Ciwon mara

Cutar Gaucher cuta ce mai saurin yaduwa a cikin mutum wanda ba shi da enzyme da ake kira glucocerebrosidase (GBA).

Cutar cutar Gaucher ba safai ake samu ba a cikin jama'a. Mutanen Yammacin Turai da Tsakiyar Turai (Ashkenazi) al'adun gargajiyar yahudawa suna iya samun wannan cutar.

Yana da wani autosomal recessive cuta. Wannan yana nufin cewa uwa da uba dole ne dukansu su mika kwaya kwaya daya mara kyau ga dan su dan ya kamu da cutar. Mahaifin da ke ɗauke da kwafin kwayar halitta ba daidai ba amma ba shi da cutar ana kiransa mai ɗaukar shiru.

Rashin GBA yana haifar da abubuwa masu haɗari don haɗuwa a cikin hanta, baƙin ciki, ƙashi, da ƙashi. Wadannan abubuwa suna hana kwayoyin halitta da gabobi aiki yadda ya kamata.

Akwai manyan nau'i uku na cutar Gaucher:

• Nau'in 1 yafi kowa. Ya ƙunshi cutar ƙashi, ƙarancin jini, ƙara girman ciki da ƙaramin platelet (thrombocytopenia). Nau'in na 1 ya shafi yara da manya. An fi yawaita a cikin yahudawan Ashkenazi.
• Nau'in na 2 yawanci yakan fara ne tun yana ƙuruciya tare da ɗaukar ƙwayoyin cuta mai tsanani. Wannan nau'i na iya haifar da saurin sauri.
• Nau'in na 3 na iya haifar da hanta, saifa, da matsalar kwakwalwa. Mutanen da ke da irin wannan na iya rayuwa har su zama manya.

Zub da jini saboda ƙarancin ƙarancin platelet shine mafi yawan alamun da ake gani a cutar Gaucher. Sauran cututtuka na iya haɗawa da:

• Ciwo da karaya
• Rashin hankali (rage ƙarfin tunani)
• Sauƙaƙewa mai sauƙi
• Pleara girman ciki
• Liverara hanta
• Gajiya
• Matsaloli na bugun zuciya
• Ciwon huhu (m)
• Kamawa
• Tsananin kumburi lokacin haihuwa
• Canjin fata

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki kuma ya yi tambaya game da alamun.

Za a iya yin gwaje-gwaje masu zuwa:

• Gwajin jini don neman aikin enzyme
• Burin kasusuwa
• Biopsy na baƙin ciki
• MRI
• CT
• X-ray na kwarangwal
• Gwajin kwayoyin halitta

Ba a iya warkar da cutar mai ƙarancin jini. Amma jiyya na iya taimakawa wajen sarrafawa kuma na iya inganta alamomin.

Za a iya ba da magunguna ga:

• Sauya GBA da ta ɓace (maganin maye gurbin enzyme) don taimakawa rage girman saifa, ciwon ƙashi, da inganta thrombocytopenia.
• Iyakance samar da sinadarai masu ƙanshi waɗanda ke taruwa a jiki.

Sauran jiyya sun hada da:

• Magunguna don ciwo
• Yin tiyata don matsalolin ƙashi da haɗin gwiwa, ko cire saifa
• Karin jini

Wadannan rukunin kungiyoyin na iya samar da karin bayani kan cutar Gaucher:

• Gidauniyar Gaucher ta kasa - www.gaucherdisease.org
• Makarantar Magunguna ta Magunguna, Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/gaucher-disease
• Nationalungiyar forasa don Rare Cututtuka - rarediseases.org/rare-diseases/gaucher-disease

Yaya mutum yake yi ya dogara da ƙaramin nau'in cutar. Halin jarirai na cutar Gaucher (Nau'in 2) na iya haifar da mutuwar wuri. Yawancin yara da abin ya shafa suna mutuwa kafin su kai shekaru 5.

Manya tare da nau'in 1 na cutar Gaucher na iya tsammanin tsammanin rayuwa ta yau da kullun tare da maganin maye gurbin enzyme.

Matsalolin cutar Gaucher na iya haɗawa da:

• Kamawa
• Anemia
• Kwayoyin cuta
• Matsalolin ƙashi

Ana ba da shawara kan kwayar halitta don iyaye masu zuwa da tarihin iyali na cutar Gaucher. Gwaji na iya tantancewa idan iyaye na ɗauke da kwayar halittar da zata iya ratsa cutar Gaucher. Hakanan gwajin haihuwa zai iya tabbatar da cewa jaririn da ke cikin ciki yana da cutar Gaucher.

Glucocerebrosidase rashi; Glucosylceramidase rashi; Cutar cututtukan Lysosomal - Gaucher

• Burin kasusuwa
• Kwayar Gaucher - photomicrograph
• Kwayar Gaucher - hoto mai daukar hoto # 2
• Ciwon ciki

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.

Krasnewich DM, Sidransky E. Lysosomal cututtukan ajiya. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier; 2020: babi 197.

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.