Niemann-Pick cutar wani yanayi ne mai ƙwayar cuta. Akwai bambance-bambance hudu na wannan cuta, wanda aka tsara a matsayin nau'in A, irin B, type C, da kuma rubuta D. Niemann-Pick cuta yana haifar da matsalolin kiwon lafiya, kuma yana cigaba da sauri. Kwayoyin cututtuka da sakamakon dukkanin bambance-bambance na cutar Niemann-Pick ya haifar da ƙaddamar da sphingomyelin, irin kitsen, a jiki.
Abin takaici, babu magani na musamman ga cutar Niemann-Pick, kuma mutanen da ke fama da cutar suna fama da rashin lafiya da mutuwa a ƙuruciyarsu. Idan an gano ko yaronka tare da cutar Niemann-Pick, za ka iya amfana da sanin duk yanayin da zai yiwu.
Dalilin
Dalilin Niemann-Pick cutar yana da matukar rikitarwa. Mutanen da ke da wannan cuta suna da gado daya daga cikin cututtukan kwayoyin halitta, wanda ya haifar da ginawa na sphingomyelin, irin kitsen. Yayin da sphipomyelin ke gina cikin hanta, yalwa, kasusuwa, ko tsarin jiki, wadannan yankuna na jiki ba zasu iya aiki kamar yadda ya kamata ba, wanda ya haifar da wani alamun bayyanar cututtuka wanda ke da alamun cutar.
Iri
Nau'o'in Niemann-Pick cuta sun bambanta da juna a hanyoyi da dama.
- Suna lalacewa ta hanyar lahani daban-daban.
- Dukansu suna da nau'o'i daban-daban hanyoyin tafiyar da kwayoyin halitta waɗanda suke sa sphingomyelin ya gina.
- Rashin wucewar sphingomyelin yana shafar sassa daban daban na jiki.
- Suna farawa a shekaru daban-daban.
- Sakamakon kowane nau'i ba iri ɗaya bane.
Abin da suke da shi a cikin kowa shi ne cewa dukkanin cututtukan kwayoyin dake haifar da matsanancin sphingomyelin.
Niemann-Pick Type A
Rubutun A fara fara bayyanar cututtuka a lokacin ƙuruciya kuma an dauke shi da bambanci mafi tsanani daga cutar Niemann-Pick.
Har ila yau, daya daga cikin bambance-bambancen da ya shafi tsarin jin tsoro .
- Kwayoyin cututtuka: Sakamakon bayyanar sun fara a cikin watanni shida da suka hada da: jinkirin ƙarfin jiki, ƙananan tsokoki da raunin muscle rauni, cin abinci cin abinci, matsalolin numfashi da jinkiri ko jinkirta ci gaban halayyar ƙwarewa kamar su zaune da magana. Sau da yawa, jarirai da Niemann-Pick type A ci gaba kullum ko kusan al'ada ga 'yan watanni na farko na rayuwa sannan kuma fara samun alamun bayyanar.
- Sanin asali: Idan yaronka ba a tasowa akai-akai ba, za'a iya samun ƙididdiga masu yawa. Yaran da yawa suna da nau'in Niemann-Pick type A suna da babban yalwa da babban hanta, ƙananan ƙwayar cholesterol, da kuma jan kirar da ake gani a kan idanun ido. Wadannan alamu basu tabbatar da ganewar asali ba, duk da haka. Idan likitanku yana zaton Niemann-Pick type A shine dalilin yarinyar jaririn, akwai wasu gwaje-gwaje da suka tabbatar da cutar. Acid Sphingomyelinase ana sa ran za a ragu, kuma wannan matakin za'a iya aunawa a cikin jinin fararen fata. Akwai kuma jarabawar jinsin da za a iya gano irin wannan nau'in mahaukaci.
- Jiyya: Idan an jarraba jariri tare da Niemann-Pick type A, babu magani fiye da goyan baya da ta'aziyya. Abin takaici, yara da wannan cuta ba sa sa ran su tsira fiye da shekaru 3 ko 4.
- Dalilin: Niemann-Pick type A ana haifar da rashin daidaituwa da wani nau'in da ake kira jigidar SMPD1. Wannan tsarin kwayoyin halitta don samar da sphingomyelinase, wani enzyme wanda ya rushe sphingomyelin, mai mai da ke nunawa a cikin jikin jikin. Lokacin da ba za'a iya rushe sphingomynein kamar yadda ya kamata ba, sel a cikin jiki sun tara shi, kuma kasancewar wannan kitsen mai ya hana gabobin daga aiki akai-akai.
- Genetics: Wannan cututtuka yana da hanzari, wanda ke nufin cewa yarinya dole ne ya karbi raguwa daga iyayen biyu domin rashin lafiya ya ci gaba. Mutanen Ashkenazi Yahudawa suna da babbar dama na samun wannan yanayin.
Niemann-Pick Type B
Bisa ƙwayar B ana daukar nau'in cuta na Niemann-Pick fiye da nau'in A. Ana haifar da irin wannan nau'in kwayar halitta, wanda zai haifar da raunin sphingomyelinase. Kyakkyawan bambanci tsakanin nau'in A da na B yana cewa mutanen da suke da nau'in B suna iya samar da ƙarin sphingomyelinase fiye da mutanen da suke da nau'in A. Wannan bambanci yana haifar da ƙananan kayan aiki, wanda zai iya zama akalla asusun ajiya na tsofaffi a wanda nau'in B ya fara, sakamakon mafi kyau, da kuma tsawon rayuwa. Ba ya bayyana cikakkiyar dalilin da ya sa irin A, yayin da aikin bincike ba shi da samuwa a cikin irin B.
- Kwayar cututtuka : Jigilar cututtuka farawa a lokacin girma kuma zai iya hada da hanta mai haɗari, babban ƙwaƙwalwa, matsaloli na numfashi, da zub da jini. Manya tsofaffi yana da kyakkyawan sakamako kuma ya fi tsayi fiye da matasa waɗanda ke da wannan bambancin cutar.
- Binciken asali : Kamar yadda yake tare da nau'in A, Acid Sphingomyelinase an rage a cikin kukan jini, kuma gwajin kwayoyin cutar ga SMPD1 na iya tabbatar da cutar. Za a iya ɗaukar nauyin jini na cholesterol da triglycerides. Wasu mutanen da ke da Niemann-Pick type B na iya samun wuri mai dadi a kan binciken ido.
- Jiyya : Akwai magani da yawa don Niemann-Pick type B, amma basu maganin cutar ba. Wadannan sun hada da jini da fassarar platinus da taimako na numfashi. Tsarya na jiki zai iya taimakawa wajen wanzuwa rayuwa kuma rage cututtukan cutar, amma kuma ba magani bane.
- Dalilin : Niemann-Pick type B yana haifar da lahani a cikin hanyar SMPD1, wanda zai haifar da rage yawan samar da Acid Sphingomyelinase, wanda ya sa sphingomyelin ya gina a cikin kwayoyin, wanda hakan ya sa ya yi aiki tare da kwayoyin da dama a jikin.
- Genetics : Duk irin nau'ikan Niemann-Pick cutar sune jinkirta, ciki har da na B. Wasu mutane suna iya samun Niemann-Pick type B, ciki har da mutanen Ashkenazi Yahudawa ko wadanda suka fito daga wasu yankuna a Arewacin Afrika.
Niemann-Pick Type C
Niemann-Pick type C shine mafi yawan bambancin wannan cututtukan, amma har yanzu yana da wuya, tare da kimanin 500 mutanen da aka kamu da cutar a kowace shekara a duniya.
- Kwayar cututtuka : Alamar cututtuka na Niemann-Pick type C zai iya farawa a kowane zamani, amma kullum fara a ƙuruciya. Wadannan cututtuka sun haɗa da jinkirin ilmantarwa, raunin tsoka da kuma rage daidaituwa. Wadannan matsalolin zasu fara bayan fasaha an riga an tasowa akai-akai don 'yan shekaru. Yara da Niemann-Pick type C na iya rasa ikon yin duba sama da ƙasa tare da idanuwansu kuma zasu iya samar da launin fatar launin fata. Matsala magana da tafiya zai iya ci gaba, tare da damuwa. Rashin haɗari da tsokoki, da kuma asarar asarar tsohuwar murya ta hanyar mayar da martani ga motsin zuciyar kirki duk sakamakon sakamako ne na kwakwalwa.
- Sanin asali : Yara da manya da Niemann-Pick type C na iya samun hanta mai girma, da kuma kara girma da ƙwayar cuta, da kuma cutar huhu. Sakamakon ganewar Niemann-Pick type C ya dogara ne akan tarihin asibitin da jarrabawa na jiki, da gwaji da ake kira gwajin gwaji, wanda zai iya gano cholesterol a cikin fata. Kwarar gwaji na iya gano lahani a cikin NPC1 da NPC2 kwayoyin.
- Jiyya : Babu magani don Niemann-Pick type C. An yi gyaran magani don kawar da bayyanar cututtukan, samar da ciwo mai zafi, da kuma ƙarfafa zuciya.
- Dalilin : Neimann-Pick type C yana da bambanci daga nau'in A da B. Akwai ƙananan sunadaran da suke haɗuwa da canja wuri da kuma aiki na sphingomeylin. Wadannan lalacewar sunadaran sun haifar da haɗuwa da sphingomyelin, wanda daga bisani ya gina jiki a jikin da yawa, yana haifar da bayyanar cututtuka.
- Genetics : Lahani na ko dai NPC1 ko NPC2 na haifar da siffar ƙwayar ƙarancin gina jiki na Niemann-Pick type C. Kamar yadda sauran nau'o'in Niemann-Pick cutar, wannan mummunar cututtuka ne wanda yake nufin cewa yaro ko babba tare da cuta dole ne ya gaji kwayoyin daga iyaye biyu (wadanda ba su da cutar da kansu).
Niemann-Pick Type D
Wannan bambance-bambance ne a wasu lokuta ana la'akari da irin cutar daya ne a matsayin nau'in C. An fara gane shi a cikin ƙananan ƙananan jama'a a Nova Scotia, kuma sun yi la'akari da bambancin Niemann-Pick cuta, amma tun daga wannan lokacin an gano wannan rukuni iri guda cututtuka da cututtuka na Niemann-Pick type C.
Bincike
Akwai bincike na ci gaba a kan hanyoyin maganin Niemann-Pick cuta. An yi nazarin ilimin maye gurbin marasa lafiya. A halin yanzu, irin wannan farfadowa kawai yana samuwa ta wurin shiga cikin gwaji na asibiti. Zaka iya samun bayani game da yadda zaka shiga cikin gwaji ta hanyar tambayar likitanka ko ta hanyar tuntuɓar kungiyoyin Niemann-Pick da kungiyoyin tallafi.
Kalma Daga
Niemann-Pick cuta na haifar da wasu alamun bayyanar cututtukan da ke tsangwama ga samun rayuwa ta al'ada, kuma yana haifar da rashin jin daɗi, ciwo da nakasa. Yana da matukar damuwa ga dukan iyalin lokacin da irin wannan rashin lafiya ya zama wani ɓangare na rayuwarku.
Idan an gano ko yaronka tare da cutar Niemann-Pick, ƙaddarar rai yana nufin cewa iyalinka dole ne su sami goyon bayan goyan baya, da kuma masu sana'a da yawa don samar da kulawa da yawa. Saboda rashin lafiya ne, za ku iya buƙatar bincika masu sana'a waɗanda suka shahara a samar da ayyukan da kuke bukata.
> Source:
> Schuchman EH, Desnick RJ. Types A da B Niemann-Pick cuta. Mol Genet Metab. 2017; 120 (1-2): 27-33.