Isifo se-Tay-Sachs

Isifo i-Tay-Sachs yisifo esisongela impilo sesistimu yezinzwa esidluliswa yimindeni.

Isifo i-Tay-Sachs senzeka lapho umzimba untula i-hexosaminidase A. Le yiprotheni esiza ukudiliza iqembu lamakhemikhali atholakala ezicutshini zemizwa ezibizwa ngama-gangliosides. Ngaphandle kwale protein, ama-ganglioside, ikakhulukazi i-ganglioside GM2, akha amangqamuzana, imvamisa amaseli ezinzwa ebuchosheni.

Isifo se-Tay-Sachs sidalwa yisakhi esine-chromosome 15. Lapho bobabili abazali bephethe ufuzo lwe-Tay-Sachs olungaphelele, ingane inamathuba angama-25% okuba nesifo. Ingane kufanele ithole amakhophi amabili wesakhi esinephutha, elilodwa kumzali ngamunye, ukuze ligule. Uma kungumzali oyedwa kuphela odlulisela ufuzo olungalungile enganeni, ingane ibizwa ngokuthi umphathi. Ngeke bagule, kepha bangadlulisela lesi sifo ezinganeni zabo.

Noma ngubani angaba ngumthwali kaTay-Sachs. Kepha, lesi sifo sivame kakhulu kubantu base-Ashkenazi abangamaJuda. Ilungu elilodwa kwamalungu angama-27 labantu lithwala isakhi sofuzo iTay-Sachs.

I-Tay-Sachs ihlukaniswe yaba yizinhlobo zezingane, ezentsha nezabantu abadala, kuya ngezimpawu nokuthi zaqala nini ukuvela. Iningi labantu abaneTay-Sachs banefomu lezinsana. Kuleli fomu, ukulimala kwemizwa kuvame ukuqala lapho ingane isesibelethweni. Izimpawu zivame ukuvela lapho ingane inezinyanga ezi-3 kuya kwezi-6 ubudala. Lesi sifo sijwayele ukuba sibi ngokushesha okukhulu, futhi ingane ivame ukufa lapho isineminyaka engu-4 noma engu-5.

Isifo seTay-Sachs esenzeka ngemuva kwesikhathi, esithinta abantu abadala, siyivelakancane.

Izimpawu zingafaka noma yikuphi okulandelayo:

• Izithulu
• Ukuncipha kwamehlo, ukungaboni
• Ukwehla kwethoni yemisipha (ukulahleka kwamandla emisipha), ukulahleka kwamakhono ezimoto, ukukhubazeka
• Ukukhula kancane kanye nokubambezeleka kwamakhono engqondo nawomphakathi
• I-dementia (ukulahleka kokusebenza kobuchopho)
• Ukwanda kokuphendula okwethusayo
• Ukuthukuthela
• Ukungabi nalutho
• Ukuquleka

Umhlinzeki wezempilo uzohlola ingane abuze ngomlando womndeni wakho. Ukuhlolwa okungenziwa yile:

• Ukuhlolwa kwe-enzyme yegazi noma izicubu zomzimba kumazinga we-hexosaminidase
• Ukuhlolwa kwamehlo (kuveza indawo ebomvu ebomvu ku-macula)

Akukho ukwelashwa kwesifo seTay-Sachs uqobo, kuphela izindlela zokwenza umuntu akhululeke ngokwengeziwe.

Ingcindezi yokugula ingancishiswa ngokujoyina amaqembu okusekela amalungu awo abelana ngokuhlangenwe nakho okuvamile nezinkinga. Amaqembu alandelayo anganikeza imininingwane eminingi ngesifo seTay-Sachs:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/tay-sachs-disease
• Inhlangano Kazwelonke Yezifo ze-Tay-Sachs kanye ne-Allied - www.ntsad.org
• Isethenjwa Sasekhaya seNLM Genetics - ghr.nlm.nih.gov/condition/tay-sachs-disease

Izingane ezinalesi sifo zinezimpawu eziya ziba zimbi ngokuhamba kwesikhathi. Imvamisa bafa beneminyaka engu-4 noma engu-5.

Izimpawu zivela ezinyangeni zokuqala ezi-3 kuye kwezingu-10 zokuphila futhi ziqhubekela phambili ekuphakameni, ekuhlangeni, nasekulahlekelweni yiyo yonke iminyakazo yokuzithandela.

Iya egumbini lezimo eziphuthumayo noma ushayele inombolo yendawo ephuthumayo (njenge-911) uma:

• Ingane yakho iqulekile ngesizathu esingaziwa
• Ukubanjwa kuhlukile kokuquleka kwangaphambilini
• Ingane inenkinga yokuphefumula
• Ukubanjwa kuthatha isikhathi eside kunemizuzu emi-2 kuya kwemi-3

Shayela i-aphoyintimenti nomhlinzeki wakho uma ingane yakho inolunye ushintsho olubonakalayo lokuziphatha.

Ayikho indlela eyaziwayo yokuvimbela lesi sifo. Ukuhlolwa kofuzo kungathola uma ngabe ungumphathi wesakhi sofuzo salesi sifo. Uma wena noma umlingani wakho uvela kubantu abasengozini, ungafisa ukuthola ukwelulekwa ngezakhi zofuzo ngaphambi kokuqala umndeni.

Uma usuvele ukhulelwe, ukuhlola i-amniotic fluid kungahlola isifo seTay-Sachs esibelethweni.

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

• Isistimu yezinzwa emaphakathi nesistimu yezinzwa ezungezayo

I-Kwon JM. Izinkinga ze-Neurodegenerative zobuntwana. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ama-eds. Incwadi kaNelson Yezingane. Umhla ka-20. IPhiladelphia, PA: Elsevier; 2016: isahluko 599.

UNussbaum RL, McInnes RR, uWillard HF. Isisekelo samangqamuzana, samakhemikhali, kanye neselula sesifo sofuzo. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. Thompson noThompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 12.

U-Wapner RJ, Dugoff L. Ukuxilongwa ngaphambi kokubeletha kwezifo zokuzalwa. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, abahleli. ICreasy neResnik's Maternal-Fetal Medicine: Izimiso kanye Nokuzijwayeza. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2019: isahluko 32.