Ciwan Angelman

Cutar Angelman (AS) wani yanayi ne na kwayar halitta wanda ke haifar da matsala game da yadda jikin yaro da kwakwalwa ke haɓaka. Ciwon yana nan tun daga haihuwa (na haihuwa). Koyaya, galibi ba a gano shi sai kusan watanni 6 zuwa 12 da haihuwa. Wannan shine lokacin da aka fara lura da matsalolin ci gaba a mafi yawan lokuta.

Wannan yanayin ya shafi kwayar halitta UBE3A.

Yawancin kwayoyin halitta suna zuwa biyu-biyu. Yara suna karɓar ɗayan daga kowane mahaifa. A mafi yawan lokuta, dukkanin kwayoyin halittar suna aiki. Wannan yana nufin bayanai daga dukkanin kwayoyin halitta suna amfani da kwayoyin halitta. Tare da UBE3A kwayar halitta, duka iyayen sun ba da ita, amma kwayar halittar da mahaifiya ta samu ne kawai ke aiki.

Cutar ta Angelman galibi tana faruwa ne saboda UBE3A wuce daga uwa ba ya aiki yadda ya kamata. A wasu lokuta, ana haifar da AS lokacin da kwafi biyu na UBE3A kwayar halitta ta fito daga uba, kuma babu mai zuwa daga uwa. Wannan yana nufin babu kwayar halitta da ke aiki, saboda duka sun fito daga uba.

A cikin jarirai da jarirai:

• Rashin ƙwayar tsoka (floppiness)
• Matsalar ciyarwa
• Bwannafi (acid reflux)
• Girgizar hannu da motsi

A cikin yara da yara:

• Mara ƙarfi ko tafiya mai ban tsoro
• Kadan ko babu magana
• Mai farin ciki, mai kyawun hali
• Dariya da murmushi sau da yawa
• Haske mai haske, fata, da launin ido idan aka kwatanta da sauran dangi
• Sizeananan girman kai idan aka kwatanta da jiki, ya daidaita bayan kansa
• Mai tsananin nakasa ilimi
• Kamawa
• Yawan motsi na hannaye da gabbai
• Matsalar bacci
• Harshen turawa, nutsarwa
• Yanda ake tauna abinci da baki
• Idanun giciye
• Yin tafiya tare da ɗaga hannuwan hannu

Yawancin yara masu wannan matsalar ba sa nuna alamun har sai kusan watanni 6 zuwa 12. Wannan shine lokacin da iyaye zasu iya lura da jinkiri ga ci gaban ɗansu, kamar su rarrafe ko fara magana.

Yaran da ke tsakanin shekara 2 zuwa 5 sun fara nuna alamun bayyanar kamar tafiya mai ban tsoro, halin farin ciki, dariya sau da yawa, ba magana, da matsalolin ilimi.

Gwajin kwayoyin halitta na iya gano cutar ta Angelman. Wadannan gwaje-gwajen suna neman:

• Bacewar chromosomes
• Gwajin DNA don ganin idan kwafin kwayar halitta daga iyayen duka suna cikin aiki ko aiki
• Canjin kwayar halitta a kwafin uwar ta kwayar halitta

Sauran gwaje-gwaje na iya haɗawa da:

• Brain MRI
• EEG
  

Babu magani don cutar ta Angelman. Jiyya na taimakawa wajen sarrafa matsalolin kiwon lafiya da ci gaban da yanayin ya haifar.

• Magungunan anticonvulsant suna taimakawa wajen magance kamuwa
• Halayyar ɗabi'a na taimaka wajan sarrafa hauka, matsalolin bacci, da matsalolin ci gaba
• Sana'a da maganin magana suna sarrafa matsalolin magana da koyar da dabarun rayuwa
• Jiki na jiki yana taimakawa tare da tafiya da matsalolin motsi
  

Manungiyar Angelman Syndrome: www.angelman.org

AngelmanUK: www.angelmanuk.org

Mutanen da ke da AS suna rayuwa kusa da rayuwar yau da kullun. Dayawa suna da abota kuma suna mu'amala da jama'a. Jiyya na taimakawa inganta aiki. Mutanen da ke da AS ba za su iya rayuwa da kansu ba. Koyaya, ƙila za su iya koyon wasu ayyuka kuma su zauna tare da wasu a cikin tsarin kulawa.

Matsaloli na iya haɗawa da:

• Kama mai tsanani
• Gastroesophageal reflux (ƙwanna zuciya)
• Scoliosis (mai lankwasa kashin baya)
• Raunin haɗari saboda ƙungiyoyi marasa ƙarfi

Kira mai ba da sabis na kiwon lafiya idan ɗanka yana da alamun alamun wannan yanayin.

Babu wata hanya don hana cutar ta Angelman. Idan kuna da ɗa tare da AS ko tarihin iyali na yanayin, kuna so kuyi magana da mai ba ku kafin yin ciki.

Dagli AI, Mueller J, Williams CA. Ciwan Angelman. GeneReviews. Seattle, WA: Jami'ar Washington; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. An sabunta Disamba 27, 2017. Iso ga Agusta 1, 2019.

Kumar V, Abbas AK, Aster JC. Kwayoyin halitta da cututtukan yara. A cikin: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10 ed. Philadelphia, PA: Elsevier; 2018: babi na 7.

Madan-Khetarpal S, Arnold G. Rashin lafiyar kwayoyin halitta da yanayin dysmorphic. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Lafiyar Jiki na Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 1.

Nussbaum RL, McInnes RR, Willard HF. Kwayar halittar chromosomal da asalin halittar cuta: rikicewar yanayin rashin daidaito da kuma chromosomes na jima'i. A cikin: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics a Magunguna. 8th ed. Philadelphia, PA: Elsevier; 2016: babi na 6.