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

Shin kun taɓa jin labarin wani abu da ake kira Niemann-Pick Disease? Wataƙila wannan sunan sabon abu ne a gare ku. A zahiri cuta ce ta gado da ba kasafai ake samu ba, wadda ke yaɗuwa a cikin iyalai. Yana sa wasu muhimman abubuwa a jikinmu, musamman lipids, su taru ba tare da iko ba. Don haka bari mu yi magana game da wannan cuta a yau, ko?

Menene Cutar Niemann-Pick?

A taƙaice dai, cutar Niemann-Pick yanayi ne da lipids, kamar mai, fatty acids, da cholesterol, ke taruwa a cikin ƙwayoyin halittarmu maimakon a wargaza su yadda ya kamata a mayar da su kuzari. Waɗannan su ne matsalolin da suka shafi metabolism , ma'ana ana iya yada su daga iyaye zuwa ga yara. Ta wannan hanyar, lipids masu cutarwa suna taruwa a wurare kamar kwakwalwa, saifa, hanta, huhu, da kuma ƙashi.

Mene ne alamomin wannan cuta da aka saba gani?

Idan kitse ya taru ta wannan hanyar, alamu daban-daban na iya bayyana. Wasu mutane suna fuskantar matsaloli da suka shafi tsarin jijiyoyi.

• Ataxia: Wannan shine rashin iya sarrafa tsokoki yayin motsi da gangan, misali, tafiya.
• Rage ƙarfin tsoka.
• Rage aikin kwakwalwa a hankali.
• Rashin jin daɗi idan aka taɓa.
• Jinkirin tsoka: Wannan yana nufin cewa tsokoki suna tauri kuma suna motsawa ba daidai ba.
• Tuntuɓe yayin magana.

Bugu da ƙari, akwai wahalar cin abinci da haɗiyewa, gurguwar ido, nakasa koyo, da faɗaɗa hanta da saifa. Wani lokaci, akwai yiwuwar samun gajimare na cornea da kuma halo mai launin ja a tsakiyar retina.

Akwai manyan nau'ikan cutar Niemann-Pick?

Eh, akwai manyan nau'ikan wannan cuta guda uku: nau'in A, B, da C.

Nau'in A:

Wannan ita ce mafi tsananin nau'in cutar. Yawanci tana shafar jarirai ƙanana, yawanci kafin su kai watanni kaɗan . Ya zama ruwan dare musamman a cikin iyalan Yahudawa.

• Alamomin su ne rashin sani a hankali.
• Hanta da saifa suna ƙara girma.
• Kumburin lymph yana kumbura.
• Da watanni shida, mummunan lalacewar kwakwalwa na iya faruwa.

Abin baƙin ciki, waɗannan jarirai na nau'in A ba kasafai suke rayuwa sama da watanni 18 ba a matsakaici.

Nau'in B:

Wannan yawanci yana bayyana ne a lokacin yarinta, kusan shekara goma ko goma sha biyu .

• Waɗannan mutane na iya fuskantar alamu kamar ataxia da neuropathy na gefe.
• Amma a mafi yawan lokuta, ba shi da wani tasiri sosai ga kwakwalwa.
• Waɗannan mutanen kuma suna iya fuskantar faɗaɗa hanta da saifa da kuma matsalolin huhu.

Dalilin nau'ikan A da B:

Babban dalilin ci gaban waɗannan nau'ikan guda biyu shine cewa enzyme sphingomyelinase , wanda ke taimakawa wajen wargaza lipid da ake kira sphingomyelin, wanda ke cikin kowace ƙwayar jikinmu, ba ya aiki yadda ya kamata. Sakamakon haka, lipid da ake kira sphingomyelin yana taruwa a cikin ƙwayoyin halitta a adadi mai guba.

Nau'in C:

Wannan nau'in na iya farawa tun yana ƙarami, ko kuma yana iya bayyana a lokacin ƙuruciya ko girma .

• Wannan yana faruwa ne sakamakon karancin furotin guda biyu da ake kira NPC1 ko NPC2 .
• Waɗannan mutane na iya samun mummunan lalacewar kwakwalwa, wanda zai iya haifar da wahalar kallon sama da ƙasa, wahalar tafiya da haɗiyewa, da kuma rashin gani da ji a hankali.
• Hanta da saifa kuma za a iya ƙara girmansu kaɗan.
• A da, mutanen da ke cikin wannan nau'in C, waɗanda suka fito daga asalin kakanninsu iri ɗaya a yankin da ake kira Nova Scotia, ana kiransu nau'in D. Amma yanzu yana ƙarƙashin nau'in C.

Akwai magani ga wannan?

A gaskiya ma, babu maganin cutar Niemann-Pick. A halin yanzu, akwai magunguna masu tallafi kawai waɗanda ke sarrafa alamun cutar kuma suna ba da sauƙi. Sau da yawa, waɗannan yaran na iya rasa rayukansu saboda kamuwa da cuta ko kuma raunin tsarin jijiyoyi a hankali.

• A halin yanzu babu wani magani mai inganci ga waɗanda ke da nau'in A.
• Wasu mutanen da ke da Nau'in B an yi musu dashen ƙashi . Masu bincike sun kuma yi imanin cewa abubuwa kamar maganin maye gurbin enzyme da maganin kwayoyin halitta na iya zama da amfani ga mutanen da ke da Nau'in B a nan gaba.
• Sarrafa abin da kuke ci da abin sha ba zai iya hana waɗannan nau'ikan kitsen taruwa a cikin ƙwayoyin halitta da kyallen takarda ba.

Menene makomar cutar?

Makomar wannan cuta, wato tsawon lokacin da majiyyaci zai iya rayuwa da kuma yadda rayuwarsa za ta kasance, ya bambanta dangane da nau'in cutar.

• Jarirai masu fama da nau'in A , kamar yadda aka ambata a baya, suna mutuwa tun suna ƙanana .
• Yara masu fama da nau'in B na iya rayuwa na ɗan lokaci fiye da sauran, amma suna iya buƙatar a ba su ƙarin iskar oxygen saboda tasirin da ke kan huhu.
• Tsawon rayuwar mutanen da ke dauke da nau'in C ya bambanta. Wasu mutane na iya mutuwa a lokacin ƙuruciya, amma wasu mutanen da ke da alamun cutar ba su da tsanani za su iya rayuwa har zuwa girma .

Wane sabon bincike ne ke faruwa a kan wannan?

Ana gudanar da bincike kan cutar Niemann-Pick a sassa daban-daban na duniya, musamman a Cibiyar Kula da Cututtukan Jijiyoyi da Shanyewar Jijiyoyi ta Ƙasa (NINDS) da ke Amurka, da kumaCibiyoyi kamar Cibiyoyin Lafiya na Ƙasa (NIH) ne ke jagorantar wannan.

• Suna neman kwayoyin halitta da ke taimakawa wajen bunƙasa wannan cuta. Misali, sun gano kwayoyin halitta guda biyu masu lahani (NPC1 da NPC2) waɗanda ke haifar da nau'in Niemann-Pick C.
• Masana kimiyya suna kuma binciken hanyoyin da wannan tarin kitse ke lalata jiki.
• Ana kuma gudanar da bincike don gano alamun cutar , ko alamun da ke nuna akwai wata cuta, wadda za ta iya taimakawa wajen gano matsalolin ajiyar lipid da wuri. Ana fatan cewa waɗannan za su taimaka wajen inganta ganewar asali.

A ƙarshe, dole ne ka ce...

To, ina fatan za ku sami ra'ayi daga abin da muka tattauna game da cutar Niemann-Pick.

Ku tuna da wannan: Cutar Niemann-Pick wata cuta ce da ba kasafai ake samunta ba, wadda ake gado a matsayin cuta ta kwayoyin halitta wadda ke haifar da tarin kitse a jiki.

• Akwai manyan nau'ikan wannan cuta guda uku, A, B, da C , kowannensu yana da alamomi da tsanani daban-daban.
• Nau'in A shine mafi tsanani kuma yana shafar ƙananan jarirai. Nau'in B na iya bayyana a lokacin ƙuruciya, kuma nau'in C na iya bayyana a kowane zamani.
• Har yanzu babu cikakken magani ga wannan , sai dai magunguna masu taimako waɗanda ke magance alamun cutar.
• Amma bincike yana ci gaba da neman sabbin magunguna.
• Idan wani a cikin iyalinka yana da waɗannan alamun, ko kuma idan kana son ƙarin koyo game da wannan cutar, ya fi kyau ka ga ƙwararre don neman shawara . Hakanan zaka iya duba ƙungiyoyin tallafi da ƙungiyoyi waɗanda ke taimaka wa mutanen da ke fama da waɗannan cututtuka masu wuya da iyalansu.

Muna fatan wannan bayanin zai amfane ku. Ku kasance cikin koshin lafiya!

Niemann -Cutar Pick, cututtukan kwayoyin halitta, tarin kitse, cututtukan yara, tsarin juyayi, cututtuka masu wuya