Matšoao a Sanfilippo Syndrome le hore na kalafo e etsoa joang

Litaba

• Matšoao a Sanfilippo Syndrome
• Mefuta ea Sanfilippo Syndrome
• Kalafo e etsoa joang

Sanfilippo Syndrome, eo hape e tsejoang e le mucopolysaccharidosis mofuta oa III kapa MPS III, ke lefu la ts'oaetso ea liphatsa tsa lefutso le khetholloang ke ts'ebetso e fokotsehileng kapa ho ba sieo ha enzyme e ikarabellang bakeng sa karolo e nyelisang ea tsoekere e telele, heparan sulfate, e etsang hore ntho ena e bokellane liseleng ho fella ka matšoao a methapo, mohlala.

Matšoao a Sanfilippo Syndrome a fetoha butle-butle, 'me qalong a ka bonoa ka mathata a ho tsepamisa mohopolo le ho liehisa nts'etsopele ea puo, mohlala. Maemong a tsoetseng pele haholo a lefu lena, ho ka ba le liphetoho kelellong le ho lahleheloa ke pono, kahoo ho bohlokoa hore lefu lena le fumanoe mathatong a lona a pele ho thibela ho qala ha matšoao a matla.

Matšoao a Sanfilippo Syndrome

Matšoao a Sanfilippo Syndrome hangata ho thata ho a tseba, hobane a ka ferekanngoa le maemo a mang, leha ho le joalo a ka hlaha ho bana ba lilemo li 2 mme a fapana ho latela boemo ba kholo ea lefu lena, matšoao a mantlha ke:

• Mathata a ho ithuta;
• Ho thata ho bua;
• Letšollo khafetsa;
• Matšoao a iphetang, haholo litsebeng;
• Ho hloka botsitso;
• Ho robala ka thata;
• Bofokoli bo bonolo ba masapo;
• Moriri o holang mekokotlong le lifahlehong tsa banana;
• Ho thata ho tsepamisa mohopolo;
• Ho eketsa sebete le spleen.

Maemong a boima le ho feta, a atisang ho hlaha lilemong tsa bocha le ho ba motho e moholo, matšoao a boits'oaro a nyamela butle-butle, leha ho le joalo ka lebaka la pokello e kholo ea heparan sulfate liseleng, ka mohlala, matšoao a neurodegenerative, joalo ka 'dementia' a ka hlaha. hlaseloa, ho baka tahlehelo ea pono le puo, ho fokotsa tsebo ea makoloi le tahlehelo ea botsitso.

Mefuta ea Sanfilippo Syndrome

Sanfilippo Syndrome e ka aroloa ka mefuta e meholo e mene ho latela enzyme e seng teng kapa e se nang tšebetso e tlase. Mefuta ea mantlha ea lefu lena ke:

• Mofuta oa A kapa Mucopolysaccharidosis III-A: Ho na le bosieo kapa boteng ba mofuta o fetotsoeng oa enzyme heparan-N-sulfatase (SGSH), mofuta ona oa lefu lena o nkuoa o le kotsi ka ho fetesisa ebile o atile;
• Mofuta oa B kapa Mucopolysaccharidosis III-B: Ho na le khaello ea enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Mofuta oa C kapa Mucopolysaccharidosis III-C: Ho na le khaello ea enzyme ea acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Mofuta oa D kapa Mucopolysaccharidosis III-D: Ho na le khaello ea enzyme ea N-acetylglycosamine-6-sulfatase (GNS).

Ho fumanoa ha Sanfilippo Syndrome ho etsoa ho ipapisitse le tlhahlobo ea matšoao a hlahisoang ke mokuli le sephetho sa liteko tsa laboratori. Ka kakaretso ho khothaletsoa ho etsa liteko tsa moroto ho lekola tsoekere ea ketane e telele, liteko tsa mali ho lekola tšebetso ea li-enzyme le ho lekola mofuta oa lefu lena, ntle le liteko tsa liphatsa tsa lefutso e le ho supa phetoho e ikarabellang bakeng sa lefu lena .

Kalafo e etsoa joang

Kalafo ea Sanfilippo Syndrome e ikemiselitse ho fokotsa matšoao, 'me ho bohlokoa ho etsoa ke sehlopha sa lithuto tse fapaneng, ke hore, se entsoeng ke ngaka ea bana kapa ngaka e akaretsang, ngaka ea methapo, orthopedist, ophthalmologist, setsebi sa kelello, setsebi sa bongaka le physiotherapist, mohlala, hore ho lefu lena matšoao a ntse a tsoela pele.

Ha tlhahlobo e etsoa maemong a pele a lefu lena, ho fetisoa ha moko oa masapo ho ka ba le litholoana tse ntle. Ntle le moo, maemong a pele ho a khonahala ho qoba hore matšoao a neurodegenerative le a amanang le motricity le puo a tebile haholo, ka hona ho bohlokoa ho ba le physiotherapy le linako tsa kalafo ea mosebetsing.

Ntle le moo, ho bohlokoa hore haeba ho na le nalane ea lelapa kapa banyalani ke beng ka bona, ho khothaletsoa hore tlhabollo ea lefutso e etsoe ho lekola kotsi ea ngoana ea ho ba le lefu lena. Kahoo, batsoali ba ka khona ho eletsa ka lefu lena le hore na ba ka thusa ngoana joang hore a phele bophelo bo tloaelehileng. Utloisisa hore na tlhabollo ea lefutso e etsoa joang.