Izimpawu zeSanfilippo Syndrome nokuthi ukwelashwa kwenziwa kanjani

-Delile

• Izimpawu zeSanfilippo Syndrome
• Izinhlobo zeSanfilippo Syndrome
• Yelashwa kanjani

ISanfilippo Syndrome, eyaziwa nangokuthi i-mucopolysaccharidosis type III noma i-MPS III, iyisifo se-metabolic metabolism esibonakala ngokuncipha kokusebenza noma ukungabikho kwe-enzyme ebhekele ukwehlisa ingxenye kashukela omude wamaketanga, i-heparan sulfate, okwenza le nto iqoqane kumaseli umphumela wezimpawu zemizwa, ngokwesibonelo.

Izimpawu zeSanfilippo Syndrome ziya ngokuya ziguquka, futhi ekuqaleni zingabonakala ngobunzima ekugxileni nasekuthuthukisweni kwenkulumo, ngokwesibonelo. Ezimweni esezithuthuke kakhulu zalesi sifo, kungahle kube nezinguquko ngokwengqondo nokungaboni kahle, ngakho-ke kubalulekile ukuthi lesi sifo sitholakale sisezingeni laso lokuqala ukuvimbela ukuqala kwezimpawu ezinzima.

Izimpawu zeSanfilippo Syndrome

Izimpawu zeSanfilippo Syndrome kuvame ukuba nzima ukuzibona, ngoba zingadidaniswa nezinye izimo, kepha zingavela ezinganeni ezineminyaka emi-2 ubudala futhi ziyehluka ngokwesigaba sokukhula kwalesi sifo, izimpawu eziyinhloko yilezi:

• Ubunzima bokufunda;
• Kunzima ukukhuluma;
• Uhudo njalo;
• Izifo eziphindaphindayo, ikakhulukazi endlebeni;
• Ukungasebenzi kahle;
• Kunzima ukulala;
• Ukukhubazeka kwamathambo okuncane;
• Ukukhula kwezinwele emhlane nasebusweni bamantombazane;
• Kunzima ukugxila;
• Isibindi esikhulisiwe nobende.

Ezimweni ezinzima kakhulu, ezivame ukwenzeka ebusheni sekwedlule nasekubeni mdala, izimpawu zokuziphatha ziyanyamalala kancane kancane, kepha ngenxa yokuqoqwa okukhulu kwe-heparan sulfate kumaseli, izimpawu ze-neurodegenerative, ezinjengokuwohloka komqondo, ngokwesibonelo, zingavela. kuncishisiwe, okuholele ekulahlekelweni kombono nokukhuluma, kwehle amakhono emoto kanye nokulahlekelwa ibhalansi.

Izinhlobo zeSanfilippo Syndrome

I-Sanfilippo Syndrome ingahlukaniswa ngezinhlobo eziyinhloko ezi-4 ngokuya nge-enzyme engekho noma enomsebenzi ophansi. Izinhlobo eziyinhloko zalesi sifo yilezi:

• Thayipha A noma iMucopolysaccharidosis III-A: Kukhona ukungabi khona noma ukuba khona kwefomu eliguquliwe le-enzyme heparan-N-sulfatase (SGSH), leli fomu lesifo lithathwa njengelibi kakhulu nelivame kakhulu;
• Thayipha B noma iMucopolysaccharidosis III-B: Kukhona ukuntuleka kwe-enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Thayipha C noma iMucopolysaccharidosis III-C: Kukhona ukushoda kwe-enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Thayipha D noma iMucopolysaccharidosis III-D: Kukhona ukushoda kwe-enzyme N-acetylglycosamine-6-sulfatase (GNS).

Ukuxilongwa kweSanfilippo Syndrome kwenziwa ngokususelwa ekuhlolweni kwezimpawu ezivezwa yisiguli nomphumela wokuhlolwa kwelabhorethri. Ngokuvamile kunconywa ukuthi kwenziwe izivivinyo zomchamo ukuze kuhlolwe ushukela owenziwe ngamaketanga amade, ukuhlolwa kwegazi ukuhlola ukusebenza kwama-enzyme nokuhlola uhlobo lwesifo, ngaphezu kokuhlolwa kofuzo ukuze kutholakale ushintsho olubangela lesi sifo .

Yelashwa kanjani

Ukwelashwa kweSanfilippo Syndrome kuhlose ukunciphisa izimpawu, futhi kubalulekile ukwenziwa yithimba elenza imikhakha ehlukahlukene, okungukuthi, elenziwe ngudokotela wezingane noma udokotela ojwayelekile, udokotela wezifo zemithambo, udokotela wamathambo, udokotela wezifo zamehlo, isazi sokusebenza kwengqondo, owelapha emsebenzini kanye ne-physiotherapist, isibonelo, vele ukuthi kulesi sifo izimpawu ziyaqhubeka.

Lapho ukuxilongwa kwenziwa ezigabeni zokuqala zesifo, ukufakelwa umnkantsha wethambo kungaba nemiphumela emihle. Ngaphezu kwalokho, ezigabeni zokuqala kungenzeka ukuthi kugwenywe ukuthi izimpawu ze-neurodegenerative kanye nalezo ezihlobene nemotricity nenkulumo zibucayi kakhulu, ngakho-ke kubalulekile ukuba ne-physiotherapy kanye nezikhathi zokwelashwa emsebenzini, ngokwesibonelo.

Ngaphezu kwalokho, kubalulekile ukuthi uma kunomlando womndeni noma abashadayo beyisihlobo, kunconywa ukuthi ukwelulekwa ngezakhi zofuzo kubhekwe ubungozi bengane yokuba nalesi sifo. Ngakho-ke, kungenzeka ukweluleka abazali ngalesi sifo nokuthi ungasiza kanjani ingane ukuba iphile impilo ejwayelekile. Qonda ukuthi ukwelulekwa ngezakhi zofuzo kwenziwa kanjani.