Isifo seTay-Sachs

Isifo se-Tay-Sachs sisifo esisongela ubomi senkqubo ye-luvo edluliselwe kwiintsapho.

Isifo se-Tay-Sachs senzeka xa umzimba uswele i-hexosaminidase A. Le yiprotein enceda ukwehlisa iqela leekhemikhali ezifumaneka kwizicwili zemithambo-luvo ezibizwa ngokuba zii-gangliosides. Ngaphandle kwale protein, ii-ganglioside, ngakumbi i-ganglioside GM2, zakha iiseli, zihlala iiseli zemithambo-luvo kwingqondo.

Isifo seTay-Sachs sibangelwa luhlobo lwesiphene kwi-chromosome 15. Xa bobabini abazali bephethe ufuzo lwe-Tay-Sachs olungalunganga, umntwana unamathuba angama-25% okuba nesi sifo. Umntwana kufuneka afumane iikopi ezimbini zemfuza ezineziphene, enye ivela kumzali ngamnye, ukuze agule. Ukuba kuphela ngumzali omnye ogqithisela isakhi esonakeleyo emntwaneni, umntwana ubizwa ngokuba ngumthwali. Abayi kugula, kodwa banokusidlulisela esi sifo ebantwaneni babo.

Nabani na onokuba ngumthwali kaTay-Sachs. Kodwa, esi sifo sixhaphake phakathi kwamaJuda aseAshkenazi. Inye kumalungu angama-27 abemi ithwala uhlobo lweTay-Sachs.

I-Tay-Sachs yahlulwe yangamantshontsho, ulutsha, kunye neefom zabantu abadala, kuxhomekeka kwiimpawu naxa beqala ukubonakala. Uninzi lwabantu abaneTay-Sachs banoluhlobo lweentsana. Kule fomu, ukonakala kwenzwa kuhlala kuqala ngelixa umntwana esesibelekweni. Iimpawu zihlala zivela xa umntwana eneenyanga ezi-3 ukuya kwezi-6 ubudala. Esi sifo sihlala siba sibi ngokukhawuleza okukhulu, kwaye umntwana uhlala esweleka eneminyaka eyi-4 okanye yesi-5.

Ukuqala kwexesha lesifo seTay-Sachs, esichaphazela abantu abadala, kunqabile kakhulu.

Iimpawu zinokubandakanya nayiphi na kwezi zinto zilandelayo:

• Izithulu
• Ukuncipha kwamehlo, ukungaboni
• Ukwehla kwethoni yezihlunu (ukuphulukana namandla emisipha), ukulahleka kwezakhono zemoto, ukukhubazeka
• Ukukhula kancinci kunye nokulibaziseka kwezakhono zengqondo nezentlalo
• Isifo sengqondo esixhalabisayo (ukulahleka kwengqondo)
• Ukwanda kokuphendula okothusayo
• Ukucaphuka
• Ukungakhathali
• Ukuxhuzula

Umboneleli wezempilo uya kuvavanya usana kwaye abuze malunga nembali yosapho lwakho. Iimvavanyo ezinokwenziwa zezi:

• Uvavanyo lwe-enzyme yegazi okanye izicwili zomzimba kumanqanaba ehexosaminidase
• Uvavanyo lwamehlo (ityhila indawo ebomvu ebomvu kwi-macula)

Akukho lunyango lwesifo seTay-Sachs ngokwalo, kuphela kweendlela zokwenza ukuba umntu akhululeke ngakumbi.

Uxinzelelo lokugula lunokuncitshiswa ngokujoyina amaqela enkxaso anamalungu abelana ngamava aqhelekileyo kunye neengxaki. La maqela alandelayo anokubonelela ngolwazi oluthe kratya malunga nesifo seTay-Sachs:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/tay-sachs-disease
• Umbutho weSizwe weTay-Sachs kunye noMbutho wezifo eziManyeneyo- www.ntsad.org
• Isalathiso seKhaya le-NLM yemfuzo - ghr.nlm.nih.gov/condition/tay-sachs-disease

Abantwana abanesi sifo baneempawu eziba mandundu ngokuhamba kwexesha. Bahlala besweleka kwiminyaka eyi-4 okanye yesi-5.

Iimpawu zivela ngexesha lokuqala kwiinyanga ezi-3 ukuya kwezi-10 zobomi kunye nenkqubela phambili yokuqina, ukuxhuzula, kunye nelahleko kuyo yonke intshukumo yokuzithandela.

Yiya kwigumbi likaxakeka okanye fowunela inombolo yongxamiseko yendawo (enje nge-911) ukuba:

• Umntwana wakho uxhuzule isizathu esingaziwayo
• Ukuhluthwa kwahlukile kokuxhuzula kwangaphambili
• Umntwana kunzima ukuphefumla
• Ukuhlutha kuhlala ngaphezu kwemizuzu emi-2 ukuya kwemi-3

Biza ixesha lokubonana nomboneleli wakho ukuba umntwana wakho unolunye utshintsho kwindlela yokuziphatha.

Akukho ndlela yaziwayo yokuthintela esi sifo. Ukuvavanywa kwemfuzo kunokufumanisa ukuba ungumphathi wofuzo kwesi sifo. Ukuba wena okanye iqabane lakho livela kubemi abasemngciphekweni, unokufuna ukufumana iingcebiso ngemfuzo ngaphambi kokuqala usapho.

Ukuba sele ukhulelwe, ukuvavanya i-amniotic fluid kunokufumanisa isifo se-Tay-Sachs esibelekweni.

I-GM2 gangliosidosis - iTay-Sachs; Isifo seLysosomal - isifo seTay-Sachs

• Inkqubo ye-nervous central kunye ne-peripheral system

Kwon JM. Ukuphazamiseka kwengqondo kwi-neurodeergenerative yobuntwana. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla we-20. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 599.

INussbaum RL, iMcInnes RR, uWillard HF. Imolekyuli, i-biochemical, kunye nesiseko sesifo sesifo. Ku: Nussbaum RL, McInnes RR, Willard HF, ii-eds. Thompson kunye no-Thompson Genetics kwiyeza. Ngomhla we-8. IPhiladelphia, PA: Elsevier; 2016: isahluko 12.

U-Wapner RJ, Dugoff L.Ukuxilongwa kwesifo sokuzalwa komntwana ngaphambi kokubeleka. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Isilivere RM, ii-eds. I-Creasy kunye neResnik's Maternal-Fetal Medicine: Imigaqo kunye nokuziqhelanisa. Ngomhla we-8. IPhiladelphia, PA: Elsevier; I-2019: isahluko 32.