Calaamadaha Sanfilippo Syndrome iyo sida loo daaweeyo

Qanacsan

• Calaamadaha cudurka Sanfilippo Syndrome
• Noocyada Sanfilippo Syndrome
• Sida daaweynta loo sameeyo

Cudurka 'Sanfilippo Syndrome', oo sidoo kale loo yaqaan 'mucopolysaccharidosis type III ama MPS III', waa cudur ku dhaca hiddo-wadaha hidde-wadaha oo lagu garto dhaqdhaqaaq yaraaday ama maqnaanshaha enzyme mas'uul ka ah hoos u dhigidda qayb ka mid ah sokorta silsiladda dheer, heparan sulfate, taasoo keeneysa walaxdan in lagu ururiyo unugyada iyo waxay keenaan astaamaha neerfaha, tusaale ahaan.

Calaamadaha Sanfilippo Syndrome si tartiib tartiib ah ayey isu beddelayaan, waxaana marka hore laga garan karaa dhibaatooyinka xagga feejignaanta iyo dib u dhaca hadalka, tusaale ahaan. Xaaladaha aadka u horumarsan ee cudurka, waxaa jiri kara isbedelo maskaxeed iyo arag la'aan, marka waa muhiim in cudurka la ogaado marxaladihiisa hore si looga hortago bilawga astaamaha daran.

Calaamadaha cudurka Sanfilippo Syndrome

Calaamadaha Sanfilippo Syndrome badanaa way adag tahay in la garto, maadaama ay ku jahwareeri karaan xaalado kale, si kastaba ha noqotee waxay u muuqan karaan carruurta laga bilaabo 2 sano jir waxayna ku kala duwan yihiin hadba heerka cudurka, astaamaha ugu muhiimsan waa:

• Dhibaatooyinka waxbarashada;
• Dhibaato xagga hadalka;
• Shuban joogto ah;
• Infekshannada soo noqnoqda, inta badan dhegta;
• Kacsanaanta;
• Hurdo xumo;
• Ciladaha lafaha khafiifka ah;
• Kobaca timaha dhabarka iyo wajiyada gabdhaha;
• Dhibaato xoog saarida;
• Beerka iyo beeryarada oo weynaaday.

Xaaladaha aadka u daran, ee badanaa dhaca dhallinta dambe iyo qaan-gaarnimada hore, astaamaha dabeecadda si tartiib tartiib ah ayey u baaba'aan, hase yeeshe isugeynta badan ee heparan sulfate ee unugyada, calaamadaha neerfaha, sida waallida, tusaale ahaan, way soo muuqan karaan. hoos u dhacday, taasoo keentay luminta aragga iyo hadalka, xirfadaha dhaqdhaqaaqa oo yaraaday iyo isku dheelitirnaan la'aanta.

Noocyada Sanfilippo Syndrome

Sanfilippo Syndrome waxaa loo kala saari karaa 4 nooc oo waaweyn marka loo eego enzme-ka aan jirin ama hawl yar. Noocyada ugu waaweyn ee cilladani waa:

• Nooca A ama Mucopolysaccharidosis III-A: Waxaa jira maqnaansho ama joogitaan foom la beddelay ee enzyme heparan-N-sulfatase (SGSH), qaabkan cudurka waxaa loo tixgeliyaa inuu yahay midka ugu daran uguna caansan;
• Nooca B ama Mucopolysaccharidosis III-B: Waxaa jira yaraanta enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Nooca C ama Mucopolysaccharidosis III-C: Waxaa jira yaraanta enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Nooca D ama Mucopolysaccharidosis III-D: Waxaa jira yaraanta enzyme-ka N-acetylglycosamine-6-sulfatase (GNS).

Ciladda cudurka Sanfilippo Syndrome waxaa lagu sameeyaa iyadoo lagu saleynayo qiimeynta astaamaha uu soo bandhigo bukaanka iyo natiijada baaritaanka shaybaarka. Guud ahaan waxaa lagula talinayaa in la sameeyo baaritaanada kaadi si loo hubiyo isku-darka sokorta silsiladda dheer, baaritaanka dhiigga si loo hubiyo waxqabadka enzymes iyo in la hubiyo nooca cudurka, marka lagu daro baaritaanka hidda-socodka si loo ogaado isbeddellada mas'uulka ka ah cudurka. .

Sida daaweynta loo sameeyo

Daaweynta Sanfilippo Syndrome ayaa ujeedadeedu tahay in la yareeyo astaamaha, waana muhiim in ay fuliyaan koox isku dhafan, taas oo ka kooban dhakhtarka carruurta ama dhakhtarka guud, neerfaha, orthopedist, dhakhtarka indhaha, cilmu-nafsiga, dabiibista shaqada iyo jimicsiga jirka, tusaale ahaan, horeyba in cilladan cilmu-nafsiga ah astaamuhu horumar yihiin.

Marka cudurka lagu sameeyo marxaladaha hore ee cudurka, tallaalka dhuuxa lafta wuxuu yeelan karaa natiijooyin wanaagsan. Intaas waxaa sii dheer, marxaladaha hore waxaa macquul ah in laga fogaado in astaamaha neurodegenerative iyo kuwa la xiriira motricity iyo hadalka ay aad u daran yihiin, marka waa muhiim inaad yeelato fadhi jimicsi iyo jimicsi jimicsi, tusaale ahaan.

Intaas waxaa sii dheer, waxaa muhiim ah in haddii ay jiraan taariikh qoys ama lammaanaha ay qaraabo yihiin, waxaa lagu talinayaa in latalinta hidda-socodka la sameeyo si loo hubiyo halista cunugga ee cudurka. Sidaas awgeed, waxaa suurtagal ah in waalidiinta lagala taliyo cudurka iyo sida looga caawin karo ilmaha inuu helo nolol caadi ah. Fahmaan sida latalinta hidaha loo sameeyo.