Zviratidzo zveSanfilippo Syndrome uye marapirwo anoitwa

Zvemukati

• Zviratidzo zveSanfilippo Syndrome
• Mhando dzeSanfilippo Syndrome
• Kurapwa kunoitwa sei

Sanfilippo Syndrome, inozivikanwawo se mucopolysaccharidosis mhando III kana MPS III, chirwere chemagetsi chinoratidzirwa nekudzikira kwekuita kana kusavapo kweiyo enzyme inokonzeresa chikamu chinoshatisa cheshuga cheni refu, heparan sulphate, ichikonzera chinhu ichi kuunganidzwa mumasero uye zvinoguma nezviratidzo zvetsinga, semuenzaniso.

Zviratidzo zveSanfilippo Syndrome zvishoma nezvishoma zvinoshanduka, uye zvinogona kutanga zvichionekwa kuburikidza nematambudziko mukufungisisa uye kunonoka kukura kwekutaura, semuenzaniso. Mune zviitiko zvemberi zvechirwere, panogona kuve nekuchinja kwepfungwa uye kurasikirwa kwemaonero, saka zvakakosha kuti chirwere ichi chionekwe mumatanho ayo ekutanga kudzivirira kutanga kwezviratidzo zvakakomba.

Zviratidzo zveSanfilippo Syndrome

Zviratidzo zveSanfilippo Syndrome zvinowanzoomera kuziva, nekuti zvinogona kuvhiringidzika nemamwe mamiriro, zvisinei ivo vanogona kuoneka muvana kubva pamakore maviri ezera uye vanosiyana zvichienderana nedanho rekukura kwechirwere, chikuru zviratidzo zviri:

• Kudzidza matambudziko;
• Zvakaoma kutaura;
• Kazhinji manyoka;
• Zvirwere zvinowanzoitika, kunyanya munzeve;
• Kusagadzikana;
• Kunetseka kurara;
• Hunyoro mapfupa akaremara;
• Bvudzi kukura kumusana uye kumeso kwevasikana;
• Dambudziko rekutarisa;
• Yakawedzera chiropa uye spleen.

Muzviitiko zvakanyanya, izvo zvinowanzoitika mukukura kwekuyaruka uye pakuva munhu mukuru, zviratidzo zvehunhu zvinopera zvishoma nezvishoma, zvisinei nekuda kwekuwanda kukuru kweheparan sulphate mumasero, zviratidzo zveeurodegenerative, senge kuora mwoyo, semuenzaniso, zvinogona kuoneka. kukanganiswa, zvichikonzera kurasikirwa kwemaonero uye kutaura, kudzikira kwehunyanzvi hwemota uye kurasikirwa kwechiyero.

Mhando dzeSanfilippo Syndrome

Sanfilippo Syndrome inogona kuiswa muzvikamu zvina zvakakura maererano neiyo enzyme isipo kana ine yakaderera chiitiko. Mhando huru dzeiyi syndrome ndeiyi:

• Tora A kana Mucopolysaccharidosis III-A: Iko kusavapo kana kuvapo kwechimiro chakashandurwa cheiyo enzyme heparan-N-sulfatase (SGSH), ichi chimiro chechirwere chiri kutariswa sechakanyanya uye chakanyanya;
• Type B kana Mucopolysaccharidosis III-B: Iko kushomeka kweiyo enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Type C kana Mucopolysaccharidosis III-C: Iko kushomeka kweiyo enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Tora D kana Mucopolysaccharidosis III-D: Iko kushomeka kweiyo enzyme N-acetylglycosamine-6-sulfatase (GNS).

Kuongororwa kweSanfilippo Syndrome kunoitwa zvichienderana nekuongororwa kwezviratidzo zvinoratidzwa nemurwere uye mhedzisiro yekuongororwa kwerabhoritari. Izvo zvinowanzokurudzirwa kuita weti bvunzo kuti uone kuwanda kweshuga-refu keteni, kuongororwa kweropa kutarisa mashandiro ema enzymes uye kutarisa mhando yechirwere, kuwedzera pakuongorora kwemajini kuitira kuti uone shanduko inokonzeresa chirwere .

Kurapwa kunoitwa sei

Kurapa kweSanfilippo Syndrome kunovavarira kudzikisira zviratidzo, uye zvakakosha kuti zviitwe nechikwata chakasiyana-siyana, ndiko kuti, chinoumbwa nachiremba wevana kana chiremba mukuru, chiremba wezveuropi, orthopedist, ophthalmologist, chiremba wepfungwa, mushandi wepabasa uye physiotherapist, semuenzaniso, kuti mune ino syndrome zviratidzo zviri kufambira mberi.

Kana chirwere ichi chikaitwa mumatanho ekutanga echirwere, kuiswa kwemongo wemapfupa kunogona kuva nemhedzisiro. Uye zvakare, mumatanho ekutanga zvinokwanisika kudzivirira kuti izvo zviratidzo zveeurodegenerative uye izvo zvine chekuita nekushomeka uye kutaura zvakakomba zvakanyanya, saka zvakakosha kuve nePhysotherapy uye zvikamu zvekurapa zvebasa, semuenzaniso.

Pamusoro pezvo, zvakakosha kuti kana paine nhoroondo yemhuri kana vaviri vacho vari hama, zvinokurudzirwa kuti kurairidzwa kwemajini kuitwe kuongorora njodzi yemwana yekuva nechirwere. Nekudaro, zvinokwanisika kuraira vabereki nezvechirwere uye nemabatiro aungaita mwana kuti ave nehupenyu hwakajairika. Hwisisa kuti magadzirirwo emajini anoitwa sei.