Cov tsos mob ntawm Sanfilippo Syndrome thiab yuav kho tus mob li cas

Zoo Siab

• Cov tsos mob ntawm tus mob Sanfilippo Syndrome
• Hom mob Sanfilippo Syndrome
• Yuav kho tus mob li cas

Sanfilippo Syndrome, tseem hu ua mucopolysaccharidosis hom III lossis MPS III, yog cov kev mob caj ces ua rau cov xeeb ceem tsis txaus los yog tsis muaj lub enzyme ua lub luag haujlwm rau kev txo qis ib feem ntawm cov suab thaj ntev, heparan sulfate, ua rau cov khoom no muaj ntau ntxiv hauv cov hlwb thiab ua rau mob neurological, piv txwv.

Xws li cov tsos mob ntawm Sanfilippo Syndrome hloov zuj zus, thiab tuaj yeem pom thaum pib nyuaj los ntawm kev nyuaj siab thiab ncua kev hais lus, piv txwv. Hauv kev kis tus kab mob siab dua, tej zaum yuav muaj kev hloov pauv ntawm lub hlwb thiab qhov muag pom tsis tau, yog li nws yog qhov tseem ceeb uas yuav kuaj pom tus kab mob no thaum ntxov los tiv thaiv qhov pib ntawm cov tsos mob hnyav.

Cov tsos mob ntawm tus mob Sanfilippo Syndrome

Cov tsos mob ntawm Sanfilippo Cov tsos mob feem ntau nyuaj rau kev txheeb xyuas, vim tias lawv tuaj yeem tsis meej pem nrog lwm cov xwm txheej, txawm li cas los xij lawv tuaj yeem tshwm rau cov menyuam yaus txij li 2 xyoos thiab txawv raws theem ntawm kev txhim kho tus kabmob, cov tsos mob tseem ceeb tau:

• Kawm nyuaj;
• Nyuaj hais lus;
• Ntau zaus mob raws plab;
• Cov kab mob kis, feem ntau hauv pob ntseg;
• Hyperactivity;
• Nyuaj pw tsaug zog;
• Cov pob txha me;
• Cov plaub hau loj hlob ntawm cov menyuam ntxhais nraub qaum thiab ntsej muag;
• Nyuaj tsis yooj yim lag luam;
• Tsaus daim siab thiab tus po.

Hauv cov mob hnyav dua, uas feem ntau tshwm sim thaum tiav hluas thiab deev ntxov, tus cwj pwm kev coj tus kheej maj mam ploj, txawm li cas los xij vim muaj ntau qhov ntau ntawm heparan sulfate hauv cov hlwb, cov cim neurodegenerative, xws li dementia, piv txwv, tej zaum yuav tshwm sim lwm yam kabmob yuav kev nyuaj siab, ua rau tsis pom kev thiab hais lus, tsis paub lub cev muaj zog thiab poob ntawm kev tshuav.

Hom mob Sanfilippo Syndrome

Sanfilippo Syndrome tuaj yeem muab cais ua 4 hom loj raws li cov enzyme uas tsis muaj los yog tsis muaj kev ua haujlwm tsawg. Cov hom mob tseem ceeb no yog:

• Hom A lossis Mucopolysaccharidosis III-A: Muaj ib qho qhaj lossis qhov tshwm sim ntawm daim ntawv hloov pauv ntawm enzyme heparan-N-sulfatase (SGSH), daim ntawv ntawm tus kabmob no tau raug suav tias yog feem ntau hnyav thiab feem ntau tshwm sim;
• Hom B lossis Mucopolysaccharidosis III-B: Muaj ib qho tsis txaus ntawm cov enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Hom C lossis Mucopolysaccharidosis III-C: Muaj ib qho tsis txaus ntawm cov enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Hom D lossis Mucopolysaccharidosis III-D: Muaj ib qho tsis txaus ntawm cov enzyme N-acetylglycosamine-6-sulfatase (GNS).

Kev kuaj mob ntawm Sanfilippo Syndrome yog ua raws li kev ntsuam xyuas ntawm cov tsos mob uas qhia los ntawm tus neeg mob thiab tshwm sim ntawm kev sim tshuaj. Feem ntau pom zoo tso zis mus kuaj saib cov ntshav muaj suab thaj ntev ntev, kuaj ntshav mus soj ntsuam cov kev ua ub no thiab mus soj ntsuam hom mob, ntxiv rau kev tshuaj ntsuam caj ces kom txheeb xyuas kev hloov pauv lub luag haujlwm rau tus kab mob. Cov.

Yuav kho tus mob li cas

Kev Kho Tus Mob Sanfilippo Lub Homphiaj txhawm rau txo cov kev mob tshwm sim, thiab nws yog qhov tseem ceeb uas yuav tsum tau ua los ntawm pab pawg ntau tus neeg, uas yog, suav nrog kws kho mob lossis kws kho mob tshwj xeeb, kws kho mob hlwb, orthopedist, ophthalmologist, tus kws kho mob hlwb, kws tshaj lij txoj haujlwm thiab kws kho mob, piv txwv li, twb tias hauv cov tsos mob no cov tsos mob tau zoo zuj zus.

Thaum kuaj pom tau thaum ntxov ntawm tus kab mob, hloov hlwb pob txha tuaj yeem muaj cov txiaj ntsig zoo. Tsis tas li ntawd, nyob rau theem thaum ntxov nws muaj peev xwm zam kom tsis txhob muaj cov tsos mob neurodegenerative thiab cov uas cuam tshuam nrog kev ua kom lub siab thiab hais lus tau mob hnyav heev, yog li nws tseem ceeb uas yuav tsum tau muaj kev tawm dag zog thiab kho lub cev, piv txwv.

Ib qho ntxiv, nws yog ib qho tseem ceeb yog tias muaj keeb kwm tsev neeg los yog ob niam txiv yog neeg txheeb ze, nws raug nquahu kom muaj kev qhuab qhia caj ces kom kuaj xyuas tus menyuam qhov muaj feem yuav muaj tus mob. Yog li, nws muaj peev xwm los qhia niam txiv txog kab mob thiab yuav ua li cas pab tus menyuam kom muaj lub neej zoo. Nkag siab txog kev pab tswv yim caj ces ua li cas.