Niemann-Pick cuta

Niemann-Pick cuta (NPD) rukuni ne na cututtukan da aka ratsa ta cikin iyalai (waɗanda aka gada) a ciki wanda abubuwa masu ƙira da ake kira lipids suke tarawa a cikin ƙwayoyin hanta, hanta, da kwakwalwa.

Akwai nau'ikan nau'ikan cutar guda uku:

• Rubuta A
• Rubuta B
• Rubuta C

Kowane nau'i ya ƙunshi gabobin daban. Yana iya ko bazai haɗa da tsarin juyayi da numfashi ba. Kowane ɗayan na iya haifar da alamomi daban-daban kuma yana iya faruwa a lokuta daban-daban cikin rayuwa.

Nau'in NPD A da B na faruwa ne yayin da ƙwayoyin jiki ba su da enzyme da ake kira acid sphingomyelinase (ASM). Wannan sinadarin yana taimakawa wajen ruguza (metabolize) wani mai mai kiba mai suna sphingomyelin, wanda ake samu a kowace kwayar halitta ta jiki.

Idan ASM ya ɓace ko baya aiki yadda yakamata, sphingomyelin yana haɓaka cikin ƙwayoyin halitta. Wannan yana kashe ƙwayoyinku kuma yana sanya wuya ga gabobin suyi aiki yadda yakamata.

Nau'in A yana faruwa a cikin dukkan jinsi da ƙabila. Ya fi yawa a cikin yawan yahudawa na Ashkenazi (Yammacin Turai).

Nau'in C yana faruwa ne lokacin da jiki ba zai iya lalata cholesterol da sauran mai ba (lipids). Wannan yana haifar da yawan cholesterol a cikin hanta da saifa da kuma yawan ruwan leda a cikin kwakwalwa. Nau'in C ya fi yawa a tsakanin Puerto Ricans na asalin Sifen.

Nau'in C1 nau'ikan nau'ikan C. Ya ƙunshi lahani wanda ke rikitar da yadda cholesterol ke motsawa tsakanin ƙwayoyin kwakwalwa. Wannan nau'ikan kawai an ga shi a cikin Faransanci Kanada a Yarasar Yarmouth, Nova Scotia.

Kwayar cutar ta bambanta. Sauran yanayin kiwon lafiya na iya haifar da irin wannan alamun. Matakan farko na cutar na iya haifar da symptomsan alamu kaɗan. Mutum bazai taɓa samun duk alamun ba.

Nau'in A yawanci yakan fara ne a cikin fewan watannin farko na rayuwa. Kwayar cutar na iya haɗawa da:

• Ciki (yankin ciki) kumburi tsakanin watanni 3 zuwa 6
• Cherry jan wuri a bayan ido (a kan tantanin ido)
• Matsalolin ciyarwa
• Rashin ƙwarewar ƙwarewar farko (ya ƙara lalacewa a kan lokaci)

Nau'in alamun B yawanci suna da sauki. Suna faruwa ne a ƙarshen ƙuruciya ko shekarun samartaka. Kumburin ciki na iya faruwa ga yara ƙanana. Babu kusan kwakwalwa da tsarin kulawa, kamar asarar ƙwarewar motsi. Wasu yara na iya samun maimaita cututtukan numfashi.

Nau'in C da C1 galibi suna shafar yara ne masu zuwa makaranta. Koyaya, yana iya faruwa kowane lokaci tsakanin ƙuruciya zuwa yarinta. Kwayar cutar na iya haɗawa da:

• Matsalolin motsin rai da ke haifar da rashin saurin tafiya, rashin nutsuwa, matsalolin tafiya
• Pleara girman ciki
• Liverara hanta
• Jaundice a (ko jim kaɗan bayan) haihuwa
• Matsalar ilmantarwa da raguwar ilimi
• Kamawa
• Maganganu, maganganu marasa tsari
• Kwatsam asarar sautin tsoka wanda zai iya haifar da faɗuwa
• Girgizar ƙasa
• Matsalar motsa idanu sama da ƙasa

Za'a iya yin gwajin jini ko na kashin baya don tantance nau'ikan A da B. Gwajin na iya nuna wanda ke da cutar, amma bai nuna ko kai mai ɗauke da cutar ba ne. Ana iya yin gwajin DNA don tantance masu ɗauke da nau'ikan A da B.

Ana yin gwajin biopsy na fata don tantance nau'ikan C da D. Mai ba da kiwon lafiya yana lura da yadda ƙwayoyin fata ke girma, motsawa, da adana cholesterol. Hakanan ana iya yin gwajin DNA don neman kwayoyin halittar 2 da ke haifar da wannan cuta.

Sauran gwaje-gwaje na iya haɗawa da:

• Burin kasusuwa
• Kwayar biopsy (yawanci ba a buƙata)
• Tsaguwa-fitilar idanun ido
• Gwaji don bincika matakin ASM
  

A wannan lokacin, babu magani mai inganci ga nau'in A.

Ana iya gwada dasasshen kasusuwa don nau'ikan B. Masu bincike na ci gaba da nazarin yiwuwar magani, gami da maye gurbin enzyme da maganin jiyya.

Wani sabon magani da ake kira miglustat yana nan don samfuran tsarin juyayi na nau'in C.

Ana iya sarrafa babban cholesterol tare da ƙoshin lafiya, abinci mai ƙarancin cholesterol ko magunguna. Duk da haka, bincike bai nuna cewa waɗannan hanyoyin suna hana cutar ci gaba da taɓarɓarewa ko canza yadda ƙwayoyin ke lalata ƙwayar cholesterol. Akwai magunguna don sarrafawa ko sauƙaƙe alamomi da yawa, kamar ɓacewar ƙwayar tsoka da kamawa.

Waɗannan ƙungiyoyi na iya ba da tallafi da ƙarin bayani game da cutar Niemann-Pick:

• Cibiyar Nazarin Ciwon Lafiyar Jiji da Ciwan Gaji - www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
• National Niemann-Pick Cutar Gidauniyar - nnpdf.org
• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/niemann-pick-disease-type-c

Nau'in NPD A cuta ce mai tsanani. Yawancin lokaci yakan haifar da mutuwa ta shekaru 2 ko 3.

Waɗanda ke da nau'in B na iya rayuwa har zuwa ƙarshen ƙuruciya ko girma.

Yaron da yake nuna alamun nau'in C kafin ya cika shekara 1 ba zai iya yin shekaru zuwa makaranta ba. Wadanda suka nuna alamomi bayan sun shiga makaranta na iya zama cikin samartakarsu zuwa tsakiyarta. Wasu na iya rayuwa zuwa 20s.

Yi alƙawari tare da mai ba ku idan kuna da tarihin iyali na cutar Niemann-Pick kuma kuna shirin samun yara. Ana ba da shawarar shawarwarin kwayoyin halitta da nunawa.

Kirawo mai ba da sabis idan yaronku na da alamun wannan cutar, gami da:

• Matsalolin ci gaba
• Matsalar ciyarwa
• Rashin nauyin nauyi

Duk nau'ikan Niemann-Pick suna dawo da aiki ne. Wannan yana nufin cewa iyayen duka masu ɗauka ne. Kowane mahaifa yana da kwafin kwayar halitta guda 1 ba tare da alamun cutar kansu ba.

Lokacin da iyayen biyu ke dauke da kwayar cutar, akwai yiwuwar kashi 25% na dansu ya kamu da cutar da kuma kaso 50% na dansu ya zama mai dauke da su.

Gwajin gano dako zai yiwu ne idan an gano raunin kwayoyin halitta. An yi nazari sosai game da lahani da ke cikin nau'ikan A da B. Ana samun gwaje-gwajen DNA don wadannan nau'ikan na Niemann-Pick.

An gano lalatattun kwayoyin halitta a cikin DNA na mutane da yawa da ke da nau'in C. Zai yiwu a iya bincika mutanen da ke ɗauke da kwayar halittar da ba ta dace ba.

Fewan cibiyoyin bayar da gwaje-gwaje don tantance jaririn da ke cikin mahaifar.

NPD; Rashin ƙarancin Sphingomyelinase; Ciwon ajiyar lipid - cutar Niemann-Pick; Cutar cutar Lysosomal - Niemann-Pick

• Niemann-Pick kumfa

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM .. Laifi a cikin metabolism na lipids. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 104.

Turnpenny PD, Ellard S, Cleaver R. Kuskuren da aka haifa na metabolism. A cikin: Turnpenny PD, Ellard S, Cleaver R, eds. Abubuwan Emery na Kwayoyin Halitta da Tsarin Halitta. 16th ed. Philadelphia, PA: Elsevier; 2022: babi na 18.