Ingaba umntwana wakho omncinci unazo ezi mpawu? Masifunde ngeSanfilippo Syndrome

Ngaba ubona naluphi na utshintsho kwindlela umntwana wakho aziphethe ngayo, athetha ngayo, okanye abonakala ngayo okufumanisa kunzima ukuyiqonda? Ngamanye amaxesha asazi kangako ngezifo ezithile ezichaphazela abantwana abancinci, ngoko ke siqala ukucinga ngento enye emva kwenye. Namhlanje, siza kuthetha ngemeko enzima kancinci, kodwa ekufuneka wonke umntu ayiqaphele. Oku kubizwa ngokuba yiSanfilippo syndrome . Ungakhathazeki, siza kuthetha ngayo ngokweenkcukacha nangokulula.

Yintoni iSanfilippo Syndrome?

Ngamafutshane, iSanfilippo syndrome yimeko yemfuza efunyanwa njengelifa . Enyanisweni liqela lezifo. Ichaphazela kakhulu inkqubo yemithambo-luvo yomntwana wakho, eyingqondo kunye nomgogodla. Oku kunokubangela iimpawu ezahlukeneyo kwiindawo zomntwana zengqondo, zokuziphatha, kunye nezomzimba. Ngelishwa, ezi mpawu zihlala zisiba mandundu ngokuhamba kwexesha, kwaye le meko inokunciphisa ixesha lokuphila kwabantwana.

Elinye igama lale nto yi -mucopolysaccharidosis type III (MPS III) .

Cinga ngako oku, ngaphakathi kweeseli zethu kukho "amaziko okulahla inkunkuma" amancinci. La abizwa ngokuba yi-lysosomes . La ngawo aqhekeza aze asuse izinto ezingafunekiyo, okanye "inkunkuma," eziqokelelana ngaphakathi kweeseli. Umntwana one-Sanfilippo syndrome akanayo enye yee-enzymes ezine ezifunekayo ukuqhekeza i-carbohydrate eyinkimbinkimbi ebizwa ngokuba yi-heparan sulfate ( ekwabizwa ngokuba yi -glycosaminoglycan ). Ngenxa yokuba le enzyme ayisebenzi kakuhle, into ebizwa ngokuba yi-heparan sulfate iqokelelana ngaphakathi kweeseli zomntwana, izicubu, kunye namalungu omzimba. Oku kuqokelelana kubangela umonakalo kuzo. Oku sikubiza ngokuba yi-lysosomal storage disorder .

Ngaba kukho iintlobo zeSanfilippo Syndrome?

Ewe, kukho iintlobo ezine eziphambili zale nto. Uhlobo ngalunye lubangelwa kukungabikho kwe-enzyme eyahlukileyo.

• Uhlobo A: Ukunqongophala kwe-enzyme sulfamidase.
• Uhlobo B: Ukunqongophala kwe-enzyme i-alpha-N-acetylglucosaminidase.
• Uhlobo C: Ukunqongophala kwe-enzyme ye-heparan acetyl CoA: i-alpha-glucosaminide N-acetyltransferase.
• Uhlobo D: Ukunqongophala kwe-enzyme i-N-acetylglucosamine 6-sulfatase.

Kwezi, uhlobo A lolona hlobo luxhaphakileyo kwihlabathi liphela , ngelixa uhlobo D lolona luxhaphakileyo.

Ixhaphake kangakanani le meko?

I-Sanfilippo syndrome yimeko engaqhelekanga kakhulu.Ngokutsho kwabaphandi, oku kuchaphazela umntu omnye kubantu abangama-50,000 ukuya kuma-250,000. Ngoko ke ungabona ukuba oku kunqabile kangakanani.

Zithini iimpawu zeSanfilippo Syndrome?

Iimpawu kunye nobunzima bale meko bunokwahluka ukusuka kumntwana ukuya kumntwana, kwaye kuxhomekeke kuhlobo lwesifo. Ezinye zeempawu zokuqala ezinokubonakala kwiintsana ezisandula ukuzalwa kunye nabantwana abancinci ziquka:

• Iimpawu zobuso ezirhabaxa .
• Iinkophe ezicacileyo nezibanzi.
• Ukuba neenwele zomzimba ezingaphezulu kwesiqhelo (i-hirsutism) akunciphi ngokuhamba kwexesha.
• Intloko inkulu kunesiqhelo (i-macrocephaly).
• Iingxaki zokulala, ubunzima bokulala.
• Iingxaki zokuphefumla, umzekelo, ukuxinana kwendlebe kunye/okanye impumlo, ubunzima bokuphefumla.
• Intlungu ebuhlungu yesisu kunye nokukhala (iziqendu ezifana ne-colic).
• Urhudo oluqhelekileyo.

Usenokungaziboni ezi mpawu zakuqala kwangoko. Njengoko umntwana wakho ekhula, ezinye iimpawu ezinxulumene neSanfilippo syndrome ziya kuqala ukubonakala. Ezi mpawu zihlala zibonakala phakathi kweminyaka eli-1 neli-4 ubudala .

Iimpawu ezinxulumene nenkqubo yeemvakalelo kunye nokuziphatha:

• Ukulibaziseka kwizakhono zokuthetha nezolwimi (idla ngokuba luphawu lokuqala).
• Uphuhliso lomntwana luyalibaziseka ngaphandle kwesizathu esithile (ukulibaziseka kophuhliso okungekho ngqo).
• Izakhono zengqondo ziyawohloka ngokuhamba kwexesha.
• Ukuziphatha okunobundlobongela okanye okonakalisayo .
• Ukusebenza ngokugqithisileyo.
• Ukuziphatha okungenankathalo, ukugqabhuka ngequbuliso komsindo (ukucaphuka okukhulu).
• Ukungoyiki izinto eziyingozi.
• Ukuluma rhoqo, ukukrazula, ukumunca, okanye ukuginya (ukuthetha kakhulu).
• Ukungazoli.
• Iingxaki zokulala - ukoyika ukulala, i-parasomnias, i-sleep apnea.
• Utshintsho kwindlela yokuhamba, umzekelo, ukuhamba ngeenyawo .
• Ukuqina komzimba, ukuxinana.
• Ukuxhuzula.

Iimpawu zendlebe, impumlo nomqala:

• Ukulahlekelwa kukuva.
• Usulelo lwendlebe oluqhelekileyo (i-otitis).
• Ukuxinana kwempumlo okungapheliyo.
• Ukufuna ukususwa kwe-adenoids kunye neetoni (i-adenotonsillectomy) kwangethuba kunabantwana abaqhelekileyo.

Ezinye iimpawu:

• Urhudo okanye ukuqhinwa ixesha elide.
• Ukuqhinwa.
• Ukungakhululeki esiswini.
• Ukungahambi kakuhle kwesingqisho sentliziyo (arrhythmia).
• Isifo sentliziyo (cardiomyopathy).
• Ukuqina kwamalungu.
• I-Scoliosis.

Yintoni ebangela iSanfilippo Syndrome?

Njengoko besitshilo ngaphambili, iSanfilippo syndrome sisifo seLysosomal Storage Disease (LSD).Sisifo semfuza esikweli qela libizwa ngokuba yi-. Abantu abanesi sifo baqokelela izinto ezinobuthi kwiiseli zabo zomzimba. Isizathu soku kukuba ezinye ii-enzymes emizimbeni yabo azisebenzi kakuhle okanye azikho . Xa ezi enzymes zingekho, imizimba yethu ayinakuqhekeka kwaye isuse izinto ezithile. Kuxa ziqokelelana emzimbeni apho ziba yingozi khona.

Kwi-Sanfilippo syndrome, enye yee-enzymes ezine ezinceda ekuqhekezeni into ebizwa ngokuba yi -heparan sulfate ayikho. I-Heparan sulfate emva koko iqokelelana kwiiseli ize yonakalise. Olu qokelelo luchaphazela kakhulu iiseli zobuchopho bomntwana .

Ezi ngxaki zee-enzyme zibangelwa kukuguquka kwezakhi zofuzo , ingakumbi utshintsho kwiizakhi zofuzo ezifana ne-SGSH gene .

Olu tshintsho lwemfuza lufunyanwa ngumntwana kubazali bobabini. Oku kubizwa ngokuba yi-autosomal recessive pattern of inheritance. Oku kuthetha ukuba bobabini abazali kufuneka babe ngabathwali be-gene etshintshileyo. Nangona kunjalo, umthwali we-gene akadli ngokubonisa zimpawu.

Ungayixilonga njani ngokuchanekileyo le sifo?

Ngenxa yokuba iSanfilippo syndrome inqabile kwaye iimpawu zayo zifana nezezinye izifo eziqhelekileyo , ukuxilongwa kwayo kunokulibaziseka. Oogqirha banokufumanisa le meko ngendlela engafanelekanga njengokulibaziseka kokukhula, i-Attention-Deficit/Hyperactivity Disorder (ADHD) , okanye i-autism .

Ugqirha womntwana wakho uza kwenza uvavanyo lomzimba kunye novavanyo lwemithambo-luvo. Baza kubuza nangeempawu zomntwana wakho kunye nembali yakhe yezonyango. Basenokuyalela novavanyo ukuze baqinisekise ukuba akukho ezinye iimeko.

Uvavanyo olunceda ekuqinisekiseni ukufunyaniswa kweSanfilippo syndrome zezi:

• Uvavanyo lomchamo lwe-GAG: Isampuli yomchamo yomntwana ijongwa ukuba ikhona na into ebizwa ngokuba yi -glycosaminoglycans (GAG) .
• Uhlalutyo lwee-enzyme: Umsebenzi wee-enzymes ezifanelekileyo ulinganiswa kwisampulu yegazi.
• Uvavanyo lwemfuza: Olu vavanyo lunokujonga utshintsho lwemfuza (iinguqu) ezaziwa ngokuba zidibene neSanfilippo syndrome.

Ukongeza, ugqirha angacebisa ezinye iimvavanyo ukuze abone ukuba akukho monakalo na kumalungu okanye kwizicubu zomntwana. Umzekelo:

• Iskeni yeMRI yobuchopho.
• Uvavanyo lwamehlo.
• Uvavanyo lokuva.
• Uvavanyo lwentliziyo - olufana ne -echocardiogram kunye ne-electrocardiogram (EKG) .
• Isifundo sokulala.
• Uvavanyo lwe-X-ray.

Ukuxilongwa kwangaphambi kokubeleka

Ukuba kukho umntu kusapho lwakho okhe waba neSanfilippo syndrome, ugqirha wakho unokucebisa ukuba uvavanye umntwana wakho ongekazalwa ukuze abone ukuba ukhulelwe na. Oku kungenziwa ngovavanyo olufana ne -amniocentesis okanye i-chorionic villus sampling .

Ziziphi iindlela zonyango lweSanfilippo Syndrome?

Ngelishwa, okwangoku akukho nyango okanye unyango oluguqula izifo lweSanfilippo syndrome . Unyango lugxile kakhulu ekulawuleni iimpawu kunye nonyango lokudambisa iintlungu . Ngenxa yokuba le meko ichaphazela iinkalo ezininzi zempilo yomntwana, iqela loogqirha abahlukeneyo liyafuneka ukunyanga umntwana. Eli qela lingabandakanya:

• Iingcali zezingane.
• Iingcali ze-neurological zabantwana.
• Iingcali zonyango lomzimba.
• Iingcali zonyango emsebenzini.
• Iingcali zezifo zolwimi lokuthetha.
• Iingcali ze-Otolaryngologists (iingcali zeendlebe, impumlo, kunye nomqala).
• Iingcali zengqondo zabantwana.
• Abasebenzi bezentlalo.
• Ootitshala abakhethekileyo.

Ezi ngcali zicebisa amayeza, unyango, kunye nezixhobo zokuncedisa ezenzelwe iimfuno zomntwana. Iinjongo eziphambili zonyango kukugcina umzimba womntwana usebenza kakuhle, ukwandisa amandla akhe, kunye nokugcina umgangatho wobomi uphezulu kangangoko.

Umntwana wakho unokufumana ithuba lokuthatha inxaxheba kuvavanyo lweklinikhi . Buza iqela lezonyango lomntwana wakho ngale nto. Abaphandi okwangoku bafunda unyango oluthile lweSanfilippo syndrome. Umzekelo:

• Unyango lokutshintsha ii-enzyme.
• Ukufakelwa kweeseli zesiqu.
• Unyango lwe-gene.

Kwinqanaba lokugqibela lesi sifo, eyona nto iphambili kunyango kukugcina umgangatho wobomi kunye nokuthintela iingxaki.

Yintoni endimele ndiyilindele ukuba umntwana wam uneSanfilippo Syndrome?

Ukuba umntwana wakho uneSanfilippo syndrome, kusenokwenzeka ukuba uza kudibaniswa rhoqo nogqirha kwaye uvavanywe. Kunokuba nzima ukuyiqonda le meko inzima ngaxeshanye. Kodwa khumbula, iqela lezonyango lomntwana wakho likunye nawe kuyo yonke inyathelo. Ngenxa yokuba iSanfilippo syndrome ichaphazela umntwana ngamnye ngendlela eyahlukileyo, iqela lezonyango lomntwana wakho linokukunika iingcebiso ezilungileyo malunga nokuba ikamva limphathele ntoni umntwana wakho kunye nosapho lwakho.

Kwinqanaba lokugqibela le-Sanfilippo syndrome, umntwana wakho unokufumana oku kulandelayo:

• Ukuncipha konxibelelwano nendawo ezikuyo.
• Isifo sengqondo esixhalabisayo .
• Ukulahlekelwa ziintshukumo zomzimba ezifana nokuhamba, ukuthetha, nokutya.

Ezi ngxaki zempilo ziyanda ngokuhamba kwexesha kwaye ekugqibeleni zinokubangela ukufa. Iintsholongwane zomthambo wokuphefumla, ingakumbi i-pneumonia , zezona zibangela ukufa.

Ingakanani iminyaka yobomi bomntu oneSanfilippo Syndrome?

Kuphononongo lwezigulane ezili-113 ezineSanfilippo syndrome, umyinge wobomi obulindelekileyo yayiku:

• Uhlobo A: Phakathi kweminyaka eli-11 neli-19 ubudala.
• Uhlobo B: Phakathi kweminyaka eli-12 neli-16 ubudala.
• Uhlobo C: Phakathi kweminyaka eli-14 nengama-32 ubudala.

Uhlobo D lunqabile kakhulu, ngoko ke akukho lwazi lwaneleyo ngalo.

Kodwa, okona kubaluleke kakhulu, wonke umntwana oneSanfilippo syndrome wahlukile . Iqela lezonyango lomntwana wakho liza kuba ngumntu ofanelekileyo ukukunika umbono olungileyo wendlela le meko eza kuyichaphazela ngayo impilo yomntwana wakho.

Ngaba iSanfilippo Syndrome ingathintelwa?

Ngenxa yokuba iSanfilippo syndrome sisifo esibangelwa lufuzo, akukho nto unokuyenza ukuyithintela .

Ngaphambi kokuba ube nomntwana, ukuba ukhathazekile ngomngcipheko wokudlulisela iSanfilippo syndrome okanye ezinye iimeko zofuzo kumntwana wakho, kungcono ukuthetha nogqirha kwaye ufumane ingcebiso ngezofuzo .

Ukuba umntwana wam uneSanfilippo Syndrome, ndingamnyamekela njani?

Ukuba umntwana wakho uneSanfilippo syndrome, kubaluleke kakhulu ukuqinisekisa ukuba ufumana unyango olungcono kangangoko . Ngokumela umntwana wakho, unokunceda ukuqinisekisa ukuba unobomi obusemgangathweni ongcono kangangoko.

Wena nosapho lwakho ninokujoyina iqela lenkxaso apho ninokudibana khona nabanye abaye baba namava afanayo. Oku kungaba ngumthombo omkhulu wamandla.

Iimeko eziye zibuthathaka kancinci kancinci kwinkqubo yemithambo-luvo, ezifana neSanfilippo syndrome, zinokuba nefuthe elibi kakhulu kwimpilo yengqondo yakho neyentsapho yakho kunye nomgangatho wobomi. Abazali nabanakekeli babantwana abaneSanfilippo syndrome basengozini enkulu yokuhlaselwa zizifo ezifana nePost -Traumatic Stress Disorder (PTSD) . Ke ngoko, kufuneka ukhathalele impilo yakho yengqondo. Ukuba unengxaki yokudakumba, ixhala, okanye uxinzelelo olude, qiniseka ukuba ubona ugqirha wengqondo okanye umcebisi.

Umntwana wam ufanele aye nini kugqirha?

Kufuneka iqela lezonyango lomntwana wakho limhlole rhoqo rhoqo kwiinyanga ezi-6 ukuya kwezili-12 (okanye rhoqo) ukuze libone utshintsho kwizakhono zakhe zengqondo, izakhono zakhe zokunyakaza, kunye nokuziphatha kwakhe. Ukuba ubona naziphi na iimpawu ezintsha, okanye ukuba iimpawu zakho zibonakala zisiba mandundu, thetha neqela lezonyango lomntwana wakho ngoko nangoko.

Okokugqibela, izinto ekufuneka uzikhumbule

Kuqhelekile ukuziva uxinezelekile kwaye wothukile xa usiva ukuxilongwa kweSanfilippo syndrome. Kodwa khumbula, iqela lezonyango lomntwana wakho liza kubonelela ngesicwangciso solawulo esipheleleyo esichaphazela umntwana wakho. Kubalulekile ukuqinisekisa ukuba wena, umntwana wakho, kunye nosapho lwakho nifumana inkxaso abayidingayo, kwaye nihlale niphaphile ngempilo yomntwana wakho. Iqela lezonyango lomntwana wakho likulungele ukukuxhasa kuyo yonke inyathelo. Musa ukoyika, jongana nalo mceli mngeni ngenkalipho. Musa ukuthandabuza ukufunda ulwazi olufunayo, ubuze imibuzo, kwaye ufumane uncedo olufunayo.

I- Sanfilippo syndrome, izifo zemfuza, izifo zabantwana, inkqubo yemithambo-luvo, ii-enzymes, i-mucopolysaccharidosis