Iimpawu zeSanfilippo Syndrome kunye nokuba lwenziwa njani unyango

Umxholo

• Iimpawu zeSanfilippo Syndrome
• Iindidi zeSanfilippo Syndrome
• Unyango lwenziwa njani

I-Sanfilippo Syndrome, ekwabizwa ngokuba yi-mucopolysaccharidosis yohlobo lwe-III okanye i-MPS III, sisifo semetabolism esiboniswa kukuncipha kwemisebenzi okanye ukungabikho kwe-enzyme ejongene nokuthotywa kwenxalenye yeswekile ende, i-heparan sulphate, ebangela ukuba le nto iqokelelwe kwiiseli kunye iziphumo kwiimpawu zemithambo-luvo, umzekelo.

Iimpawu zeSanfilippo Syndrome ziya ziguquka, kwaye ekuqaleni kunokubonwa kubunzima ekugxininiseni nasekulibaziseni ukukhula kwentetho, umzekelo. Kwiimeko ezihambele phambili zesi sifo, kunokubakho utshintsho lwengqondo kunye nokulahleka kombono, ke kubalulekile ukuba isifo sifunyaniswe kumanqanaba aso okuqala ukuthintela ukuqala kweempawu ezinzima.

Iimpawu zeSanfilippo Syndrome

Iimpawu zeSanfilippo Syndrome zihlala kunzima ukuzibona, kuba zinokudideka nezinye iimeko, nangona kunjalo zinokubonakala kubantwana abaneminyaka emi-2 ubudala kwaye ziyahluka ngokwenqanaba lesifo, ezona mpawu ziphambili zezi:

• Ubunzima bokufunda;
• Kunzima ukuthetha;
• Urhudo rhoqo;
• Izifo ezenzeka rhoqo, ikakhulu endlebeni;
• Ukusebenza kakhulu;
• Kunzima ukulala;
• Ukukhubazeka kwamathambo;
• Ukukhula kweenwele emqolo nasebusweni bamantombazana;
• Ubunzima bokugxila;
• Ukwandiswa kwesibindi kunye ne-spleen.

Kwiimeko ezinzima kakhulu, ezihlala zenzeka ebusheni nasekufeni ebudaleni, iimpawu zokuziphatha ziyanyamalala ngokuthe ngcembe, nangona kunjalo ngenxa yokuqokelelwa okukhulu kwe-heparan sulphate kwiiseli, iimpawu ze-neurodegenerative, ezinje ngesifo sengqondo esixhalabisayo, umzekelo. sengozini, kukhokelela ekuphulukaneni nombono kunye nentetho, ukwehla kwezakhono zemoto kunye nelahleko yomlinganiso.

Iindidi zeSanfilippo Syndrome

I-Sanfilippo Syndrome inokuhlelwa kwiindidi ezi-4 eziphambili ngokwe-enzyme engekho okanye enomsebenzi ophantsi. Ezona ntlobo ziphambili zale syndrome zezi:

• Uhlobo lwe-A okanye iMucopolysaccharidosis III-A: Kukho ukungabikho okanye ukubakho kwefom eguqulweyo ye-enzyme heparan-N-sulfatase (SGSH), le fomu yesi sifo ithathwa njengeyona inzima kwaye ixhaphakileyo;
• Uhlobo lwe-B okanye iMucopolysaccharidosis III-B: Kukho ukunqongophala kwe-enzyme i-alpha-N-acetylglucosaminidase (NAGLU);
• Uhlobo C okanye iMucopolysaccharidosis III-C: Kukho ukunqongophala kwe-enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Uhlobo D okanye iMucopolysaccharidosis III-D: Kukho ukunqongophala kwe-enzyme N-acetylglycosamine-6-sulfatase (GNS).

Ukuchongwa kweSanfilippo Syndrome kwenziwa ngokusekwe kuvavanyo lweempawu eziboniswe sisigulana kunye nesiphumo sovavanyo lwaselebhu. Kucetyiswa ngokubanzi ukuba kwenziwe uvavanyo lomchamo ukukhangela iswekile yetyathanga elide, uvavanyo lwegazi ukujonga umsebenzi wee enzymes kunye nokujonga uhlobo lwesifo, ukongeza kuvavanyo lwemfuza ukuze kuchongwe utshintsho olunoxanduva lwesifo .

Unyango lwenziwa njani

Unyango lweSanfilippo Syndrome lujolise ekunciphiseni iimpawu, kwaye kubalulekile ukuba kwenziwe liqela elinamacandelo ahlukeneyo, oko kukuthi, elenzelwe ugqirha wabantwana okanye ugqirha oqhelekileyo, ugqirha wemithambo-luvo, ugqirha wamathambo, ugqirha wamehlo, ugqirha wezengqondo, ugqirha wezonyango kunye nomzimba, umzekelo, sele ukuba kule syndrome iimpawu ziyaqhubeka.

Xa isifo senziwe kwinqanaba lokuqala lesi sifo, ukufakelwa komongo wethambo kunokuba neziphumo ezilungileyo. Ukongeza, kumanqanaba okuqala kunokwenzeka ukunqanda ukuba iimpawu ze-neurodegenerative kunye nezo zinxulumene nemetricity kunye nentetho zinobuzaza kakhulu, ke ngoko kubalulekile ukuba ne-physiotherapy kunye neeseshoni zonyango emsebenzini, umzekelo.

Ukongeza, kubalulekile ukuba ukuba kukho imbali yosapho okanye isibini esisizalwane, kuyacetyiswa ukuba ukwenziwa kwengcebiso ngemfuzo makwenziwe ukujonga umngcipheko wokuba nesifo. Ke, kunokwenzeka ukuba ucebise abazali malunga nesi sifo kunye nendlela yokunceda umntwana ukuba aphile ubomi obuqhelekileyo. Qonda indlela eyenziwa ngayo ingcebiso ngemfuzo.