Shin ƙaramin yaronka yana da waɗannan alamomin masu ban mamaki? Bari mu yi magana game da cutar Hurler.

Dole ne ka riƙa damuwa da ci gaban ɗanka da halayensa, ko ba haka ba? Wani lokaci, abu ne na al'ada a ji ɗan tsoro idan abubuwa ba su tafi kamar yadda ake tsammani ba. A yau za mu yi magana game da wata cuta mai matuƙar wahala amma mai matuƙar muhimmanci da ya kamata a sani. Ana kiranta da Hurler Syndrome. Wataƙila ba ka taɓa jin wannan sunan ba a da. Amma ya kamata a san da shi, musamman idan wani a cikin iyalinka ya taɓa samun wannan yanayin.

Menene Ciwon Hurler? Bari mu fahimce shi a taƙaice!

To, bari mu fara duba menene Hurler Syndrome. A taƙaice dai, yanayi ne na kwayoyin halitta da ba kasafai ake samunsa ba. Ana ɗaukarsa a matsayin mafi tsanani a cikin rukunin cututtuka da ake kira Mucopolysaccharidosis type 1 (MPS 1). Wasu daga cikin hadaddun sukari a jikinmu, musamman glycosaminoglycans (wanda a da ake kira mucopolysaccharides), suna buƙatar wani enzyme na musamman don wargaza su da kuma cire su daga jiki. Mutumin da ke fama da Hurler Syndrome ba ya samar da wannan enzyme, ko kuma yana samar da shi kaɗan.

Ka yi tunanin, me zai faru idan mai tattara shara a gidanmu bai yi aiki yadda ya kamata ba? Shara tana taruwa, ko? Haka take. Idan wannan enzyme ya ɓace, waɗannan sukari suna taruwa a sassan jiki da ake kira `(lysosomes)` a cikin ƙwayoyin halitta. Waɗannan `(lysosomes)`` suna kama da ƙananan 'cibiyoyin tsaftacewa' a cikin ƙwayoyin halitta. Sannan, waɗannan sukari suna taruwa a cikin waɗannan, kuma suna cika kamar tarin shara. Wannan kuma ana kiransa `(yanayin adana lysosomal)`. Idan wannan ya faru, ƙwayoyin ba za su iya aiki yadda ya kamata ba, kuma wani lokacin ƙwayoyin suna mutuwa. Shi ya sa alamun cutar Hurler ke bayyana.

Wannan yanayin na iya haifar da rashin daidaituwa a cikin ƙashi da haɗin gwiwa, siffofi na musamman na fuska, matsalolin ci gaban tunani, cututtukan zuciya, matsalolin huhu, da kuma girman hanta da saifa . Idan wannan ya faru a cikin yaro, alamun na iya zama barazana ga rayuwa, kuma abin takaici, tsawon rayuwar za a iya rage shi.

Me kuma ake kira MPS I a cikin wannan rukuni?

Mun ambata a baya cewa cutar Hurler ita ce mafi tsanani a cikin ƙungiyar `(MPS I)`. Akwai wasu nau'i biyu a cikin wannan ƙungiyar `(MPS I)`.

• Ciwon Hurler - Wannan shine nau'in da ya fi tsanani da muke magana a kai.
• Ciwon Hurler-Scheie - Wannan nau'in matsakaici ne na tsanani.
• Ciwon Scheie - Wannan shine nau'in da ba shi da tsanani a cikin wannan rukunin.

Waɗannan nau'ikan guda uku suna kama da nau'ikan cututtuka iri ɗaya daban-daban. Kamar masu sauƙi da masu tsanani. Likitoci galibi suna kiran nau'ikan guda biyu marasa tsanani da "masu rauni MPS I".

Babban bambance-bambancen da ke tsakanin waɗannan nau'ikan shine lokacin da alamun suka fara bayyana, saurin cutar, da kuma tasirin da ke kan hankali. A cikin cutar Hurler, alamun sau da yawa suna bayyana jim kaɗan bayan haihuwa.Hakanan yana da tasiri mai mahimmanci akan ci gaban hankali. A wasu nau'ikan ''MPS I mai raguwa'', alamun ba za su bayyana ba har sai sun kai shekara shida ko bakwai. Haka kuma, tasirin da ke kan hankali ba shi da tsanani kamar na cutar Hurler. Saboda haka, mutanen da ke da ''(MPS I mai raguwa)'' na iya rayuwa tsawon rayuwa ta yau da kullun.

Wanene zai iya kamuwa da cutar Hurler?

Wannan wani sauye-sauye ne na kwayoyin halitta wanda zai iya shafar kowane yaro. Duk da haka, idan wani a cikin iyalinka ya kamu da Mucopolysaccharidosis nau'i na I, ɗanka yana cikin haɗarin kamuwa da wannan yanayin kaɗan. Wannan ba abu ne da uwa ta yi ba a lokacin daukar ciki.

Yaya wannan yanayin ya zama ruwan dare?

Ciwon Hurler cuta ce da ba kasafai ake samunta ba. An kiyasta tana shafar kusan jarirai 100,000. Maza da mata duka suna da yuwuwar kamuwa da ita. Nau'in MPS I wanda ba shi da tsanani, wanda aka ambata a baya, yana shafar kusan jarirai 1 cikin 500,000.

Ta yaya cutar Hurler ke shafar jikin jariri?

Wannan yanayin yana shafar fannoni da dama na jikin jariri da ke girma. Wasu daga cikin alamomin jiki da ke haifar da wannan yanayin sun shafi wannan yanayin. Misali:

• Kan ya fi girma fiye da na al'ada.
• Idanu masu gajimare suna faruwa ne lokacin da farin ɓangaren ido (cornea) da ke kewaye da baƙar zoben ido ya bayyana kamar gajimare.
• Sifofin Fuska: Ƙara tazara tsakanin idanu, faɗaɗa goshi, faɗin gada ta hanci, faɗin lebe, da sauransu.
• Yana kuma shafar yadda ƙasusuwa ke girma, wanda hakan zai iya haifar da raguwar tsayin jariri (ƙarancin numfashi).

Baya ga waɗannan alamomin na waje, yana kuma shafar gabobin jiki. Musamman zuciya da huhu. Saboda haka, jariri na iya samun kamuwa da kunne akai-akai, kamuwa da sinus, da kuma kamuwa da huhu. Wani lokaci, ana iya buƙatar injuna don taimakawa wajen numfashi, kuma ana iya buƙatar tiyata don gyara lalacewar gabobin jiki.

Alamomin cutar Hurler na iya zama barazana ga rayuwa. Duk da haka, idan aka gano cutar kuma aka yi mata magani da wuri, za a iya ƙara lokacin da jaririn zai rayu.

Idan kina shirin yin ciki a nan gaba, yana da kyau ki fahimci haɗarin waɗannan cututtukan da aka gada, ki yi magana da likitanki, sannan ki koyi game da gwajin kwayoyin halitta.

Mene ne alamun cutar Hurler?

Alamomin wannan cuta na iya bambanta daga mutum zuwa mutum, kuma suna iya bambanta a tsanani. Alamomin yawanci suna farawa ne tun daga ƙuruciya. Ɗaya daga cikin manyan halayen da ke bambanta wannan da sauran nau'ikan MPS I shine yana nuna jinkiri a ci gaban hankali tun farkon rayuwa kuma a hankali yana raguwa a cikin iyawar koyo da ƙwaƙwalwa akan lokaci.A cikin nau'ikan MPS I masu sauƙi, hankali ba ya shafar hankali sosai.

Ga wasu alamomin cutar Hurler:

• Matsalolin bawul ɗin zuciya, raunin tsokar zuciya (cardiomyopathy)
• Rashin ji ko rashin ji gaba ɗaya
• Tarin ruwan cerebrospinal a kusa da kwakwalwa (hydrocephalus)
• Faɗaɗa gabobi da nama mai haɗin kai, kamar hanta, saifa, tonsils, da tsokoki
• Matsalolin gani, misali, ƙaruwar matsin lamba a ido (glaucoma)
• Matsalolin gaɓoɓi (taurin haɗin gwiwa, ciwon ramin carpal, cututtukan gaɓoɓi)
• Cututtukan numfashi akai-akai, apnea na barci, da wahalar numfashi
• Hernia (kumburi a cikin ciki ko makwancin gwaiwa)

Siffofin da ake iya gani a waje

A shekarar farko ta jaririnka, za ka iya fara ganin waɗannan alamun a waje:

• Gajeren tsayi
• Dysostosis ( rashin daidaiton daidaiton ƙasusuwa )
• Lanƙwasa gaba na baya na sama (kamar ƙashin baya) (kyphosis na thoracic-lumbar)
• Girman gashi mai yawa a jiki, musamman a fuska da baya

Menene dalilin hakan?

Babban abin da ke haifar da cutar Hurler shine maye gurbi a cikin kwayar halittar da ake kira 'IDUA'. Wannan kwayar halittar 'IDUA' ita ce ke ba da umarni don samar da '(enzymes lysosomal)' da muka yi magana a baya. Ku tuna, wannan enzyme yana wargaza sharar gida (waɗannan sukari) a cikin ƙwayoyin halitta. Sannan, lokacin da wannan kwayar halittar 'IDUA' ba ta aiki yadda ya kamata, ba a samar da wannan enzyme a cikin adadi mai yawa ba. Sakamakon haka, waɗannan sharar gida suna taruwa a cikin ƙwayoyin halitta, kuma ƙwayoyin halitta suna mutuwa ko kuma ba sa aiki yadda ya kamata. Shi ya sa alamun cutar Hurler ke bayyana.

Ta yaya wannan ke faruwa daga tsara zuwa tsara?

Wannan yanayi ne na gado, ma'ana ana yada shi daga iyaye zuwa yara. Ana gadonsa ta hanyar autosomal recessive. A taƙaice dai, domin yaro ya kamu da wannan yanayin, dole ne yaron ya gaji kwayar halittar 'IDUA' mai lahani daga uwa da uba. Idan iyaye ɗaya ne kawai suka gaji kwayar halittar da ba ta da lahani, yaron ba zai kamu da cutar ba. Duk da haka, wannan yaron zai iya zama 'mai ɗauke da cutar'. Wannan yana nufin cewa ko da ba su da alamun cutar, za su iya yada kwayar halittar ga 'ya'yansu.

Ta yaya ake gane cutar Hurler?

Abin farin ciki, akwai gwaje-gwaje da za su iya gano wannan yanayin kafin a haifi jariri. Ana kiran waɗannan gwaje-gwajen tantancewa kafin haihuwa.

• Amniocentesis: Wannan ya ƙunshi ɗaukar ƙaramin samfurin ruwan amniotic da ke kewaye da jaririn da kuma gwada shi.
• Samfurin Chorionic villus: Wannan ya ƙunshi ɗaukar ƙaramin yanki na nama daga mahaifa a gwada shi.

Duk waɗannan gwaje-gwajen na iya duba rashin daidaituwar kwayoyin halitta a cikin DNA na jaririn.

Bayan an haifi jaririn, likita zai duba jaririn, ya duba alamun cutar, sannan ya yi gwajin aikin enzymes don tabbatar da cutar. Za su kuma tambayi ko akwai wanda ke cikin iyalin da ya taɓa samun wannan cuta (mucopolysaccharidosis), domin yana iya zama gado.

A wasu lokutan, ana iya yin ƙarin gwaje-gwaje don tabbatar da ganewar cutar. Misali:

• Hoton X-ray don duba ƙasusuwan jaririn
• Echocardiogram (duba zuciya)
• Gwaje-gwajen jini da fitsari

Menene maganin wannan?

Maganin cutar Hurler ya fi mayar da hankali kan hana da kuma kula da alamun cutar.

Manyan magunguna guda biyu da ake da su a yanzu sune:

1. Maganin Sauya Enzyme (ERT): Wannan ya ƙunshi ba wa jiki enzyme wanda ba shi da shi. Ana kiran enzyme ɗin alpha L-iduronidase (sunan alamar aldurazyme). Wannan zai iya taimakawa wajen hana alamun cutar su tsananta da kuma magance wasu matsaloli. Ana fara wannan maganin da zarar an gano cutar. Wannan magani ne na tsawon rai wanda ake bayarwa a matsayin allura . Likita zai yanke shawara kan sau nawa ya kamata a yi allurar, ya danganta da tsananin cutar.

2. Dashen Kwayoyin Halittar Jini (HSCT): Wannan kawai dashen ƙashi ne. Wannan magani yawanci ana ba wa yara 'yan ƙasa da shekara biyu (wani lokacin manya, a ƙarƙashin kulawar likita). A cikin mawuyacin hali, yana iya taimakawa wajen tsawaita rayuwa, hana yaɗuwar cutar, kiyaye ƙwarewar hankali, da rage alamun jiki. Wannan ya haɗa da dasa ƙwayoyin halitta masu samar da enzyme daga bargon ƙashi na mai bayarwa mai lafiya zuwa cikin yaron.

Baya ga waɗannan manyan magunguna, akwai wasu magunguna don magance alamun:

• Tiyata: Ana iya yin tiyata don gyara ko maye gurbin bawul ɗin zuciya, cire cataracts da saka ruwan tabarau na roba (maye gurbin cornea), gyara matsalolin ci gaban ƙashi, da kuma gyara hernia.
• Magunguna daban-daban na warkewa: Maganin motsa jiki, maganin aiki, maganin magana, da sauransu.
• Idan kana da wahalar numfashi, yi amfani da na'ura kamar na'urar CPAP.
• Idan ba ka da isasshen ji, yi amfani da na'urorin ji.
• Maganin rage radadi don rage radadin da alamun cutar ke haifarwa.

Akwai wasu matsaloli daga maganin?

A wasu lokuta, matsaloli na iya faruwa saboda maganin sa barci da aka bayar yayin tiyata, domin waɗannan yaran suna da wahalar numfashi kuma maƙurar haɗin gwiwa yana sa ya yi wuya a saka layin IV.

Haka kuma, domin samun mafi kyawun amfani da magungunan ERT da HSCT, yana da mahimmanci a fara su akan lokaci. Jinkirin magani, musamman idan alamun da suka shafi ci gaban hankali sun riga sun bayyana, na iya rage sakamakon. Saboda haka, kafin fara magani ga yaronka, yi magana da likitanka game da yiwuwar illa ko rikitarwa.

Akwai wata hanya da za a hana wannan yanayin faruwa ga jaririn?

Abin takaici, cutar Hurler cuta ce ta kwayoyin halitta, don haka ba za a iya hana ta ba. Duk da haka, idan kuna shirin samun yara a nan gaba, yana da kyau ku tuntuɓi likita don ba da shawara kan kwayoyin halitta, kuma idan ya cancanta, gwajin kwayoyin halitta don fahimtar haɗarin da ke tattare da wannan yanayin kwayoyin halitta.

Me zai faru idan aka haifi jariri mai cutar Hurler?

Wannan abin baƙin ciki ne ƙwarai a ji. Hasashen yara masu fama da cutar Hurler ba shi da kyau sosai. Saboda tsananin alamun wannan cuta, musamman tasirinta ga zuciya da huhu, matsakaicin tsawon rayuwar yaro yana kusan shekaru 10. Duk da haka, idan aka gano cutar da wuri kuma aka fara jiyya kamar `HSCT` (dashen ƙashi) da `ERT` (maganin enzyme), ana iya tsawaita tsawon rayuwar ɗan adam kaɗan.

Yara masu matsakaicin ko ƙananan nau'in MPS I na iya rayuwa har zuwa shekarunsu na 20 zuwa 30 idan aka yi musu magani. Mutuwa da wuri sau da yawa tana faruwa ne sakamakon gazawar numfashi.

Amma ku tuna, idan cutar ba ta da tsanani kuma an fara magani da wuri, za ku iya ma iya rayuwa ta yau da kullun.

Akwai maganin wannan gaba ɗaya?

Zuwa yanzu, babu maganin cutar Hurler. Duk da haka, magungunan da ake amfani da su a yanzu na iya taimakawa wajen tsawaita rayuwa da kuma rage alamun da ke barazana ga rayuwa.

Yaushe ya kamata ka kai jaririnka wurin likita?

Idan kuna zargin jaririnku yana da alamun cutar Hurler, musamman idan bai kai matsayin ci gaba kamar yadda ake tsammani ba dangane da shekarunsa, ko kuma idan yana da alamun yana fuskantar matsala wajen gani ko ji, ku ga likitan yaronku nan da nan.

Gaggawa! Idan jaririnka yana fama da matsalar numfashi, ko yana jin kamar bugun zuciyarsa ba ta daidaita ba, ko kuma yana rasa sani akai-akai (waɗannan na iya zama alamun cututtukan zuciya), kai shi asibiti mafi kusa nan da nan, ko kuma a kira 1990.

Waɗanne tambayoyi ya kamata ka yi wa likitan?

Idan ka gano cewa ɗanka yana da wannan matsalar, abu ne da ya zama ruwan dare a yi tambayoyi da yawa. Ka tambayi likitanka game da abubuwa kamar:

• Menene mafi kyawun magani ga yanayin ɗana don hana bayyanar cututtuka?
• Akwai wasu illoli daga magungunan da kuke ba da shawarar?
• Sau nawa ya kamata ɗana ya karɓi allurar maganin maye gurbin enzyme?

Mene ne bambanci tsakanin Hurler Syndrome da Hunter Syndrome?

Duk waɗannan biyun "yanayin adana lysosomal ne." Wato, cututtukan da sharar gida ke taruwa a cikin ƙwayoyin halitta. Duk da haka, akwai wasu ƙananan bambance-bambance tsakanin su biyun:

• Ciwon Hurler: Wannan ita ce mafi tsanani nau'in Mucopolysaccharidosis nau'in I (MPS I). A cikin wannan, enzyme na jiki da ake kira alpha-L-iduronidase yana raguwa.
• Ciwon Hunter: Wannan yanayi ne da bai kai na Hurler Syndrome tsanani ba. Yana cikin rukunin Mucopolysaccharidosis type II (MPS II). A cikin wannan, enzyme ɗin da ke cikin jiki da ake kira idoronate-2-sulfatase (I2S) ya ragu.

A ƙarshe, abubuwan da za a tuna

Ganewar cutar Hurler Syndrome na iya zama abu mai wahala ga iyali su magance, musamman ma da tambayoyi da yawa da ke tasowa game da rayuwar yaron. A wannan mawuyacin lokaci, yana da mahimmanci a yi aiki tare da likitocin yaronku kuma ku kasance masu cikakken bayani game da cutar da hanyoyin magani. Hakanan, ku tuna cewa ba ku kaɗai ba ne. Nemi taimako daga dangi, abokai, da ƙwararrun kiwon lafiya waɗanda za su iya ba da ta'aziyya. Ganewar cutar da wuri da kuma maganin da ya dace zai iya taimaka wa yaronku ya rayu mafi kyawun rayuwa.

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