Ingabe ingane yakho encane inalezi zimpawu? Ake sifunde nge-Sanfilippo Syndrome

Ingabe ubona noma yiziphi izinguquko ekuziphatheni kwengane yakho, ekukhulumeni, noma ekubukekeni okuthola kunzima ukuziqonda? Ngezinye izikhathi asazi okuningi ngezinye izifo ezithinta izingane ezincane, ngakho-ke siqala ukucabanga ngezinto eziningana. Namuhla, sizokhuluma ngesimo esiyinkimbinkimbi kancane, kodwa okufanele wonke umuntu asiqaphele. Lokhu kubizwa ngokuthi i-Sanfilippo syndrome . Ungakhathazeki, sizoxoxa ngakho ngokuningiliziwe nangokulula.

Iyini i-Sanfilippo Syndrome?

Kalula nje, i-Sanfilippo syndrome yisimo sofuzo esizuzwa njengefa . Empeleni iyiqembu lezifo. Ithinta kakhulu uhlelo lwezinzwa oluphakathi lwengane yakho, oluyingqondo nomgogodla. Lokhu kungabangela izimpawu ezahlukahlukene ezindaweni zokuqonda, zokuziphatha, nezomzimba zengane. Ngeshwa, lezi zimpawu zivame ukuba zimbi ngokuhamba kwesikhathi, futhi lesi simo singanciphisa isikhathi sokuphila kwezingane.

Elinye igama lalokhu yi -mucopolysaccharidosis uhlobo lwesithathu (MPS III) .

Cabanga ngakho, ngaphakathi kwamangqamuzana ethu kukhona "izikhungo zokulahla udoti" ezincane. Lawa abizwa ngokuthi ama-lysosome . Lawa yiwo abhidliza futhi asuse izinto ezingafuneki, noma "udoti," onqwabelana ngaphakathi kwamangqamuzana. Ingane ene-Sanfilippo syndrome ayinayo enye yama-enzyme amane adingekayo ukubhidliza i-carbohydrate eyinkimbinkimbi ebizwa ngokuthi i-heparan sulfate ( ebizwa nangokuthi i-glycosaminoglycan ). Ngenxa yokuthi le enzyme ayisebenzi kahle, into ebizwa ngokuthi i-heparan sulfate inqwabelana ngaphakathi kwamangqamuzana engane, izicubu, kanye nezitho zomzimba. Lokhu kwakheka kubangela umonakalo kuzo. Yilokhu esikubiza ngokuthi i-lysosomal storage disorder .

Ingabe zikhona izinhlobo zeSanfilippo Syndrome?

Yebo, kunezinhlobo ezine eziyinhloko zalokhu. Uhlobo ngalunye lubangelwa ukuntuleka kwe-enzyme ehlukile.

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

Kulezi, uhlobo A luyinhlobo evame kakhulu emhlabeni jikelele , kuyilapho uhlobo D luyinhlobo engavamile kakhulu.

Sivame kangakanani lesi simo?

I-Sanfilippo syndrome iyisimo esingavamile kakhulu.Ngokusho kwabacwaningi, lokhu kuthinta cishe umuntu oyedwa kubantu abangu-50,000 kuya ku-250,000. Ngakho-ke ungabona ukuthi lokhu kuyivelakancane kangakanani.

Ziyini izimpawu zeSanfilippo Syndrome?

Izimpawu kanye nobunzima balesi simo kungahlukahluka kuye ngengane, kanye nokuya ngohlobo lwesifo. Ezinye zezimpawu zokuqala ezingabonakala ezinsaneni ezisanda kuzalwa kanye nezingane ezincane zifaka:

• Izici zobuso ezimahhadlahhadla .
• Izinkophe ezicacile nezibanzi.
• Ukuba nezinwele zomzimba ezingaphezu kwezivamile (i-hirsutism) akunciphi ngokuhamba kwesikhathi.
• Inkulu kunosayizi wekhanda ojwayelekile (i-macrocephaly).
• Izinkinga zokulala, ubunzima bokulala.
• Izinkinga zokuphefumula, isibonelo, ukuminyana kwendlebe kanye/noma impumulo, ubunzima bokuphefumula.
• Ubuhlungu obukhulu besisu nokukhala (iziqephu ezifana ne-colic).
• Uhudo oluvamile.

Ungase ungaziboni lezi zimpawu zakuqala ngokushesha. Njengoba ingane yakho ikhula, ezinye izimpawu ezihlobene ne-Sanfilippo syndrome zizoqala ukuvela. Lezi zimpawu zivame ukuvela phakathi kweminyaka eyi-1 neyi-4 .

Izici ezihlobene nohlelo lwezinzwa kanye nokuziphatha:

• Ukuphuza ukukhuluma kanye namakhono olimi (ngokuvamile kuyisibonakaliso sokuqala).
• Intuthuko yengane iyabambezeleka ngaphandle kwesizathu esithile (ukubambezeleka kwentuthuko okungeyona into ethile).
• Amakhono obuhlakani ayawohloka ngokuhamba kwesikhathi.
• Ukuziphatha okunolaka noma okulimazayo .
• Ukungakhathali.
• Ukuziphatha okungenasibopho, ukuqhuma kwentukuthelo okungazelelwe (ukucasuka kwentukuthelo).
• Ukungesabi izinto eziyingozi.
• Ukuluma njalo, ukuklebhula, ukumunca, noma ukugwinya (ukwanda komsindo).
• Ukungahlaliseki.
• Izinkinga zokulala - ukwesaba ukulala, i-parasomnias, kanye ne-sleep apnea.
• Izinguquko endleleni yokuhamba, isibonelo, ukuhamba ngezinyawo .
• Ukuqina komzimba, ukuqaqamba.
• Ukuquleka.

Izimpawu zendlebe, impumulo nomphimbo:

• Ukulahlekelwa ukuzwa.
• Ukutheleleka kwendlebe okuvamile (i-otitis).
• Ukuminyana kwamakhala okuqhubekayo.
• Kudingeka kususwe ama-adenoid nama-tonsils (i-adenotonsillectomy) ngaphambi kwezingane ezivamile.

Ezinye izimpawu:

• Uhudo noma ukuqunjelwa isikhathi eside.
• Ukuqunjelwa.
• Ukungakhululeki esiswini.
• Ukungalingani kwesigqi senhliziyo (i-arrhythmia).
• Isifo semisipha yenhliziyo (cardiomyopathy).
• Ukuqina kwamalunga.
• I-Scoliosis.

Yini ebangela i-Sanfilippo Syndrome?

Njengoba sishilo ngaphambili, i-Sanfilippo syndrome iyisifo se-Lysosomal Storage Disease (LSD).Kuyisifo sofuzo esiyingxenye yeqembu elibizwa ngokuthi. Abantu abanalesi sifo baqoqa izinto ezinobuthi emaseli emizimba yabo. Isizathu salokhu ukuthi amanye ama-enzyme emizimbeni yabo awasebenzi kahle noma awekho . Uma la ma-enzyme engekho, imizimba yethu ayikwazi ukuwohloka nokususa izinto ezithile. Kulapho ziqoqana emzimbeni lapho ziba yingozi khona.

Ku-Sanfilippo syndrome, enye yama-enzyme amane asiza ekuqhekekeni kwento ebizwa ngokuthi i-heparan sulfate ayitholakali. I-Heparan sulfate bese iqoqana emaselini bese iwalimaza. Lokhu kuqoqana kuthinta kakhulu amangqamuzana obuchopho bengane .

Lokhu kuntuleka kwama-enzyme kubangelwa ukushintshashintsha kwezakhi zofuzo , ikakhulukazi ukushintshashintsha kwezakhi zofuzo njengezakhi zofuzo ze-SGSH .

Lezi zinguquko zofuzo zizuzwa yingane kubo bobabili abazali. Lokhu kubizwa ngokuthi iphethini yefa le-autosomal recessive . Lokhu kusho ukuthi bobabili abazali kumele babe ngabathwali be-gene eshintshiwe. Kodwa-ke, umthwali walesi gene ngokuvamile akabonisi zimpawu.

Uyithola kanjani ngokunembile lesi sifo?

Ngenxa yokuthi i-Sanfilippo syndrome ayivamile futhi izimpawu zayo zifana nezezinye izimo ezivamile , ukuxilongwa ngokuvamile kungabambezeleka. Odokotela bangase bahlole lesi simo ngokungalungile njengokulibaziseka kokukhula, i-Attention-Deficit/Hyperactivity Disorder (ADHD) , noma i-autism .

Udokotela wengane yakho uzokwenza ukuhlolwa ngokomzimba kanye nokuhlolwa kwezinzwa. Bazobuza nangezimpawu zengane yakho kanye nomlando wezokwelapha. Bangase futhi bacele ukuhlolwa ukuze banqume ezinye izimo.

Ukuhlolwa okusiza ukuqinisekisa ukutholakala kwe-Sanfilippo syndrome yile:

• Ukuhlolwa komchamo kwe-GAG: Isampula yomchamo evela enganeni iyahlolwa ukuthi ikhona yini into ebizwa ngokuthi i-glycosaminoglycans (GAG) .
• Ukuhlaziywa kwama-enzyme: Umsebenzi wama-enzyme afanele ulinganiswa kusampula yegazi.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlolwa kungahlola izinguquko zezakhi zofuzo (ukuguqulwa kwezakhi zofuzo) okwaziwa ukuthi kuhlotshaniswa ne-Sanfilippo syndrome.

Ngaphezu kwalokho, udokotela angase ancome ezinye izivivinyo ukuze abone ukuthi kukhona yini umonakalo ezithweni noma ezicutshini zengane. Isibonelo:

• Iskeni se-MRI yobuchopho.
• Ukuhlolwa kwamehlo.
• Ukuhlolwa kokuzwa.
• Ukuhlolwa kwenhliziyo - njenge -echocardiogram kanye ne-electrocardiogram (EKG) .
• Ucwaningo lokulala.
• Ukuhlolwa kwe-X-ray.

Ukuxilongwa Kwangaphambi Kokubeletha

Uma othile emndenini wakho eke waba ne-Sanfilippo syndrome, udokotela wakho angase akuncome ukuthi uhlole ingane yakho engakazalwa ukuze athole lesi simo ngesikhathi sokukhulelwa. Lokhu kungenziwa ngokuhlolwa okufana ne -amniocentesis noma i-chorionic villus sampling .

Yiziphi izindlela zokwelapha i-Sanfilippo Syndrome?

Ngeshwa, okwamanje akukho ukwelashwa noma ukwelashwa okuguqula izifo kwe-Sanfilippo syndrome . Ukwelashwa kugxile kakhulu ekuphathweni kwezimpawu kanye nokunakekelwa kobuhlungu . Ngenxa yokuthi lesi simo sithinta izici eziningi zempilo yengane, kudingeka ithimba lodokotela elihlukahlukene ukuze liphathe ingane. Leli thimba lingafaka:

• Odokotela bezingane.
• Odokotela bezinzwa bezingane.
• Abelaphi bomzimba.
• Abelaphi bezemisebenzi.
• Izazi zezifo zolimi lokukhuluma.
• Odokotela bamehlo (ochwepheshe bezindlebe, impumulo kanye nomphimbo).
• Izazi zengqondo zezingane.
• Izisebenzi zezenhlalakahle.
• Abafundisi abakhethekile.

Laba ochwepheshe batusa imithi, ukwelashwa, kanye namadivayisi okusiza aklanyelwe izidingo zengane. Imigomo eyinhloko yokwelashwa ukugcina umsebenzi womzimba wengane, ukwandisa amakhono ayo, kanye nokugcina izinga eliphezulu lokuphila.

Ingane yakho ingase ibe nethuba lokubamba iqhaza esivivinyweni somtholampilo . Buza ithimba lezokwelapha lengane yakho ngalokhu. Abacwaningi okwamanje bafunda izindlela ezithile zokwelapha i-Sanfilippo syndrome. Isibonelo:

• Ukwelashwa kokufaka esikhundleni sama-enzyme.
• Ukufakelwa kwamaseli esiqu.
• Ukwelashwa nge-gene.

Ezigabeni zakamuva zesifo, okubaluleke kakhulu ekwelashweni ukugcina izinga lempilo nokuvimbela izinkinga.

Yini okufanele ngiyilindele uma ingane yami ine-Sanfilippo Syndrome?

Uma ingane yakho ine-Sanfilippo syndrome, cishe uzoba nokuhlolwa njalo kwezokwelapha. Kungaba nzima ukuqonda lesi simo esiyinkimbinkimbi ngesikhathi esisodwa. Kodwa khumbula, ithimba lezokwelapha lengane yakho linawe kuzo zonke izinyathelo. Ngenxa yokuthi i-Sanfilippo syndrome ithinta ingane ngayinye ngendlela ehlukile, ithimba lezokwelapha lengane yakho lingakweluleka kangcono ngalokho ikusasa elikuphathele ingane yakho nomndeni wakho.

Ezigabeni zokugcina ze-Sanfilippo syndrome, ingane yakho ingase ibhekane nalokhu okulandelayo:

• Ukuxhumana okunciphile nendawo ezungezile.
• Isifo sokulahlekelwa yingqondo .
• Ukulahlekelwa yimisebenzi yomzimba njengokuhamba, ukukhuluma nokudla.

Lezi zinkinga zempilo ziya ziba zimbi ngokuhamba kwesikhathi futhi ekugcineni zingaholela ekufeni. Ukutheleleka kwezifo zokuphefumula, ikakhulukazi i-pneumonia , kuyimbangela evame kakhulu yokufa.

Ingakanani iminyaka yokuphila komuntu one-Sanfilippo Syndrome?

Ocwaningweni lweziguli ezingu-113 ezine-Sanfilippo syndrome, isilinganiso sobude bokuphila kwaba:

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

Uhlobo D luyivelakancane kakhulu, ngakho-ke alukho ulwazi olwanele ngalo.

Kodwa, okubaluleke kakhulu, yonke ingane ene-Sanfilippo syndrome ihlukile . Ithimba lezokwelapha lengane yakho lizoba umuntu ongcono kakhulu wokukunikeza umbono omuhle wokuthi lesi simo sizoyithinta kanjani impilo yengane yakho.

Ingabe iSanfilippo Syndrome ingavinjelwa?

Ngenxa yokuthi i-Sanfilippo syndrome iyisifo esibangelwa ufuzo, akukho ongakwenza ukuyivimbela .

Ngaphambi kokuba nomntwana, uma ukhathazekile ngengozi yokudlulisela i-Sanfilippo syndrome noma ezinye izimo zofuzo enganeni yakho, kuwumqondo omuhle ukukhuluma nodokotela bese uthola ukwelulekwa ngofuzo .

Uma ingane yami ine-Sanfilippo Syndrome, kufanele ngiyinakekele kanjani?

Uma ingane yakho ine-Sanfilippo syndrome, kubaluleke kakhulu ukuqinisekisa ukuthi ithola ukunakekelwa kwezokwelapha okungcono kakhulu . Ngokumela ingane yakho, ungasiza ekuqinisekiseni ukuthi inekhwalithi engcono kakhulu yokuphila.

Wena nomndeni wakho ningajoyina iqembu lokusekelana lapho ningahlangana khona nabanye abaye baba nokuhlangenwe nakho okufanayo. Lokhu kungaba umthombo omkhulu wamandla.

Izimo ezenza buthaka kancane kancane isimiso sezinzwa, njenge-Sanfilippo syndrome, zingaba nomthelela omubi kakhulu empilweni yakho yengqondo kanye neyomndeni wakho kanye nekhwalithi yokuphila. Abazali nabanakekeli bezingane ezine-Sanfilippo syndrome basengozini enkulu yokuthola izimo ezifana ne -Post-Traumatic Stress Disorder (PTSD) . Ngakho-ke, kufanele futhi unakekele impilo yakho yengqondo. Uma ubhekene nokucindezeleka, ukukhathazeka, noma ukucindezeleka isikhathi eside, qiniseka ukuthi ubona udokotela wezifo zengqondo noma umeluleki.

Ingane yami kufanele ibone nini udokotela?

Kufanele ucele ithimba lezokwelapha lengane yakho ukuba liyihlole njalo njalo ezinyangeni ezingu-6 kuya kwezingu-12 (noma kaningi) ukuze libone izinguquko emakhonweni ayo okuqonda, amakhono okunyakaza komzimba, kanye nokuziphatha. Uma ubona noma yiziphi izimpawu ezintsha, noma uma izimpawu zakho zibonakala ziba zimbi kakhulu, khuluma nethimba lezokwelapha lengane yakho ngokushesha.

Okokugcina, izinto okufanele uzikhumbule

Kuvamile ukuzizwa ukhungathekile futhi ushaqekile uma uzwa ukuthi une-Sanfilippo syndrome. Kodwa khumbula, ithimba lezokwelapha lengane yakho lizokunikeza uhlelo lokuphatha oluphelele oluqondene ngqo nengane yakho. Kubalulekile ukuqinisekisa ukuthi wena, ingane yakho, nomndeni wakho nithola ukwesekwa abakudingayo, futhi nihlale niqaphile ngempilo yengane yakho. Ithimba lezokwelapha lengane yakho likulungele ukukusekela kuzo zonke izinyathelo zendlela. Ungesabi, bhekana nale nselele ngesibindi. Unganqikazi ukufunda ulwazi oludingayo, ubuze imibuzo, futhi uthole usizo oludingayo.

I- Sanfilippo syndrome, izifo zofuzo, izifo zezingane, isimiso sezinzwa, ama-enzyme, i-mucopolysaccharidosis