Ataxia - telangiectasia

Ataxia-telangiectasia cuta ce da ba a cika samun yara ba. Yana shafar kwakwalwa da sauran sassan jiki.

Ataxia yana nufin ƙungiyoyi marasa daidaituwa, kamar tafiya. Telangiectasias sun kara girman jijiyoyin jini (kalandar) wadanda ke kasa da saman fata. Telangiectasias sun bayyana kamar ƙananan, ja, jijiyoyin-gizo-gizo.

An gaji Ataxia-telangiectasia. Wannan yana nufin an wuce ta cikin iyalai. Yana da wani autosomal recessive hali. Duk iyaye dole ne su samar da kwafin wata kwayar halitta wacce ba ta aiki don yaron ya sami alamun cutar.

Cutar ta samo asali ne daga maye gurbi a cikin ATM kwayar halitta Wannan kwayar halitta tana ba da umarni don yin furotin wanda ke taimakawa sarrafa ƙimar da ƙwayoyin halitta ke girma da rarraba. Laifi a cikin wannan kwayar halitta na iya haifar da mutuwar ƙwayar ƙwayar ƙwayar cuta a cikin jiki, gami da ɓangaren ƙwaƙwalwar da ke taimakawa daidaita motsi.

Samari da 'yan mata duk abin ya shafa.

Kwayar cutar sun hada da:

• Rage daidaituwa tsakanin ƙungiyoyi (ataxia) a ƙarshen ƙuruciya wanda zai iya haɗawa da ataxic gait (cerebellar ataxia), saurin tafiya, rashin kwanciyar hankali
• Rage ci gaban hankali, jinkiri ko tsayawa bayan shekara 10 zuwa 12
• Jinkirta tafiya
• Canjin launin fatar da aka fallasa zuwa hasken rana
• Rashin launi na fata (kofi-tare da madara masu launuka-madara)
• Kara girman jijiyoyin jini a fatar hanci, kunnuwa, da kuma cikin gwiwar hannu da gwiwa
• Kara girman jijiyoyin jini a cikin fararen idanu
• Jerky ko motsin ido mara kyau (nystagmus) a ƙarshen cutar
• Rashin tsufa da wuri na gashi
• Kamawa
• Sensitivity to radiation, ciki har da x-rays
• Infectionsananan cututtuka na numfashi waɗanda ke ci gaba da dawowa (maimaitawa)

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki. Jarabawar na iya nuna alamun waɗannan masu zuwa:

• Tonsils, ƙwayoyin lymph, da baƙin ciki ƙasa da girman al'ada
• Rage ga hankulan zurfin jijiyoyi
• Jinkirta ko rashi na ci gaban jiki da jima'i
• Rashin ci gaba
• Fuska mai kama da fuska
• Yawan canza launin fata da canza launi

Yiwuwar gwaje-gwaje sun haɗa da:

• Alpha furotin
• B da T allon fuska
• Antigen na Carcinoembryonic
• Gwajin kwayar halitta don neman maye gurbi a cikin kwayar ATM
• Gwajin haƙuri na Glucose
• Magungunan immunoglobulin (IgE, IgA)
• X-haskoki don kallon girman glandon kumburin ciki

Babu takamaiman magani don ataxia-telangiectasia. Ana ba da magani ga wasu alamun bayyanar.

Ataxia Telangiectasia Ayyukan Yara: www.atcp.org

Gidauniyar Ataxia ta Kasa (NAF): ataxia.org

Mutuwar farko sananniya ce, amma tsawon rai ya bambanta.

Saboda mutanen da suke da wannan yanayin suna da matuƙar damuwa da radiation, bai kamata a taɓa ba su maganin warkarwa ba, kuma ba za a yi ramin da ba dole ba.

Matsaloli na iya haɗawa da:

• Ciwon daji, kamar su lymphoma
• Ciwon suga
• Kyphosis
• Ci gaban motsa jiki wanda ke haifar da amfani da keken hannu
• Scoliosis
• Mai tsanani, maimaita cututtukan huhu

Kirawo mai ba ku sabis idan yaronku ya kamu da alamun wannan cuta.

Ma'aurata da ke da tarihin iyali na wannan yanayin waɗanda suke la'akari da juna biyu na iya yin la'akari da shawarwarin kwayoyin halitta.

Iyayen ɗa da ke da wannan matsalar na iya samun increasedarin haɗarin cutar kansa. Yakamata su sami shawarwarin kwayoyin halitta da kuma karin binciken kansar.

Louis-Bar ciwo

• Antibodies
• Telangiectasia

Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews. 2016. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. An sabunta Oktoba 27, 2016. Samun damar Yuli 30, 2019.

Martin KL. Ciwon jijiyoyin jini.A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 669.

Varma R, Williams SD. Neurology. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Ilimin Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 16.