Shin kana da tarin cystine a cikin ƙwayoyin jikinka? Wannan ana kiransa cystinosis!

Ka yi tunanin, me zai faru idan amino acid mai suna `(cystine)` (cysteine) ya fara taruwa a cikin ƙananan ƙwayoyin halitta a jikinmu? Wannan shine yanayin da ake kira `(Cystinosis). Wannan cuta ce ta kwayoyin halitta da ba a saba gani ba, amma ya kamata a yi la'akari da ita da muhimmanci sosai. Lokacin da `(cystine)` ya taru da yawa a cikin ƙwayoyin halitta, waɗannan ƙwayoyin za su iya lalacewa. A takaice dai, wannan `(cystine)` yana sa ƙananan lu'ulu'u su samar a cikin ƙwayoyin halitta, kuma idan suka taru, suna haifar da matsaloli ga gabobin jiki da kyallen jiki daban-daban a jikinmu. Bari mu yi magana game da wannan `(Cystinosis)` dalla-dalla kuma a yau kawai, ko?

Menene Cystinosis? Bari mu fahimta daidai!

A taƙaice dai, cystinosis yanayi ne na kwayoyin halitta . Abin da ke faruwa a cikin wannan shi ne cewa amino acid `(cystine)` (cysteine) yana taruwa a cikin ƙwayoyin halittarmu. Kun sani, amino acid suna da matuƙar muhimmanci ga jikinmu. Duk da haka, idan wannan `(cystine)` ya kasance a cikin ƙwayoyin halitta, yana da illa ga ƙwayoyin halitta. Saboda wannan yawan `(cystine)` , ƙananan abubuwa kamar lu'ulu'u suna fitowa a cikin ƙwayoyin halitta. Waɗannan lu'ulu'u suna taruwa a hankali kuma suna fara lalata gabobin jiki da kyallen jiki daban-daban a jikinmu.

Cystinosis galibi yana shafar koda da idanu . Duk da haka, yana iya lalata kwakwalwa, tsokoki, hanta, thyroid, pancreas, da kuma maza, ƙwayayen.

Wannan ba kasafai yake faruwa ba, ma'ana yana shafar kusan mutum ɗaya cikin dubu. Duk da haka, cuta ce mai matuƙar tsanani, wadda take rayuwa har abada . Duk da haka, idan aka gane ta da wuri kuma aka yi mata magani yadda ya kamata, za a iya shawo kan ci gaban cutar da kuma taɓarɓarewarta. Duk da haka, mutane da yawa daga ƙarshe suna kamuwa da cutar koda ta ƙarshe kuma suna buƙatar dashen koda.

Akwai nau'ikan cystinosis daban-daban?

Eh, akwai manyan nau'ikan cystinosis guda uku. Ana rarraba waɗannan nau'ikan bisa ga shekarun da alamun suka fara bayyana (watau lokacin da cutar ta fara) da kuma tsananin alamun.

1. Ciwon cystinosis na Nephropathic (nau'in jarirai)

Wannan ita ce nau'in da aka fi sani . Kimanin kashi 95% na mutanen da ke dauke da cutar cystinosis suna da wannan nau'in. Haka kuma ita ce nau'in da ya fi tsanani . Ana kuma kiransa da cystinosis na jarirai.

Jarirai masu wannan `(Nephropathic cystinosis)` suna samun wata cuta ta musamman da ke lalata koda . Ana kiranta `(renal Fanconi syndrome)`. A cikin wannan yanayin, ma'adanai da sauran abubuwan gina jiki da jikinmu ke buƙata ba sa shiga cikin jini yadda ya kamata, amma ana fitar da su cikin fitsari. Ka yi tunanin, lokacin da jikin ƙaramin yaro ya rasa abubuwan da yake buƙata ta wannan hanyar,Girman jaririn ya tsaya cak, ƙasusuwa suka yi rauni, suna iya lanƙwasawa (wannan kuma ana kiransa "rickets"), da kuma wasu matsaloli da yawa.

Yawanci, bayan shekaru biyu , lu'ulu'u na cystine suna fara samuwa a cikin cornea na idanun yaro. Waɗannan lu'ulu'u suna taruwa, kuma bayan lokaci, idanun suna jin daɗin haske (photophobia). Wannan na iya haifar da mummunan ciwon ido da rashin jin daɗi . Kamar dai idanu suna yin shuɗi idan aka fallasa su ga hasken rana.

Yaran da ke fama da wannan '(Cystinosis na Nephropathic)' tabbas suna buƙatar dashen koda. Idan ba a yi musu magani ba, koda na iya yin aiki ba tare da sun kai shekara 10 ba. Duk da haka, idan aka yi musu magani yadda ya kamata, waɗannan yaran za su iya rayuwa har zuwa girma tare da ingantacciyar rayuwa.

2. Tsarin cystinosis (nau'in farawa na matasa)

Ana kuma kiran wannan da cystinosis na matasa ko na yara. Alamomin suna kama da na jarirai, amma alamun suna bayyana a ƙarshen ƙuruciya ko samartaka . Alamomin na iya zama masu sauƙi ko kuma suna iya yin tsanani akan lokaci.

Mutane masu irin wannan cutar cystinosis a ƙarshe za su buƙaci a yi musu dashen koda. Idan ba a yi musu magani ba, koda na iya yin aiki ba tare da sun yi aiki ba cikin shekaru 15-25 .

3. Cystinosis wanda ba shi da nephropathy (nau'in da ke shafar idanu kawai)

Wannan kuma ana kiransa benign cystinosis, ko kuma cystinosis na ido. Wannan nau'in yana shafar idanu ne kawai . Lu'ulu'u na cystine suna samuwa a cikin cornea na ido, wanda ke haifar da photophobia. Duk da haka, yawancin mutanen da ke da wannan nau'in ba su da lalacewar koda ko wasu alamu .

Shekarun da ake gano wannan yanayin (cystinosis wanda ba shi da alaƙa da nephropathy) na iya bambanta, domin alamun ba su da yawa. Duk da haka, yawanci yana shafar manya masu matsakaicin shekaru.

Wanene ke samun cystinosis?

Cystinosis cuta ce ta kwayoyin halitta wadda za ta iya shafar kowa . Ana gadon cutar ne ta hanyar tsarin autosomal recessive. Wannan yana nufin cewa iyaye biyu dole ne su ɗauki kwayar halittar da aka canza don cutar . Idan iyaye biyu suna ɗauke da kwayar halittar da aka canza (ma'ana ba su da alamun cutar, amma suna da kwayar halittar), suna da kashi 25% (ɗaya cikin huɗu) na samun ɗa da ke ɗauke da cystinosis.

Yaya wannan cuta ta yaɗu?

Cutar Cystinosis cuta ce da ba kasafai ake samunta ba a duniya. A duk duniya, tana shafar mutum ɗaya ne kawai cikin haihuwa 100,000 zuwa 200,000.

Ta yaya cystinosis ke shafar jikinmu?

Cystinosis cuta ce da ke cikin rukunin cututtuka da ake kira `(cutar ajiyar lysosomal)`. Ka yi tunanin, a cikin ƙwayoyin halittarmu akwai ƙananan ƙwayoyin halitta da ake kira `(lysosomes)` . Waɗannan kamar gwangwanin sharar tantanin halitta ne. Suna wargaza sinadarai masu gina jiki kamar carbohydrates, sunadarai, da mai. Wasu furotin suna aiki kamar `(enzymes)` kuma suna taimaka wa jiki ya sha waɗannan sinadarai masu gina jiki. Wasu wasu sunadarai suna aiki kamar `(transporters)`. Wato, waɗannan masu jigilar suna ɗaukar ragowar `(cystine)` daga waɗannan abubuwa da suka lalace daga cikin lysosomes.

Yanzu, idan ka rasa ɗaya daga cikin waɗannan sunadaran jigilar, `(cystine)` ba zai iya fita daga cikin lysosomes ba kuma ya fara taruwa a cikin ƙwayoyin halitta. A lokacin ne `(cystine)` ke samar da tarin abubuwa, waɗanda ke lalata gabobin jiki.

Mene ne alamun cystinosis?

Alamomin cutar da tsananinsu sun bambanta dangane da shekarun da cutar ta fara da kuma lokacin da aka gano ta.

Alamomin cystinosis na jarirai (wanda ake kira nephropathic cystinosis) yawanci suna fara bayyana tsakanin watanni 6 zuwa 18 , lokacin da kodan suka lalace. Waɗannan su ne manyan alamun:

• Kishirwa mai yawa (polydipsia).
• Yawan fitsari (polyuria).
• Rashin daidaituwar electrolyte a jiki.
• Amai.
• Rashin ruwa.
• Zazzaɓi.

Sauran alamun na iya haɗawa da:

• Raunana ƙasusuwa, rickets.
• Rashin bunƙasa.
• Tabo ko girgizawar cornea na idanu.
• Jin zafi ga haske (photophobia).
• Rashin gani.
• Wahalar haɗiyewa (dysphagia).

Alamomin cystinosis na tsakiya (nau'in matasa) suna kama da na jarirai. Duk da haka, suna fara bayyana a ƙarshen ƙuruciya ko samartaka. Haka kuma, alamun na iya zama ƙasa da tsanani. Sauran alamun da za a iya gani a cikin wannan siffar sun haɗa da:

• Gajiya, gajiya.
• Raunin tsoka.
• Ciwon tsoka `(myopathy)` (myopathy).
• Gajeren tsayi.
• Jinkirin balaga.
• Rashin haihuwa.

Cystinosis na ido (wanda ba shi da nephropathy) yana shafar cornea na ido ne kawai. Cystonia yawanci shine kawai alamar . Babu alamun da ke da alaƙa da koda.

Mene ne ke haifar da cystinosis?

Wannan ya faru ne saboda maye gurbi a cikin kwayar halittar da ake kira CTNS.Wannan kwayar halittar `(CTNS)` tana umurtan jikinmu da ya samar da furotin da ake kira `(cystinosin)`. `(Cystinosin)` ita ce furotin mai jigilar kaya da aka ambata a baya. Wato, aikinsa shine cire amino acid `(cystine)` daga cikin lysosomes.

Don haka, idan akwai wani canji a cikin kwayar halittar `(CTNS)`, akwai lahani a cikin furotin `(cystinosin)`. Sannan, `(cystine)` ba zai iya fita daga cikin lysosomes ba kuma ya fara taruwa. A lokacin ne cysts ɗin ke samuwa kuma suna lalata ƙwayoyin halitta a cikin gabobin jiki.

An daɗe ana cewa ana gadon wannan a cikin "tsarin recessive na autosomal". Wannan yana nufin cewa dole ne iyaye biyu su kasance masu ɗauke da wannan kwayar halittar da aka canza (ba su da alamun cutar) . Sai idan iyaye biyu suka gaji wannan kwayar halittar da aka canza ne yaron zai kamu da wannan cutar.

Ta yaya ake gane cystinosis?

Likitan ku zai tambaye ku game da alamomin cutar da tarihin lafiyar iyalinku. Sannan zai yi gwajin lafiyar jiki sannan ya ba da umarnin gwaje-gwaje da dama don gano cutar.

Wadanne gwaje-gwaje ake yi don wannan?

Likitan zai iya yin waɗannan gwaje-gwajen:

• Gwajin jini: Ana ɗaukar samfurin jininka kuma ana duba matakin cystine a cikin farin ƙwayoyin jini.
• Gwajin Halittar Halitta: Masanin kwayoyin halitta zai duba don ganin maye gurbi a cikin kwayar halittar CTNS ɗinku.
• Binciken fitsari: Ana ɗaukar samfurin fitsari kuma a duba ko akwai ma'adanai, abubuwan gina jiki, gishiri, da amino acid da suka wuce kima.
• Gwajin Ido: Likitan ido zai yi amfani da na'urar hangen nesa ta musamman (fitilar yankewa) don neman lu'ulu'u na cystine a cikin cornea.

Idan kina da juna biyu kuma wani a cikin iyalinki yana da cutar cystinosis, kuma an gano ke da abokin tarayya a matsayin mai ɗauke da cutar, ana iya yin gwajin ciki kafin haihuwa, kamar amniocentesis, don gano ko jaririnki yana da cutar . Wannan ya ƙunshi ɗaukar samfurin ƙwayoyin halitta daga ruwan amniotic da ke kewaye da jaririn da kuma duba matakin cystine.

Ana iya amfani da wani gwaji mai suna "chorionic villus sampling". Wannan yana gwada ƙwayoyin da ke cikin mahaifa.

Menene hanyoyin magance cystinosis?

Maganin da ake kira Cysteamine

Babban maganin cystinosis shine magani mai suna cysteamine . Wannan magani ne mai rage cystine. Wannan yana nufin yana rage matakan cystine a cikin ƙwayoyin halittar ku.

Idan aka fara wannan maganin `(cysteamine)` da wuri, za a iya shawo kan lalacewar koda sosai kuma a jinkirta ta.Wannan maganin ya taimaka wajen jinkirta buƙatar dashen koda. Wasu yara sun sami damar jinkirta dashen koda har zuwa lokacin da suka girma. Haka kuma, wannan maganin yana inganta ci gaban yara masu fama da cutar.

Akwai nau'ikan `(Cysteamine)` guda biyu: `(Cystagon™)` da `(Procysbi™)` (waɗannan sunayen sunaye ne). `(Cystagon™)` ya kamata a sha duk bayan sa'o'i shida. `(Procysbi™)` (ga waɗanda suka wuce shekaru 6) yana da wani shafi na musamman, don haka ana iya sha duk bayan sa'o'i 12.

Maganin da aka saba amfani da shi na '(cysteamine)' ba ya magance lu'ulu'u na '(cystine)' a cikin ido. Don haka, akwai nau'ikan digo biyu na ido na '(cysteamine)' wanda Hukumar Abinci da Magunguna ta Amurka ta amince da shi (FDA): '(Cystara™)' da '(Cystadrops™)'. Ya kamata a shafa waɗannan digo sau ɗaya a cikin awa ɗaya yayin da kake farkawa. Suna narkar da lu'ulu'u a cikin ido kuma suna rage yawan haske.

Sauran jiyya

Yara masu fama da cystinosis na iya buƙatar wasu magunguna, dangane da alamunsu. Maganin cutar Fanconi sun haɗa da:

• Sha ruwa da sinadarin electrolytes mai yawa (don hana yawan zubar ruwa daga jiki).
• Magani don kula da daidaiton gishirin jiki.
• Magani don gyara lahani a cikin shan sinadarin phosphate ta hanyar kodan.

Sauran hanyoyin magance cystinosis sun haɗa da:

• Maganin hormone na girma.
• Idan kana da ciwon suga da ya dogara da insulin, kana buƙatar insulin.
• Testosterone ga maza masu fama da hypogonadism.
• Maganin magana da harshe.
• Shawarwari kan kwayoyin halitta.

Wasu yara da ke fuskantar matsalar cin abinci na iya buƙatar a ba su abinci ta bututu (bututun gastronomy). Ana amfani da wannan bututun don samar da abinci mai kyau da kuma ba da magunguna.

Ana iya magance cystinosis na ido, wanda ke shafar idanu kawai, ta hanyoyi kamar haka:

• Gujewa haske mai haske.
• Sanya tabarau masu haske.
• Kiyaye idanu da danshi.
• Ba kasafai ake buƙatar dashen cornea ba.

Dashen koda

Ko da da gano cutar da wuri da kuma magani, mutanen da ke fama da cutar nephropathy da kuma matsakaiciyar cystinosis a ƙarshe suna fuskantar matsalar koda. Da farko, likitanka zai iya magance matsalar koda ta hanyar dialysis. Dialysis na'ura ce da ke ɗaukar wasu daga cikin ayyukan da kodanka ke yi. Yana tace sharar gida daga jininka kuma yana taimakawa wajen kiyaye matakan da suka dace na wasu sinadarai a jikinka. Duk da haka, matsalar koda ba za ta iya canzawa ba, kuma a ƙarshe ana buƙatar dashen koda .

Dashen koda yana da matuƙar nasara ga mutanen da ke fama da cystinosis. Koda da aka bayar ba ya tara cystine . Duk da haka, cystine har yanzu yana iya taruwa a cikin wasu gabobin jikinka. Saboda haka, dole ne ka sha magani har tsawon rayuwarka .

Akwai wasu illoli na maganin?

Maganin `(cysteamine)` yana da ɗan wari mara daɗi da ɗanɗano mara daɗi . Saboda haka, wasu mutane na iya fuskantar tashin zuciya, amai, da ƙwannafi lokacin shan wannan maganin. `(cysteamine)` kuma yana iya haifar da yawan sinadarin acid a cikin ciki. Wasu mutane suna shan magunguna kamar `(proton pump inhibitors)` don rage sinadarin acid a cikin ciki. Wannan na iya rage alamun ciwon ciki. `(cysteamine)` kuma yana iya haifar da warin baki `(halitosis)` da warin baki.

Za a iya hana cystinosis?

Cystinosis cuta ce ta kwayoyin halitta, don haka ba za a iya hana ta ba . Idan kina da juna biyu ko kuma kina shirin yin ciki, kina iya yin la'akari da gwajin kwayoyin halitta don gano ko jaririnki yana cikin haɗarin kamuwa da cutar.

Menene hasashen wanda ke da cutar cystinosis? / Har yaushe zai iya rayuwa?

A wani lokaci, cutar nephropathy cuta ce mai kisa ga yara ƙanana. Amma a yau, tare da haɓakar maganin cysteamine da kuma ci gaban dashen koda, tsawon rayuwar mutanen da ke fama da cutar cystinosis ya ƙaru zuwa girma . Wasu mutane suna rayuwa har zuwa sama da shekaru 50.

Gano cutar cystinosis da wuri yana da mahimmanci. Da zarar an yi maganin da ya dace, za a iya shawo kan cutar. Idan ba a yi maganinta ba, yara masu fama da cutar cystinosis za su fuskanci matsalar koda kafin su kai shekara 10. Ko da tare da magani, yara da yawa za su fuskanci matsalar koda a ƙarshen ƙuruciya ko samartaka. Wannan zai buƙaci dialysis da kuma dashen koda daga ƙarshe.

Idan ka sha cysteamine, kana buƙatar ci gaba da shan sa har abada . Bincike ya nuna cewa yana iya hana yawancin matsalolin da ke tattare da cystinosis waɗanda ba su da alaƙa da kodan.

A ƙarshe, abubuwan da za a tuna

Cystinosis wata cuta ce ta kwayoyin halitta wadda za ta iya haifar da alamomi iri-iri. Idan aka gano ta da wuri kuma aka yi mata magani da sauri, za a iya shawo kan ci gaban cutar sosai . Da zarar ta yi sanadiyyar mutuwar yara ƙanana, yanzu ana iya magance wannan cutar da magani. Ko da tare da magani, mutanen da ke da cutar cystinosis a ƙarshe suna fuskantar gazawar koda kuma suna buƙatar dashen koda. Duk da haka, mutanen da ke da cutar yanzu suna rayuwa har zuwa lokacin girma.

Idan kai ko wani da ka sani yana da waɗannan alamun, yana da matuƙar muhimmanci a nemi shawarar likita nan take.Kada ku damu, amma yana da kyau kowa ya san abubuwa kamar haka.

` cystinosis, cystine, cutar koda, matsalar kwayoyin halitta, ciwon Fanconi, cysteamine, cutar koda, cutar kwayoyin halitta, lafiyar yara