Kuyini i-gangliosidosis, izimpawu nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kwe-gangliosidosis

I-Gangliosidosis isifo esingajwayelekile sezakhi zofuzo esiboniswa ukwehla noma ukungabikho komsebenzi we-beta-galactosidase enzyme, obhekene nokuwohloka kwama-molecule ayinkimbinkimbi, okuholela ekuqongeleleni kwabo ebuchosheni nakwezinye izitho.

Lesi sifo sibucayi kakhulu uma sivela eminyakeni yokuqala yokuphila futhi ukuxilongwa kwenziwa ngokuya ngezimpawu nezimpawu ezethulwe ngumuntu, kanye nomphumela wezivivinyo ezibonisa umsebenzi we-enzyme ye-beta-galactosidase nobukhona kokushintshwa kwezakhi zofuzo kuhlobo lwe-GBL1, olubhekele ukulawula ukusebenza kwale enzyme.

Izimpawu eziyinhloko

Izimpawu ze-gangliosidosis ziyahlukahluka kuye ngeminyaka ezibonakala ngayo, kanti futhi lesi sifo sithathwa njengesincane uma izimpawu zivela phakathi kweminyaka engama-20 nengama-30 ubudala:

• Thayipha I noma i-infantile gangliosidosis: Izimpawu zivela ngaphambi kwezinyanga eziyisithupha ubudala futhi zibonakala ngokungasebenzi kahle kwesistimu yezinzwa, ukungezwa okuqhubekayo nobumpumputhe, ukuncipha kwemisipha, ukuzwela ngomsindo, ukukhulisa isibindi nobende, ukukhubazeka kwengqondo, ubuso obukhulu kanye nezinguquko zenhliziyo, ngokwesibonelo. Ngenxa yenani elikhulu lezimpawu ezingathuthukiswa, lolu hlobo lwe-gangliosidosis lubhekwa njengolubucayi kakhulu futhi isikhathi sokuphila siyiminyaka emi-2 kuya kwemi-3;
• Uhlobo lwe-Gangliosidosis II: Lolu hlobo lwe-gangliosidosis lungahlukaniswa njengelusana, sekwephuzile, lapho izimpawu zivela phakathi konyaka owodwa no-3, noma ingane, lapho zivela phakathi kweminyaka emithathu nengu-10. Izimpawu eziyinhloko zalolu hlobo lwe-gangliosidosis zibambezelekile noma zihlehlisiwe ukukhula kwezimoto nokukhula kwengqondo, i-atrophy yobuchopho kanye nezinguquko kumbono. Uhlobo lwe-Gangliosidosis II lubhekwa njengolukhuni ngokulinganisela futhi isikhathi sokuphila sihluka phakathi kweminyaka engu-5 nengu-10;
• Uhlobo lwe-Gangliosidosis II noma omdala: Izimpawu zingavela kusukela eminyakeni eyi-10, yize kuvame kakhulu ukuvela phakathi kweminyaka engama-20 nengama-30, futhi kubonakala ngokuqina kwemisipha ngokungazibandakanyi nezinguquko emathanjeni omgogodla, okungaholela ku-kyphosis noma i-scoliosis, ngokwesibonelo . Lolu hlobo lwe-gangliosidosis lubhekwa njengomnene, kepha ubukhulu bezimpawu bungahluka ngokuya ngezinga lomsebenzi we-enzyme beta-galactosidase.

I-Gangliosidosis yisifo se-autosomal recessive genetic, okungukuthi, ukuze umuntu aveze lesi sifo, kuyadingeka ukuthi abazali babo okungenani babe ngabathwali bohlobo olushintshiwe. Ngakho-ke, kunethuba elingu-25% lomuntu ozalwa nokuguquka kwezakhi zofuzo ku-GBL1 gene kanye no-50% womuntu ophethe ufuzo.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-gangliosidosis kwenziwa ngokuhlola izici zomtholampilo ezethulwe ngumuntu, njengobuso obukhulu, isibindi esikhulisiwe kanye nobende, ukubambezeleka kwengqondo nokushintsha okubukwayo, isibonelo, okuvame kakhulu ukuvela ezigabeni zokuqala zesifo.

Ngaphezu kwalokho, kwenziwa izivivinyo ukusiza ukuqinisekisa ukuxilongwa, njengezithombe zemithambo yegazi, ukubalwa kwegazi, lapho kutholakala khona ukutholakala kwama-lymphocyte ane-vacuoles, ukuhlolwa komchamo, lapho kutholakala khona ukuhlushwa okuphezulu kwama-oligosaccharides emchameni, kanye nezakhi zofuzo ukuhlolwa, okuhlose ukukhomba ukuguquka kwesimo okubhekene nalesi sifo.

Ukuxilongwa kungenziwa futhi ngesikhathi sokukhulelwa ngokuhlolwa kofuzo kusetshenziswa isampula ye-chorionic villus noma amaseli we-amniotic fluid. Uma lokhu kuhlolwa kutholakele, kubalulekile ukuthi umndeni uqondiswe mayelana nezimpawu ingane engaba nazo impilo yonke.

Ukwelashwa kwe-gangliosidosis

Ngenxa yemvamisa ephansi yalesi sifo, kuze kube manje alukho umuthi osungulwe kahle, onezimpawu ezilawulwayo, njengokudla okwanele, ukuqapha ukukhula, ukwelashwa kokukhuluma kanye ne-physiotherapy ukukhuthaza ukunyakaza nokukhuluma.

Ngaphezu kwalokho, kwenziwa ukuhlolwa kwamehlo ngezikhathi ezithile kanye nokuqapha ubungozi bokutheleleka nezifo zenhliziyo.