Shin ka san da cutar Sandhoff? Bari mu yi magana game da wannan yanayi mai wuya!

Shin kun taɓa jin labarin wata cuta mai ban mamaki da ba kasafai ake samunta ba? Wani lokaci jarirai suna haihuwa lafiya, amma bayan 'yan watanni, suna samun wasu canje-canje a cikin ci gabansu. A yau za mu yi magana game da wata irin wannan cuta ta kwayoyin halitta mai wuya amma mai tsanani da ake kira cutar Sandhoff . Wannan sunan na iya zama sabon abu a gare ku. Amma yana da matukar muhimmanci ku sani game da shi, musamman idan wani a cikin iyalanmu yana da wannan yanayin.

Menene Cutar Sandhoff?

A taƙaice dai, cutar Sandhoff cuta ce ta kwayoyin halitta da ba kasafai ake samunta ba wadda ke lalata ƙwayoyin jijiyoyi a cikin kwakwalwarmu da kuma ƙashin bayanmu . Yawanci tana bayyana ne tun tana ƙarama. Wato, jaririn yana fara nuna alamun cutar cikin watanni kaɗan bayan haihuwa. Duk da haka, ba kasafai ake samun wannan cutar a lokacin ƙuruciya ko kuma a lokacin girma ba.

Wannan, a takaice, 'cutar ajiyar lysosomal' ce. Yanzu za ku iya mamakin menene waɗannan lysosomes. Ka yi tunanin kowace ƙwayar halitta a jikinmu tana da ƙaramin 'cibiyar kula da shara' a ciki. Muna kiran waɗannan 'lysosomes' . A cikin waɗannan lysosomes akwai nau'ikan enzymes da yawa. Aikin waɗannan enzymes shine su wargaza, su narke, da kuma tsaftace nau'ikan ƙwayoyin halitta daban-daban da ke shiga tantanin halitta.

Mutane masu fama da cutar Sandhoff ba sa samar da isasshen enzyme na musamman da ake kira beta-hexosaminidase . Ba tare da wannan enzyme ba, wasu nau'ikan kitse, da ake kira lipids , suna fara taruwa a cikin ƙwayoyin halitta. Kamar shara ce da ba za a iya cirewa ba. Idan wannan kitsen ya taru da yawa, yana lalata kwakwalwa da sauran tsarin jiki. Abin takaici, wannan yanayin yakan haifar da mutuwa a lokacin ƙuruciya.

Ana kuma san cutar Sandhoff a matsayin wata cuta mai tsanani ta cutar Tay-Sachs, wata cuta ta lysosomal.

Yaya cutar Sandhoff ba kasafai take faruwa ba?

Wannan cuta ce da ba kasafai ake samunta ba . Ana cewa mutum ɗaya ne kawai ke kamuwa da wannan cuta cikin miliyan ɗaya. Don haka ba abin mamaki ba ne da ban ji labarinta ba.

Wa ke cikin haɗarin kamuwa da wannan cuta?

Saboda cutar Sandhoff cuta ce ta kwayoyin halitta, idan wani a cikin iyalinka yana da cutar, kana cikin haɗarin kamuwa da cutar . Haka kuma, cutar ta fi yawa a wasu kabilu. Waɗannan sun haɗa da:

• Mutanen Yahudawa Ashkenazi
• Mutanen Creole na arewacin Argentina
• Mutanen Gabashin Turai
• Mutanen Lebanon
• 'Yan Indiyawan Metis a Saskatchewan, Kanada

Wannan yana nufin cewa idan zuriyarka tana da wata alaƙa da waɗannan ƙungiyoyin, akwai ƙaramin haɗari. Amma ka tuna, wannan ba kasafai ake samunsa ba.

Menene dalilin hakan?

Me ke haifar da cutar Sandhoff?Yana faruwa ne sakamakon maye gurbi a cikin kwayar halitta mai suna HEXB. Kwayar halitta ƙaramin littafi ne kawai wanda ke adana bayanai a jikinmu. Idan akwai lahani, ko maye gurbi, a cikin wannan kwayar halittar HEXB, jiki ba zai iya samar da isasshen enzyme beta-hexosaminidase ba. Ba tare da wannan enzyme ba, jiki ba zai iya karya wasu nau'ikan kitse ba. Sannan waɗannan kitsen suna taruwa zuwa matakan guba, musamman a cikin ƙwayoyin jijiyoyi na kwakwalwa da kashin baya.

Mene ne alamun wannan cuta?

An fi ganin nau'in cutar Sandhoff a jarirai . Suna bayyana cikin koshin lafiya a lokacin haihuwa, amma suna fara nuna alamun tsakanin watanni 3 zuwa 6. Waɗannan alamun sun haɗa da:

• Matsalolin girman ƙashi : Yanayi ne da ƙashi ba ya girma yadda ya kamata.
• Motsin da ba a saba gani ba : Idan ka motsa gaɓoɓinka ko kuma ka yi ƙoƙarin tafiya, abubuwa suna faruwa ta hanya mai ban mamaki da rashin daidaituwa.
• Tabo "ja" a idanu : Idan ka kalli cikin ido, za ka ga wani tabo ja wanda yayi kama da launin ceri. Wannan siffa ce ta wannan cuta.
• Faɗaɗa kai (macrocephaly) ko faɗaɗa gabobin ciki (organomegaly) : Gaɓoɓi, musamman hanta da saifa, na iya zama mafi girma fiye da yadda aka saba.
• Amsar firgita : Jaririn yana farawa kuma yana rawar jiki ko da ƙaramin sauti ne.
• Cututtukan numfashi akai-akai : Wannan yana nufin cewa cututtukan da ke da alaƙa da huhu suna faruwa akai-akai.
• Jinkirin ci gaban ƙwarewar motsa jiki : Abubuwa kamar rarrafe, zama, da birgima suna faruwa ne bayan an yi la'akari da sauran jarirai.
• Raunin tsoka, wahalar sarrafa tsokoki (ataxia) ko bugun tsoka (myoclonus) : Jin rauni, rashin daidaito, da kuma wani lokacin girgiza tsoka.

Idan cutar Sandhoff ta yi tsanani, jarirai galibi suna fuskantar waɗannan:

• Rashin ji
• Nakasa ta hankali
• Inna
• Farfadiya ( epilepsy )
• Rashin gani
• Abin takaici, mutuwa a lokacin ƙuruciya .

Ba kasafai ake samun wasu mutane da ke kamuwa da cutar Sandhoff a lokacin ƙuruciya ko kuma a lokacin girma ba. Alamomin suna kama da juna, amma yawanci ba su kai tsanani kamar yadda suke a jarirai ba.

Ta yaya ake gane wannan cuta?

Likitoci suna gano cutar Sandhoff ta hanyar la'akari da waɗannan abubuwan:

• Yin bitar alamomin da kuma lokacin da suka fara : Ya kamata ku tattauna dalla-dalla da likita lokacin da kuka fara lura da canje-canje a cikin ɗanku da kuma waɗannan alamomin.
• Tattaunawa game da tarihin iyali da asalin ƙabila : Yana da muhimmanci a san ko wani a cikin iyalinka yana da waɗannan cututtukan kuma ko kakanninka suna da alaƙa da ƙabilun da aka ambata a baya.
• Gwajin jiki: Likitan zai duba yaron.
• Gwaje-gwajen jini : Ana yin gwaje-gwajen jini don ganin ko sinadarin beta-hexosaminidase yana da ƙarancin sinadarin ko kuma babu shi kwata-kwata.
• Gwajin Halittar Halitta : Ana yin gwajin kwayoyin halitta don tabbatar da ko akwai maye gurbin kwayar halittar HEXB.

Menene hanyoyin magancewa?

Abin takaici, babu maganin cutar Sandhoff . Magungunan da ake amfani da su a yanzu sun fi mayar da hankali ne kan rage alamun cutar da kuma taimaka wa marasa lafiya su kasance cikin kwanciyar hankali gwargwadon iko. Waɗannan na iya haɗawa da:

• Magungunan hana farfadiya suna rage farfadiya.
• Samar da abinci mai kyau .
• Kula da isasshen ruwa a jiki.
• Taimakawa wajen ci gaba da buɗe hanyar iska (rage wahalar numfashi).

Duk da cewa har yanzu babu maganin wannan cuta na dindindin, likitoci da masu bincike suna ci gaba da neman sabbin magunguna. Wannan babban bege ne.

Akwai magunguna da dama da ake bincike a kansu a halin yanzu kuma za su iya taimakawa nan gaba:

• Dashen ƙashi
• Maganin kwayoyin halitta : Wannan yana ƙoƙarin gyara kwayar halitta mai lahani.
• Maganin rage gurɓataccen ƙasa : Wannan ya haɗa da canza ƙwayoyin da ke cikin tsarin cutar da kuma ƙoƙarin dakatar da ci gaban cutar.
• Maganin ƙwayoyin halitta

Yana da matuƙar muhimmanci ga iyalai da cutar Sandhoff ta shafa su yi magana da masana kimiyyar kwayoyin halitta ko masu ba da shawara kan kwayoyin halitta . Za su iya taimakawa wajen yanke shawara ko ya kamata a gwada wani a cikin iyali game da waɗannan sauye-sauyen kwayoyin halitta.

Menene makomar mutanen da ke dauke da wannan cuta?

Gaskiya ne, makomar mutanen da ke fama da cutar Sandhoff ba ta da wani tasiri sosai, kuma tsawon rai yana da gajeru . Idan jarirai suka kamu da wannan cuta, yanayinsu yana ta ƙara ta'azzara da sauri kuma suna mutuwa kafin su kai shekara 3 ko 4. Sau da yawa, yana faruwa ne saboda matsalolin da ke tattare da cututtukan numfashi. Na san wannan abin baƙin ciki ne a ji.

Za mu iya hana wannan cuta?

Abin takaici, babu wata hanyar hana cutar Sandhoff saboda kwayar halitta ce. Duk da haka, masana kimiyyar kwayoyin halitta da masu ba da shawara kan kwayoyin halitta za su iya taimaka maka ka tantance ko wani a cikin iyalinka yana cikin haɗarin kamuwa da cutar. Wannan bayanin zai iya zama da amfani, misali, lokacin yanke shawara ko za ka haifi 'ya'ya.

Idan ɗana yana da cutar Sandhoff, me zan tambayi likitoci?

Idan an gano cewa ɗanka yana da cutar Sandhoff, za ka iya yi wa likitoci tambayoyi kamar:

• Waɗanne irin nakasa za mu iya tsammani?
• Rayuwar ɗanmuNawa ne kudin?
• Wane irin kwararru ya kamata mu gani? Sau nawa ya kamata mu gan su?
• Ta yaya zan kwantar da hankalin jaririna ?
• Ya kamata sauran 'yan uwa su ma a yi musu gwajin kwayoyin halitta ?

Menene hanya mafi kyau don magance cutar Sandhoff?

Akwai abubuwa da dama da za su iya taimaka muku da iyalinku ku shawo kan wannan mawuyacin hali:

• Shawara : Shawara za ta taimaka maka ka kasance mai ƙarfi a tunani da kuma jure wannan baƙin cikin.
• Haɗawa da ƙungiyoyi waɗanda ke tallafawa marasa lafiya da bincike.
• Ƙungiyoyin tallafi : Waɗannan ƙungiyoyin suna da matuƙar muhimmanci wajen yin magana da wasu iyaye waɗanda ke fuskantar irin wannan yanayi da ku da kuma raba abubuwan da suka faru.

Cutar Sandhoff wani nau'in maye gurbi ne na kwayoyin halitta wanda ke sa kitse ya tara har zuwa ƙwayoyin jijiyoyi masu guba a cikin kwakwalwa da kashin baya. Yaran da abin ya shafa suna samun manyan alamu kuma suna mutuwa tun suna ƙanana. Ana ci gaba da bincike don ƙarin fahimtar cutar Sandhoff da kuma yiwuwar maganinta.

Saƙon Ƙarshe na Ɗauka Gida

Ina fatan kun fahimci abin da muka tattauna game da cutar Sandhoff. Mafi mahimmancin abubuwan da ya kamata ku tuna sune:

• Wannan cuta ce da ba kasafai ake samunta a kwayoyin halitta ba .
• Wannan yana lalata ƙwayoyin jijiyoyi , musamman a lokacin ƙuruciya.
• Babban dalilin shine rashin sinadarin beta-hexosaminidase enzyme .
• Babu maganin da zai warke har yanzu, amma akwai magunguna don magance alamun cutar da kuma samar da kwanciyar hankali.
• Ana gudanar da bincike wanda zai iya ba mu bege ga nan gaba.
• Idan wani a cikin iyalinka yana da wannan haɗarin, yana da matuƙar muhimmanci a nemi shawarar kwayoyin halitta .
• A irin wannan yanayi, samun tallafin tunani da ayyukan tallafi zai zama babban ƙarfi a gare ku da iyalinku.

Idan wannan bayanin ya taimaka maka, to abin farin ciki ne. Idan kana da wasu tambayoyi game da wannan, kada ka yi jinkirin yin magana da likita.

Cutar Sandhoff , Cutar Sandhoff, cututtukan kwayoyin halitta, ƙwayoyin jijiyoyi, beta-hexosaminidase, cutar ajiyar lysosomal, alamun tayi, gwajin kwayoyin halitta