Mene ne cututtukan Kleefstra?

Ciwon Kleefstra shine cututtukan kwayar halitta sanadiyyar rashin daidaito a cikin kwayar halittaKoda a cikin mafi ƙarancin yanayi sauyin yanayi na iya faruwa. Wannan cuta na iya shafar yawancin sassan jiki da gabobin jiki, kamar su microcephaly, halayen fuskoki, hypotonia, ƙarancin hankali ko fasalin autism, a tsakanin sauran yanayi. Cuta ce mai saurin gaske wacce ta shafi yara ƙalilan a duniya, a zahiri, al'amuran sun wuce 200.

A yau, 17 ga Satumba, ana bikin Ranar Kiwon Lafiya ta Duniya ta Kleefstra Syndrome, cuta mai saurin gaske kuma wataƙila don wannan dalili, ba a san shi da yawa. Sanya wannan cutar a bayyane inganta rayuwar mutanen da ke fama da ita, shine babban makasudin bikin wannan rana. Saboda binciken cutar shine mabuɗin maganin wannan cuta, ba shi da magani kuma tare da rikitarwa mai rikitarwa na rayuwa.

Ciwon Kleefstra

Jikin jikin mutum ya hada da chromosomes nau'i-nau'i 23, 22 daga cikinsu suna da karfin jiki kuma guda biyu na jima'i na chromosomes. Kowane iyaye suna ba da gudummawar chromosome daga autosomal ɗinsu da ma'aurata, don haka yara, samu rabin chromosomes daga mahaifinsu rabin kuma daga uwarsu. Cutar Kleefstra tana faruwa ne sanadiyyar rashin al'ajabi a ɗayan ƙwayoyin chromosomes 46 da jiki ke ƙunshe da su.

Abubuwa biyu na rashin lafiya na iya faruwa a cikin chromosome da abin ya shafa, Mafi yawan lokuta wani sashi na kayan halittar gado na rasa. A cikin mafi yawan lokuta, wannan chromosome na iya fuskantar maye gurbi, kodayake ba shine mafi yawan lokuta ba. A hakikanin gaskiya, Kleefstra Syndrome ana kiranta da "9q subtelomeric deletion syndrome" saboda chromosome yana da sharewa (asarar kayan halittar gado). Tsananin cutar na iya zama daban a kowane yanayi, tunda yana da alaƙa da adadin ƙwayoyin halitta ko maye gurbi wanda chromosome ke fama da shi.

Mafi yawan fasali

Cutar Kleefstra na iya haifar da wasu alamomi ko halaye daban-daban, kodayake wasu daga cikinsu suna da yawa sosai, misali:

• Jinkiri ci gaba.
• Hali sosai fasali wanda ya taurare akan lokaci, kamar manyan girare, leɓɓa kaɗan masu kauri, babban harshe, fitarwa ko nakasawa a cikin muƙamuƙi ko microcephaly, da sauransu.
• Matsalar ilmantarwa.
• Hypotonia ko ƙananan ƙwayar tsoka, wanda ke sa jaririn ya bayyana da laushi, ba tare da ƙarfin tallafawa jikinsa ba.
• Seizures.
• Ciwon zuciya na haihuwa.
• Rashin halayyar mutum.
• Matsalolin al'aura, musamman game da yara.
• Rashin bacci.
• Rashin lafiyar ido, yawanci strabismus.
• Hankula fasali na rashin daidaito na rashin lafiya.

También akwai wasu ƙananan fasalulluka, kamar yadda:

• Kiba.
• Matsalar hakori.
• Abubuwa na musamman akan hannaye ko ƙafa, kamar gajerun yatsu, kafa mara kyau, da sauransu.
• Rashin lafiyar koda.
• Anal atresia, Wannan yana nufin cewa babu wata al'ada ta buɗe dubura.

Jiyya na Ciwon Cutar Kleefstra

Wannan cutar ba ta da magani, tunda canjin halittar ne ke samar da ita. Jiyya ga yara masu fama da cutar Kleefstra ya ƙunshi ƙungiya mai tarin yawa wacce zata dogara da halaye da buƙatun kowane yaro. Maganin ya kunshi kwararrun kwararru ne kan marasa lafiya wadanda ke da nakasa ta ilimin hankali, farfado da aikin yi, likitan kwantar da hankali, likitan kwantar da hankali ko kuma maganin hadewar jiki, da sauransu.

Bugu da kari, a cikin yanayin da akwai matsalolin koda, cututtukan zuciya da sauran matsaloli kamar ji, yaro zai zama kwararru sun kula da su a kowane ɗayan waɗannan yankuna. Sabili da haka, maganin na iya zama daban a kowane yanayi, tunda duk yara ba su da halaye iri ɗaya ko alamomin su. Yayin da yaro ya girma, sabbin alamu za su bayyana wanda dole ne a bi da shi yadda ya dace.

Kodayake mai haƙuri tare da Kleefstra Syndrome dole ne a ci gaba da bin likita har abada, ba cuta ba ce mai kisa. A takaice dai, ciwon kansa da kansa baya sanya rayuwar yaron cikin haɗari, amma wasu halayensa na iya zama da gaske a wasu lokuta, kamar yadda yake faruwa a cikin yara masu fama da cututtukan zuciya.