Shin ɗanka yana da waɗannan alamomin? Bari mu koyi game da Ciwon Shprintzen-Goldberg (SGS)

A yau za mu yi magana ne game da wata cuta ta kwayoyin halitta da ba kasafai ake ganinta ba, wadda ke nufin ba kowa ne ke ganinta ba. Ana kiranta da Shprintzen-Goldberg Syndrome (SGS). Wataƙila ba ka ma ji labarin wannan sunan ba. Amma yana da matuƙar muhimmanci a san irin waɗannan yanayi, domin a lokacin za mu iya gane alamun da sauri kuma mu sami shawarar likita da ta dace.

Menene Ciwon Shprintzen-Goldberg (SGS)?

A taƙaice dai, cutar Shprintzen-Goldberg (SGS) wata cuta ce ta kwayoyin halitta da ba kasafai ake samunta ba wadda ke shafar sassa daban-daban na jikinmu. Yawanci tana sa yaro ya sami wasu siffofi na fuska daban-daban, haɗewar ƙasusuwan kwanyar da wuri (wannan ana kiransa ''Craniosynostosis''), canje-canje daban-daban na ƙasusuwa, matsaloli tare da kwakwalwa da tsarin jijiyoyi (misali, jinkiri a ci gaban hankali), da kuma wasu lahani na zuciya.

Akwai wasu sunaye guda biyu da ake amfani da su don wannan yanayin, ''Marfanoid-craniosynostosis syndrome'' da ''Shprintzen-Goldberg craniosynostosis syndrome''. Duk da cewa sunayen na iya zama kamar suna da ɗan rikitarwa, mabuɗin shine a fahimci cewa wannan yanayin kwayoyin halitta ne.

Yaya yawan SGS yake?

Ciwon Shprintzen-Goldberg a zahiri cuta ce da ba kasafai ake samunta ba. Zuwa yanzu, bayanan likita sun ambaci ƙasa da mutane 50 da suka kamu da wannan cutar. Wannan yana nufin akwai mutane kaɗan ne kawai da ke ɗauke da wannan cutar a duniya.

Wani abu kuma game da wannan shi ne cewa alamun SGS sun yi kama da wasu cututtuka guda biyu na kwayoyin halitta da ake kira Marfan Syndrome da Loeys-Dietz Syndrome, don haka wani lokacin yana iya zama da wahala ga likitoci su gano shi daidai. Saboda haka, yana da wuya a faɗi ainihin adadin mutanen da ke da wannan yanayin.

Mene ne bambanci tsakanin Ciwon Shprintzen-Goldberg, Ciwon Marfan, da Ciwon Loeys-Dietz?

Duk da cewa alamun waɗannan yanayi guda uku na iya kama da juna, amma sauye-sauyen kwayoyin halitta daban-daban ne ke haifar da su. Musamman ma, mutanen da ke da SGS sun fi fuskantar nakasa ta hankali. Suna kuma da ƙarancin haɗarin kamuwa da cututtukan zuciya fiye da waɗanda ke da Marfan Syndrome da Loeys-Dietz Syndrome. Amma ku tuna, duk waɗannan abubuwa na iya bambanta daga mutum zuwa mutum.

Mene ne ke haifar da cutar Shprintzen-Goldberg (SGS)?

A mafi yawan lokuta, babban abin da ke haifar da SGS shine maye gurbi a cikin kwayar halitta da ake kira `(SKI)` a jikinmu. Wannan kwayar halittar SKI tana samar da furotin wanda ke taimakawa a cikin muhimman matakai da yawa a cikin ƙwayoyin halittarmu, kamar girma, rarrabuwa, motsi, balaga, da mutuwa.

Ka yi tunani kawai, tunda wannan furotin na SKI yana cikin kyallen jiki daban-daban, idan akwai canji a cikin wannan kwayar halitta, zai iya shafar sassa daban-daban na jiki. Shi ya sa muke ganin alamu daban-daban a cikin SGS.

Duk da haka, wasu marasa lafiya na SGS ba su da maye gurbin kwayoyin halittar SKI, don haka masana kimiyya har yanzu suna binciken wasu dalilai da za su iya haifar da wannan yanayin a irin waɗannan yanayi.

Shin wannan abu ne da ke fitowa daga tsararraki?

A mafi yawan lokuta, ba a gadon cutar Shprintzen-Goldberg ba.Wannan maye gurbi na kwayoyin halitta yawanci yakan faru ba zato ba tsammani, wato, bayan ɗaukar ciki, a lokacin matakin tayi. Saboda haka, mutane da yawa da ke da wannan yanayin ba su da tarihin cutar a cikin iyali.

Duk da haka, ba kasafai ake iya yada wannan yanayin daga iyaye zuwa yara ba. Idan aka yada shi, yana cikin tsarin autosomal dominant. A taƙaice dai, wannan yana nufin cewa ko da yaro ya gaji kwafin kwayar halittar da aka canza daga iyaye ɗaya kawai, yaron zai iya kamuwa da wannan yanayin.

Mene ne alamun cutar Shprintzen-Goldberg (SGS)?

Alamomin SGS na iya bambanta sosai daga mutum zuwa mutum. Wasu mutane suna da alamun rashin lafiya, yayin da wasu kuma suna da alamun rashin lafiya mai tsanani. Waɗannan alamun na iya shafar sassa daban-daban na jiki.

Alamomin haɗewar ƙasusuwan kwanyar da wuri (`(Craniosynostosis)`):

Idan ƙasusuwan kan jariri suka haɗu wuri ɗaya kafin lokaci, ko dai a cikin mahaifa ko kuma a lokacin haihuwa, wata cuta da ake kira "Craniosynostosis", alamu kamar:

• Kai mai tsayi da siriri.
• Ƙara tazara tsakanin idanu, idanuwa suna fitowa gaba ko kuma suna karkata zuwa ƙasa.
• Bakin da ke da tsayi da siriri (saman baki).
• Goshi mai tsayi, bayyananne.
• Ƙaramin ƙugiya ta ƙasa.
• Ana sanya kunnuwa ƙasa da yadda aka saba kuma wani lokacin ana juya su baya.

Sauran matsalolin ƙashi:

Baya ga wannan, ana iya ganin wasu canje-canje a cikin kwarangwal kamar:

• Haɗakar haɗin gwiwa.
• Kwankwason ƙafa.
• Kirji yana fitowa gaba ko nutsewa cikin (Pectus excavatum/carinatum).
• Ciwon scoliosis.
• Yatsun da ke lanƙwasa har abada (`(Camptodactyly)`).
• Ya fi tsayi fiye da hannaye da ƙafafu na yau da kullun.
• Dogayen yatsu siriri (`(Arachnodactyly)`). Wasu suna cewa suna kama da ƙafafun gizo-gizo.

Wasu mutane kuma na iya fuskantar irin waɗannan alamun:

• Matsalolin kwakwalwa, misali, yawan ruwa a cikin kwakwalwa (hydrocephalus).
• Jinkirin ci gaba da kuma nakasar hankali mai sauƙi zuwa matsakaici.
• Matsalolin tsarin narkewar abinci, misali maƙarƙashiya ko jinkirin fitar da ciki (Gastroparesis).
• Ciwon ciki ko ƙashin ƙugu (`(Hernias)`).
• Ragewar fata, kamar ana iya gani ta cikinta, da kuma sauƙin kumbura.
• Wahalar numfashi.
• Raunin tsoka (`(Hypotonia)`). Wannan yana nufin yanayin da jiki ke jin babu rai.

Alamomin zuciya marasa ƙarfi:

Ba kowa ne ke samun waɗannan matsalolin ba, amma wasu mutane na iya kamuwa da cututtukan zuciya kamar haka:

• Rauni a cikin aorta (raunana bangon aorta).
• Jini yana kwarara baya saboda bawul ɗin aorta baya rufewa yadda ya kamata (Aorta regurgitation).
• Faɗaɗa tushen aorta (`(Faɗaɗa tushen aorta)`).
• Jini yana zuba daga bawul ɗin zuciya (`(Bawul ɗin Mitral regurgitation)`).
• Mitral bawul prolapse (aikin da bai dace ba na bawul ɗin mitral na zuciya).

Abu mafi muhimmanci shi ne ba duk masu fama da cutar SGS ne ke da waɗannan alamomin ba. Wasu mutane kaɗan ne kawai ke da su, kuma tsananin alamun na iya bambanta.

Ta yaya ake gano cutar Shprintzen-Goldberg (SGS)?

Gano cutar SGS na iya ɗan zama ƙalubale. Kamar yadda na ambata a baya, saboda yanayi ne mai wuya kuma ana iya rikitar da shi da cutar Marfan ko Loeys-Dietz Syndrome, wani lokacin ana iya jinkirta ganewar asali.

Likita yana yin ganewar asali ne bisa ga alamu da alamu. Wannan yana nufin yin bincike mai zurfi kan yanayin jikin yaron, ci gabansa, da sauran matsalolin lafiya. Wani lokaci gwajin kwayoyin halitta na iya tabbatar da sauye-sauyen kwayoyin halittar SKI. Duk da haka, saboda mutanen da ba su da wannan sauye-sauyen kwayoyin halitta suma suna iya samun SGS, a halin yanzu babu wasu gwaje-gwaje na musamman da za su iya taimakawa wajen gano cutar.

Ta yaya ake maganin cutar Shprintzen-Goldberg (SGS)?

Abin takaici, a halin yanzu babu takamaiman maganin wannan cuta. Babban burin maganin cutar Shprintzen-Goldberg shine a magance alamun cutar da kuma taimaka wa majiyyaci ya rayu rayuwa mai kyau gwargwadon iko.

Zaɓuɓɓukan magani na iya bambanta, ya danganta da alamun majiyyaci. Ga wasu misalai:

• Sauƙaƙa tafiya ta hanyar sanya kayan tallafi na ƙafa ko baya (`(braces)`).
• Amfani da bututun ciyarwa, idan ya cancanta, don tabbatar da ingantaccen abinci mai gina jiki.
• Gudanar da magunguna don magance matsalolin zuciya.
• Tiyata don gyara lahani na zuciya ko matsalolin ƙashi a cikin kwanyar kai, kashin baya, ko ƙirji.
• Idan hanyar iska ta toshe, za a iya yin tiyatar buɗewa (tracheostomy) a gaban wuya.

Haka kuma, likitanka zai iya ba da shawarar waɗannan gwaje-gwajen sau ɗaya a shekara ko bayan shekara biyu, domin suna iya taimaka maka ka ga ko akwai wasu canje-canje a yanayinka:

• Gwajin yawan ƙashi.
• Gwajin echocardiogram don saka idanu kan zuciya.
• Gwaje-gwajen Magnetic resonance angiography (MRA) ko kuma gwaje-gwajen computed tomography angiography (CTA) don duba jijiyoyin jini.
• Duba ko akwai wani canji a cikin kwarangwal (X-ray).

Ana iya buƙatar ƙungiyar ƙwararru don magance wanda ke fama da cutar Shprintzen-Goldberg. Wannan ƙungiyar na iya haɗawa da ƙwararru kamar:

• Likitan Zuciya
• Babban likitan tiyatar craniofacial (likitan tiyatar ƙashi na kai da fuska)
• Masanin Halittar Halitta
• Likitan tiyata na kwakwalwa da tsarin jijiyoyi (`(Likitan tiyata na kwakwalwa)`)
• Mai ilimin hanyoyin kwantar da hankali na sana'a - Mutumin da ke taimaka wa mutane su yi ayyukan yau da kullum cikin sauƙi.
• Likitan ido - don matsalolin gani (misali myopia).
• Likitan tiyata na baki - Ga matsalolin da suka shafi hakora da muƙamuƙi.
• Likitan ƙashi (likitan ƙashi, haɗin gwiwa da ƙashin baya)
• Likitan yara
• Mai ilimin motsa jiki - Mutumin da ke taimakawa wajen inganta motsi da aikin jiki.
• Masanin ilimin halayyar ɗan adam
• Masanin Radiology (`(Masanin Radiology)`) - don daukar hoton likita.
• Mai ba da shawara kan magana (`(Mai ba da shawara kan magana)`) - don matsalolin magana.

Da taimakon dukkan waɗannan mutanen ne za mu iya samar da mafi kyawun magani da kulawa ga majiyyaci.

Za a iya hana cutar Shprintzen-Goldberg (SGS)?

A halin yanzu babu wata hanyar da za a hana sauye-sauyen kwayoyin halitta da ke haifar da cutar Shprintzen-Goldberg. Wannan saboda sau da yawa yana faruwa bazuwar. Haka kuma, masana kimiyya ba su da tabbas game da wasu abubuwan da ke haifar da shi banda kwayar halittar SKI.

Yaya tsawon rai da ake tsammani daga cutar Shprintzen-Goldberg (SGS)?

Tsawon rayuwar wanda ke fama da SGS ya dogara ne da tsananin yanayin. A lokuta masu ƙananan alamu, tsawon rayuwar ba zai yi tasiri sosai ba. Duk da haka, a lokuta inda kwakwalwa, zuciya, ko tsarin narkewar abinci suka yi tsanani, tsawon rayuwar na iya raguwa.

Me kuma ya kamata in tambayi likitana game da cutar Shprintzen-Goldberg (SGS)?

Idan ka gano cewa ɗanka yana da cutar Shprintzen-Goldberg, za ka iya samun tambayoyi da yawa. A irin waɗannan lokutan, yana da kyau ka yi wa ƙungiyar likitocinka tambayoyi kamar:

• Shin wannan sauye-sauyen kwayoyin halitta ya gada ne, ko kuwa ya faru ne kwatsam?
• Wadanne tsarin jiki ne wannan yanayin ke shafar a jikin yaron?
• Wane magani ne ɗana yake buƙata?
• Wadanne alamomi ko alamu ne ke buƙatar kulawar gaggawa ta likita?
• Shin ɗana zai sami jinkiri a ci gaba ko kuma nakasa ta hankali?
• Shin wannan yanayin zai rage tsawon rayuwar ɗana?
• Wane irin kwararru ya kamata mu gani? Sau nawa?
• Ya kamata a riƙa duba ƙasusuwa, zuciya, jijiyoyin jini, da kwakwalwa na ɗana akai-akai?
• Akwai ƙungiyoyin tallafi da za su iya taimaka mana mu rayu da wannan yanayin?
• Kuna ba da shawarar shawarar kwayoyin halitta ko gwaji?

Duk da cewa cutar Shprintzen-Goldberg cuta ce da ba kasafai ake samunta a cikin kwayoyin halitta ba, yana da muhimmanci a san ta kuma a nemi shawarar likita da wuri-wuri. Idan kuna tunanin yaronku yana da ɗaya daga cikin waɗannan alamun, don Allah a tuntuɓi ƙwararren likita don a gano cutar da ta dace.

A ƙarshe, ku tuna da wannan (Saƙon Ɗauka Gida)

Ciwon Shprintzen-Goldberg (SGS) wata cuta ce da ba kasafai ake samunta a cikin kwayoyin halitta ba wadda ke iya haifar da canje-canje a fuskar yaro, kwarangwal, kwakwalwa, har ma da zuciya.Ana iya gadon wannan, ko kuma yana iya faruwa ba zato ba tsammani.

Ko da yake babu magani, akwai nau'ikan magunguna daban-daban da ake da su don taimakawa wajen magance alamun. Tare da taimakon ƙungiyar ƙwararru, ɗanka zai iya rayuwa yadda ya kamata. Idan kana zargin ɗanka yana da waɗannan alamun, kada ka ji tsoron yin magana da likita. Gano cutar da wuri da kuma magani mai kyau na iya kawo babban canji. Ka tuna, ba kai kaɗai ba ne. Akwai ƙungiyoyin tallafi da albarkatu da ake da su don taimaka wa iyalai da ke fama da waɗannan yanayi.

Ciwon Shprintzen -Goldberg, SGS, Cututtukan Halitta, Craniosynostosis, SKI Gene, Matsalolin Ƙashi, Jinkirin Ci Gaba, Cututtuka Masu Sauƙin Gaggawa