokomthetho iimpawu ziqala ukuvela kuphela emva emibini ukuya kwemithathu, abantwana bazalwa eqhelekileyo, kunye nabazali abazi izifo zabo. iimpawu zobuso baba ilizwi erhabaxa, kakhulu, ukuphefumla kuba nengxolo, kwaye umntwana iqala wokosulelwa zizifo ukugula viral kakhulu zemiphunga. Inkangeleko inkwenkwe kukuba ibala elinzima phezu kobuso, intamo emfutshane, amazinyo ezinqabileyo, imilebe zamafu, ulwimi kunye nempumlo. Bonke abantwana Hunter syndrome ifana kakhulu omnye komnye, ukuba athathwe ukuba abazalwana.

Emva kid kweminyaka emithathu okanye emine ubudala kuba nzima ukuhamba, ukuqina namalungu abe, yena ulahlekelwa ulungelelaniso, lingehla. yonke le nkqubo skeletal iyatshintsha.

Qala ukuphazamiseka ye psyche, umntwana abe ecaphukile okanye ndlongondlongo. Abanye abantwana zokuthengisela. Izakhono ukuba umntwana ezifunyenwe iminyaka yabo, balahlekile. Yena uba singenamandla, asisathethi.

Phantse zonke izigulane kuchaphazela intliziyo, imveliso metabolic oluhlala kuzo kwemithambo, ebangela ukuba izokhula. Xa elivisayo, iinguqu imperceptible, ekuqaleni zokuphula accounted for abadala.

Kukho iintlobo ezimbini: iimpawu isifo A Hunter kunye B. In kwifom yokuqala, inkqubela ngokukhawuleza, kuza ukukhubazeka engqondweni, kwaye Ifom yesibini kulula xa umntwana isindise ubukrelekrele. Ngokuxhomekeka kuhlobo isifo ubude bobomi abantu bakwazi ukufikelela iminyaka 50-60. Noko ke, neefom kakhulu abantwana Zinokuphila zide zibe neminyaka 8-9.

lokufunyaniswa kwesifo

Abathandwayo lobeko ekufunyanweni kwezifo zamafa - izifundo genetic yosana olungekazalwa. Kodwa Ukuhlolwa loo nto, ngoko ke, ngaphandle ukuphazamiseka pre-kunqabile akunakwenzeka.

Xa umchamo izigulane kutyhilwa isixa esikhulu sulfate heparan kunye dermatan.

X-ray umfanekiso inkqubo skeletal - dysostosis ezininzi (mgaqweni zophuhliso skeletal).

unyango syndrome Hunter

Kweziyobisi ngenxa yonyango mucopolysaccharidosis uhlobo 2 ziye ukufaka kwaye enzyme elishiyiweyo. "Elapraza" libhekisela ndlela. Noko ke, kusenokwenzeka ukuba ufumane zonke izigulane, iindleko echiza imali eninzi kakhulu yaye zifumaneka kuphela aphesheya.

Unyango lwabantwana abane Hunter syndrome kufuneka zihlawulwe ngurhulumente, kodwa abasemagunyeni Wakhanyela ke, ekubeni ukusetyenziswa ngonyaka umntu ngamnye ifaniswa ibhajethi yolondolozo yonke ekliniki. Kodwa ke unyango lwe aba bantwana ubomi, unokufaniswa kunye nothomalaliso seswekile xa umntu rhoqo kufuneka insulin. Wonke umntu uyazi ukuba ngaphandle insulin diabetic akayi kuphila ixesha elide, le meko efanayo kunye nale ngezifo. Abazali abasafuna ngandlel 'ukulawula ukufumana ichiza (nabaxhasi, uthando), bathi ukuba umntwana iba ngcono, ukuqala ukuhamba kwakhona kwaye uphile ngakumbi ubomi obuqhelekileyo.