Zizindikiro za Sanfilippo Syndrome ndi momwe amathandizira

Zamkati

• Zizindikiro za Sanfilippo Syndrome
• Mitundu ya Sanfilippo Syndrome
• Momwe mankhwalawa amachitikira

Sanfilippo Syndrome, yemwenso amadziwika kuti mucopolysaccharidosis mtundu III kapena MPS III, ndi matenda amtundu wamtundu wodziwika bwino omwe amachepetsa kuchepa kwa ntchito kapena kusowa kwa enzyme yomwe imapangitsa kuti gawo lina la shuga lalitali lalitali, heparan sulphate, lipangitsa kuti mankhwalawa asungunuke m'maselo ndi chifukwa cha matenda amitsempha, mwachitsanzo.

Zizindikiro za Sanfilippo Syndrome zimasintha pang'onopang'ono, ndipo zimatha kuzindikirika poyambilira pamavuto azisokonezo ndikuchepetsa kukula kwa mawu, mwachitsanzo. Matenda opita patsogolo kwambiri, pakhoza kukhala kusintha kwamalingaliro ndi kutayika kwa masomphenya, chifukwa chake ndikofunikira kuti matendawa amapezeka atangoyamba kumene kuti apewe kuyambika kwa zizindikilo zowopsa.

Zizindikiro za Sanfilippo Syndrome

Zizindikiro za Sanfilippo Syndrome nthawi zambiri zimakhala zovuta kuzizindikira, chifukwa zimatha kusokonezeka ndi zochitika zina, komabe zimatha kuwoneka mwa ana azaka ziwiri ndipo zimasiyana malinga ndi gawo lakukula kwa matendawa, zizindikilo zazikuluzo ndi izi:

• Zovuta zophunzirira;
• Kulankhula kovuta;
• Kutsekula m'mimba pafupipafupi;
• Matenda obwerezabwereza, makamaka m'makutu;
• Kusakhudzidwa;
• Kuvuta kugona;
• Kufooka kwapafupa;
• Kukula kwa tsitsi kumsana ndi nkhope za atsikana;
• Zovuta kukhazikika;
• Kukulitsa chiwindi ndi ndulu.

M'mavuto ovuta kwambiri, omwe nthawi zambiri amapezeka kumapeto kwa unyamata komanso msinkhu wachikulire, zizolowezi zamakhalidwe zimatha pang'onopang'ono, komabe chifukwa cha kuchuluka kwa heparan sulphate m'maselo, zizindikilo za neurodegenerative, monga matenda amisala, mwachitsanzo, ziwalo zina zitha kukhala kusokonekera, kumapangitsa kusowa kwa masomphenya ndi mayankhulidwe, kuchepa kwa luso lamagalimoto komanso kutayika.

Mitundu ya Sanfilippo Syndrome

Sanfilippo Syndrome imatha kugawidwa m'magulu anayi malinga ndi enzyme yomwe kulibe kapena yogwira ntchito zochepa. Mitundu yayikulu ya matendawa ndi awa:

• Lembani A kapena Mucopolysaccharidosis III-A: Pali kupezeka kapena kupezeka kwa mtundu wosintha wa enzyme heparan-N-sulfatase (SGSH), mawonekedwe amtunduwu amawonedwa kuti ndi oopsa kwambiri komanso ofala;
• Mtundu B kapena Mucopolysaccharidosis III-B: Pali kuchepa kwa michere alpha-N-acetylglucosaminidase (NAGLU);
• Mtundu C kapena Mucopolysaccharidosis III-C: Pali kuchepa kwa michere ya acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Lembani D kapena Mucopolysaccharidosis III-D: Pali kuchepa kwa enzyme N-acetylglycosamine-6-sulfatase (GNS).

Kuzindikira kwa Sanfilippo Syndrome kumapangidwa potengera kuwunika kwa zomwe wodwalayo adapeza komanso zotsatira za mayeso a labotale. Kawirikawiri amalimbikitsidwa kuti ayese mkodzo kuti awone kuchuluka kwa shuga wamtambo wautali, kuyesa magazi kuti awone momwe ma enzyme amayendera komanso kuti awone mtundu wa matendawa, kuphatikiza pakuyesa kwa majini kuti azindikire kusintha kwa matendawa .

Momwe mankhwalawa amachitikira

Chithandizo cha Sanfilippo Syndrome cholinga chake ndi kuchepetsa zizindikilo, ndipo ndikofunikira kuchitidwa ndi gulu la anthu osiyanasiyana, ndiye kuti, wopangidwa ndi dokotala wa ana kapena wothandizira, neurologist, orthopedist, ophthalmologist, psychologist, Therapist Therapist ndi physiotherapist, mwachitsanzo, kale kuti mu matendawa zizindikiritso zikukula.

Matendawa akapangidwa kumayambiriro kwa matendawa, kupatsira mafuta m'mafupa kumatha kukhala ndi zotsatira zabwino. Kuphatikiza apo, koyambirira ndikotheka kupewa kuti zizindikiritso zama neurodegenerative ndi zomwe zimakhudzana ndi kutulutsa mawu ndikulankhula ndizovuta kwambiri, chifukwa chake ndikofunikira kukhala ndi ma physiotherapy ndi magawo azithandizo pantchito, mwachitsanzo.

Kuphatikiza apo, ndikofunikira kuti ngati pali mbiri ya banja kapena banjali ndi pachibale, tikulimbikitsidwa kuti upangiri wamtunduwu uchitike kuti muwone ngati mwana ali ndi matendawa. Chifukwa chake, ndizotheka kulangiza makolo za matendawa komanso momwe angathandizire mwanayo kukhala ndi moyo wabwinobwino. Mvetsetsani momwe upangiri wa majini umachitikira.