Matenda a Tay-Sachs

Matenda a Tay-Sachs ndiwopseza moyo wamanjenje omwe amadutsa m'mabanja.

Matenda a Tay-Sachs amapezeka thupi likasowa hexosaminidase A. Ili ndi puloteni yomwe imathandizira kuwononga gulu la mankhwala omwe amapezeka muminyewa yotchedwa gangliosides. Popanda puloteni iyi, ma gangliosides, makamaka ganglioside GM2, amakhala m'maselo, nthawi zambiri maselo amitsempha muubongo.

Matenda a Tay-Sachs amayamba chifukwa cha jini lopunduka pa chromosome 15. Makolo onse atakhala ndi vuto la Tay-Sachs, mwana amakhala ndi mwayi woti atenge matendawa 25%. Mwana ayenera kulandira makope awiri a jini lopunduka, limodzi kuchokera kwa kholo lililonse, kuti adwale. Ngati m'modzi yekha ndi kholo limapereka mwana wolakwayo, mwanayo amatchedwa wonyamula. Sadzadwala, koma amatha kupereka matendawa kwa ana awo omwe.

Aliyense akhoza kukhala wonyamula a Tay-Sachs. Koma, matendawa amapezeka kwambiri pakati pa Ayuda achi Ashkenazi. M'modzi mwa anthu 27 aliwonse amakhala ndi mtundu wa Tay-Sachs.

Tay-Sachs agawika m'mafomu aana, achichepere, ndi achikulire, kutengera zizindikilo komanso nthawi yoyamba kuwonekera. Anthu ambiri omwe ali ndi Tay-Sachs ali ndi mawonekedwe achichepere. Momwemonso, kuwonongeka kwa mitsempha kumayambira mwana akadali m'mimba. Zizindikiro nthawi zambiri zimawoneka mwana akakhala miyezi 3 mpaka 6. Matendawa amangokulirakulirabe, ndipo mwanayo amamwalira ali ndi zaka 4 kapena 5.

Matenda a Tay-Sachs omwe amabwera mochedwa, omwe amakhudza akulu, ndi osowa kwambiri.

Zizindikiro zimatha kuphatikizira izi:

• Kugontha
• Kutsika kwa maso, khungu
• Kuchepetsa kuchepa kwa minofu (kuchepa kwa mphamvu yaminyewa), kutaya kwamphamvu zamagalimoto, ziwalo
• Kukula pang'onopang'ono ndikuchedwetsa luso lamaganizidwe ndi chikhalidwe
• Dementia (kutayika kwa ubongo)
• Kuchulukanso kuchitapo kanthu
• Kukwiya
• Mantha
• Kugwidwa

Wopereka chithandizo chamankhwala awunika mwanayo ndikufunsa za mbiri ya banja lanu. Mayeso omwe angachitike ndi awa:

• Kuyesa ma enzyme kwamagazi kapena minofu ya thupi ya milingo ya hexosaminidase
• Kuyesa kwamaso (kuwulula malo ofiira ofiira mu macula)

Palibe chithandizo cha matenda a Tay-Sachs omwewo, njira zokhazokha zokuthandizani kuti munthu akhale womasuka.

Kupsinjika kwa matenda kumatha kuchepetsedwa polowa nawo magulu othandizira omwe mamembala awo amagawana zomwe akumana nazo pamavuto. Magulu otsatirawa atha kupereka zambiri za matenda a Tay-Sachs:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/tay-sachs-disease
• Bungwe la National Tay-Sachs and Allied Diseases Association - www.ntsad.org
• Buku Lofotokozera za NLM Genetics - ghr.nlm.nih.gov/condition/tay-sachs-disease

Ana omwe ali ndi matendawa amakhala ndi zizindikilo zomwe zimaipiraipira pakapita nthawi. Nthawi zambiri amamwalira ali ndi zaka 4 kapena 5.

Zizindikiro zimawoneka m'miyezi itatu yoyamba mpaka 10 ya moyo ndipo zimayamba kuchepa, kugwa, ndi kutaya mayendedwe onse mwaufulu.

Pitani kuchipinda chodzidzimutsa kapena itanani nambala yadzidzidzi yakomweko (monga 911) ngati:

• Mwana wanu wagwidwa ndi chifukwa chosadziwika
• Kulanda ndikosiyana ndi kulanda koyambirira
• Mwanayo amavutika kupuma
• Kulanda kumatenga nthawi yayitali kuposa mphindi ziwiri kapena zitatu

Funsani nthawi yokumana ndi omwe amakupatsani ngati mwana wanu ali ndi machitidwe ena owoneka bwino.

Palibe njira yodziwika yothetsera vutoli. Kuyesedwa kwa majini kumatha kuzindikira ngati muli wonyamula jini ya vutoli. Ngati inu kapena mnzanu muli ochokera pachiwopsezo, mungafune kufunsa upangiri wa majini musanayambe banja.

Ngati muli ndi pakati kale, kuyesa amniotic fluid kumatha kudziwa matenda a Tay-Sachs m'mimba.

GM2 gangliosidosis - Tay-Sachs; Matenda osungira Lysosomal - Matenda a Tay-Sachs

• Central dongosolo lamanjenje ndi zotumphukira zamanjenje

Kwon JM. Matenda a Neurodegenerative aubwana. Mu: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, olemba. Nelson Textbook of Pediatrics. Wolemba 20th. Philadelphia, PA: Elsevier; 2016: chap 599.

Nussbaum RL, McInnes RR, Willard HF (Adasankhidwa) Maselo, zamankhwala am'magazi, komanso ma cell a matenda amtundu. Mu: Nussbaum RL, McInnes RR, Willard HF, olemba. Thompson ndi Thompson Genetics mu Mankhwala. 8th ed. Philadelphia, PA: Elsevier; 2016: chap 12.

Wapner RJ, Dugoff L. Kuzindikira matenda asanakwane obadwa nawo. Mu: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, olemba. Creasy ndi Resnik's Maternal-Fetal Medicine: Mfundo ndi Kuchita. 8th ed. Philadelphia, PA: Elsevier; 2019: mutu 32.