Tay-Sachs cuta

Tay-Sachs cuta cuta ce mai barazanar rai ga tsarin juyayi wanda ya gudana ta cikin dangi.

Tay-Sachs cuta na faruwa ne lokacin da jiki bashi da hexosaminidase A. Wannan furotin ne wanda ke taimakawa ruguza rukunin sunadarai da ake samu a cikin jijiya wanda ake kira gangliosides. Ba tare da wannan furotin ba, gangliosides, musamman ganglioside GM2, suna haɓaka cikin ƙwayoyin cuta, galibi ƙwayoyin jijiyoyi a cikin kwakwalwa.

Ana haifar da cutar ta Tay-Sachs ta wata cuta ta kwayar cuta ta chromosome 15. Lokacin da iyayen suka dauki kwayar cutar ta Tay-Sachs, yaro yana da damar 25% na cutar. Yaron dole ne ya karɓi kofe biyu na kwayar halittar da ta lalace, ɗayan daga kowane mahaifa, don yin rashin lafiya. Idan mahaifi daya ne kawai ya ba da cikakkiyar kwayar halittar ga yaro, ana kiran yaron ɗauka. Ba za su yi rashin lafiya ba, amma suna iya yada cutar ga 'ya'yansu.

Kowa na iya zama jigilar Tay-Sachs. Amma, cutar ta fi yawanci a tsakanin yahudawan Ashkenazi. Inaya daga cikin kowane memba na 27 na ɗauke da kwayar Tay-Sachs.

An raba Tay-Sachs zuwa sifofin yara, yara, da na manya, ya danganta da alamun alamun da lokacin da suka fara bayyana. Yawancin mutane tare da Tay-Sachs suna da siffar yara. A wannan yanayin, lalacewar jijiyar yakan fara ne yayin da jaririn yake cikin mahaifar. Kwayar cutar galibi tana bayyana ne lokacin da yaro ya kai watanni 3 zuwa 6. Cutar na daɗa yin muni da sauri, kuma yaron yakan mutu ne da shekara 4 ko 5.

Cutar farkon-farkon cutar Tay-Sachs, wacce ke shafar manya, ba safai ake samun irinta ba.

Kwayar cutar na iya haɗawa da ɗayan masu zuwa:

• Kurma
• Rage ganin ido, makanta
• Rage sautin tsoka (asarar karfin tsoka), asarar kwarewar motsa jiki, inna
• Ci gaban jinkiri da jinkirin ƙwarewar tunani da zamantakewa
• Dementia (asarar aikin kwakwalwa)
• Reactionara ƙarfin damuwa
• Rashin fushi
• Rashin aiki
• Kamawa

Mai ba da lafiyar zai bincika jaririn kuma ya yi tambaya game da tarihin danginku. Gwajin da za'a iya yi shine:

• Gwajin enzyme na jini ko jikin jiki don matakan hexosaminidase
• Gwajin ido (ya nuna alamar jan-ja a cikin macula)

Babu magani don cutar ta Tay-Sachs da kanta, kawai hanyoyin da za su sa mutumin ya sami kwanciyar hankali.

Damuwar rashin lafiya na iya sauƙaƙawa ta hanyar shiga ƙungiyoyin tallafi waɗanda membobinsu ke raba abubuwan gogewa da matsaloli iri ɗaya. Groupsungiyoyin masu zuwa na iya ba da ƙarin bayani game da cutar ta Tay-Sachs:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/tay-sachs-disease
• Tayungiyar Tay-Sachs da Diseungiyar Cututtukan Kawancen - www.ntsad.org
• NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/tay-sachs-disease

Yaran da ke da wannan cutar suna da alamomin da ke taɓarɓarewa a kan lokaci. Yawanci suna mutuwa da shekaru 4 ko 5.

Kwayar cututtukan cututtuka suna bayyana yayin farkon watanni 3 zuwa 10 na rayuwa da ci gaba zuwa raɗaɗi, kamuwa, da asarar duk wata ƙungiya ta son rai.

Jeka dakin gaggawa ko kira lambar gaggawa ta gida (kamar 911) idan:

• Childanka ya kamu da cutar sanadin abin da ba a sani ba
• Kamawar ta sha bamban da kamun da ta gabata
• Yaron yana da wahalar numfashi
• Kamawar ta fi minti biyu zuwa 3

Kira don alƙawari tare da mai ba da sabis idan ɗanka yana da wasu sanannun canje-canje na hali.

Babu wata hanyar da aka sani don hana wannan cuta. Gwajin kwayar halitta na iya gano idan kai mai ɗaukar kwayar cutar ne don wannan matsalar. Idan ku ko abokiyar zaman ku ta kasance daga cikin masu haɗarin haɗari, kuna so ku nemi shawarar ƙwayoyin halitta kafin ku fara iyali.

Idan kun riga kun yi ciki, gwajin ruwan mahaifa na iya tantance cutar ta Tay-Sachs a cikin mahaifar.

GM2 gangliosidosis - Tay-Sachs; Cutar Lysosomal cuta - Tay-Sachs cuta

• Tsarin juyayi na tsakiya da tsarin juyayi na gefe

Kwon JM. Cutar cututtukan Neurodegenerative na yara. A cikin: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Littafin koyar da ilimin yara. 20th ed. Philadelphia, PA: Elsevier; 2016: babi 599.

Nussbaum RL, McInnes RR, Willard HF. Kwayar halitta, biochemical, da salon salula na cutar kwayoyin cuta. A cikin: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson da Thompson Genetics a Magunguna. 8th ed. Philadelphia, PA: Elsevier; 2016: sura 12.

Wapner RJ, Dugoff L. Ciwon haifuwa na cututtukan ciki. A cikin: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy da Resnik na Maganin Uwar-Gida: Ka'idoji da Ayyuka. 8th ed. Philadelphia, PA: Elsevier; 2019: sura 32.