Ciwo mai lalacewa X

Ciwon Fragile X wani yanayi ne na kwayar halitta wanda ya shafi canje-canje a wani ɓangare na ch chromosome na X. Wannan shine mafi yawancin nau'ikan raunin hankali ga yara maza.

Ciwo mai lalacewa na X yana haifar da canji a cikin kwayar halitta da ake kira FMR1. Partananan ɓangare na lambar asalin an maimaita su sau da yawa a cikin wani yanki na X chromosome. Thearin maimaitawa, da alama yanayin zai iya faruwa.

Da FMR1 kwayar halitta tana sanya sunadarin da ake buƙata don kwakwalwarka tayi aiki daidai. Wani lahani a cikin kwayar halitta yana sa jikinka ya sami ƙarancin furotin, ko babu.

Samari da 'yan mata duk ana iya shafar su, amma saboda samari suna da chromosome guda daya, fadadawa daya na iya shafar su sosai. Kuna iya samun ciwo mai saurin lalacewa na X koda iyayenku basu dashi.

Tarihin iyali na cututtukan X mai raunin jiki, matsalolin ci gaba, ko nakasawar ilimi na iya kasancewa ba.

Matsalolin halayen da ke haɗuwa da cututtukan cututtuka na X sun haɗa da:

• Autism bakan cuta
• Jinkirta cikin rarrafe, tafiya, ko karkarwa
• Hannun hannu ko cizon hannu
• Hali mai raɗaɗi ko motsa rai
• Rashin hankali
• Jawabi da jinkirin yare
• Yanayin kauce wa hada ido

Alamomin jiki na iya haɗawa da:

• Flat ƙafa
• Jointsusoshin sassauƙa da ƙananan ƙwayar tsoka
• Girman girman jiki
• Babban goshi ko kunnuwa tare da shahararren muƙamuƙi
• Doguwar fuska
• Fata mai laushi

Wasu daga cikin waɗannan matsalolin suna nan yayin haihuwa, yayin da wasu kuma ba za su ci gaba ba sai bayan balaga.

'Yan uwan ​​da basu da maimaitawa a cikin FMR1 kwayar halitta ba ta da nakasa ta ilimi. Mata na iya samun damar yin al'ada ba tare da jinkiri ba ko wahalar yin ciki. Dukansu maza da mata na iya samun matsala ta rawar jiki da rashin daidaito.

Akwai alamun ƙananan alamun waje na cututtukan X a cikin jarirai. Wasu abubuwan da mai ba da kiwon lafiya na iya nema sun haɗa da:

• Babban zagayewar kai a cikin jarirai
• Rashin hankali
• Manyan maniyyi bayan fara balaga
• Bambance-bambance masu sauki a cikin siffofin fuska

A cikin mata, yawan jin kunya na iya zama kawai alamar cutar.

Gwajin kwayoyin halitta na iya tantance wannan cuta.

Babu takamaiman magani don raunin cutar ta X. Maimakon haka, an haɓaka horo da ilimi don taimakawa yaran da abin ya shafa su yi aiki a matakin da zai yiwu. Gwajin gwaji yana gudana (www.clinicaltrials.gov/) da kallon magunguna da yawa don magance ciwo mai raunin X.

Fraungiyar gasa ta Fragile X: fragilex.org/

Ta yaya mutum ya yi kyau ya dogara da yawan larurar hankali.

Rikitarwa sun bambanta, ya danganta da nau'in da tsananin alamun cutar. Suna iya haɗawa da:

• Sake kamuwa da cututtukan kunne a cikin yara
• Cutar kamawa

Ciwo mai lalacewa na X na iya zama sanadin rashin lafiya ko rikice-rikice masu alaƙa, kodayake ba duk yaran da ke da ciwo mai saurin lalacewa ke da waɗannan yanayin ba.

Bayar da shawara game da kwayar halitta na iya taimaka idan kuna da tarihin iyali na wannan cutar kuma kuna shirin yin ciki.

Ciwon Martin-Bell; Alamar alama ta X

Hunter JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 cuta. GeneReviews. 2012: 4. PMID: 20301558 pubmed.ncbi.nlm.nih.gov/20301558/. An sabunta Nuwamba 21, 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.