Lefu la Gaucher

Lefu la Gaucher ke lefu le sa tloaelehang la lefutso leo ho lona motho a hlokang enzyme e bitsoang glucocerebrosidase (GBA).

Lefu la Gaucher ha le fumanehe hangata ho batho ka kakaretso. Batho ba Lefa la Sejuda la Bochabela le Bohareng (Ashkenazi) ba na le monyetla oa ho ba le lefu lena.

Ke lefu la autosomal le fetelletseng. Sena se bolela hore mme le ntate ba tlameha ho fetisetsa kopi e le 'ngoe e sa tloaelehang ea lefutso ho ngoana oa bona e le hore ngoana a be le lefu lena. Motsoali ea tšoereng kopi e sa tloaelehang ea lefutso empa a sena lefu o bitsoa mokalli ea khutsitseng.

Ho haella ha GBA ho baka lintho tse kotsi ho aha sebeteng, spleen, masapo le mokong oa masapo. Lintho tsena li thibela lisele le litho ho sebetsa hantle.

Ho na le mefuta e meraro e ka sehloohong ea lefu la Gaucher:

• Mofuta oa 1 o atile haholo. E kenyelletsa lefu la masapo, phokolo ea mali, spleen e atolositsoeng le li-platelet tse tlase (thrombocytopenia). Mofuta oa 1 o ama bana le batho ba baholo. E atile haholo ho baahi ba Bajuda ba Ashkenazi.
• Mofuta oa 2 hangata o qala ho tloha boseeng ka ho nka karolo ho matla ha methapo ea kutlo. Foromo ena e ka lebisa lefung le potlakileng, la pele ho nako.
• Mofuta oa 3 o ka baka mathata a sebete, a spleen le a boko. Batho ba nang le mofuta ona ba ka phela ho fihlela ba le batho ba baholo.

Ho tsoa mali ka lebaka la palo e tlase ea li-platelet ke letšoao le tloaelehileng ho fetisisa le bonoang ho lefu la Gaucher. Matšoao a mang a kenyeletsa:

• Bohloko ba masapo le ho robeha
• Bofokoli ba kelello (ho fokotsa matla a ho nahana)
• Ho loma habonolo
• Spleen e atolositsoeng
• Sebete se atolositsoeng
• Mokhathala
• Mathata a li-valve tsa pelo
• Lefu la lung (le sa tloaelehang)
• Ho oa
• Ho ruruha ho matla nakong ea tsoalo
• Letlalo lea fetoha

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele mme a botse ka matšoao.

Liteko tse latelang li ka etsoa:

• Teko ea mali ho batla ts'ebetso ea enzyme
• Takatso ea moko oa masapo
• Biopsy ea spleen
• MRI
• CT
• X-ray ea masapo
• Ho etsa liteko tsa lefutso

Lefu la Gaucher le ke ke la phekoloa. Empa kalafo e ka thusa ho laola ebile e ka ntlafatsa matšoao.

Meriana e ka fuoa:

• Kenya sebaka sa GBA e lahlehileng (kalafo ea enzyme replacement) ho thusa ho fokotsa boholo ba spleen, bohloko ba masapo le ho ntlafatsa thrombocytopenia.
• Fokotsa tlhahiso ea lik'hemik'hale tse mafura tse hahang 'meleng.

Mefuta e meng ea kalafo e kenyelletsa:

• Meriana ea bohloko
• Ho buoa ka mathata a masapo le manonyeletso, kapa ho tlosa spleen
• Litšelo tsa mali

Lihlopha tsena li ka fana ka leseli le eketsehileng ka lefu la Gaucher:

• Motheo oa National Gaucher - www.gaucherdisease.org
• Laeborari ea Naha ea Bongaka, Referense ea Lehae la Liphatsa tsa lefutso - ghr.nlm.nih.gov/condition/gaucher-disease
• Mokhatlo oa Naha oa Mafu a Rare - rarediseases.org/rare-diseases/gaucher-disease

Hore na motho o etsa hantle hakae ho latela mofuta oa lefu lena. Sebopeho sa masea sa Gaucher (Mofuta oa 2) se ka lebisa lefung la pele ho nako. Boholo ba bana ba anngoeng ke lefu ba shoa pele ho lilemo tse 5.

Batho ba baholo ba nang le mofuta oa mofuta oa 1 oa lefu la Gaucher ba ka lebella nako e tloaelehileng ea ho phela ka kalafo ea enzyme.

Mathata a lefu la Gaucher a ka kenyelletsa:

• Ho oa
• Khaello ea mali
• Thrombocytopenia
• Mathata a masapo

Ho khothaletsoa tlhabollo ea lefutso bakeng sa bao e tla ba batsoali ba nang le nalane ea malapa ea lefu la Gaucher. Ho hlahlojoa ho ka tseba hore na batsoali ba na le lefutso le ka fetisang lefu la Gaucher. Teko ea bakhachane e ka tseba hape hore na lesea le ka popelong le na le lefu la Gaucher.

Khaello ea Glucocerebrosidase; Khaello ea Glucosylceramidase; Maloetse a polokelo ea Lysosomal - Gaucher

• Takatso ea moko oa masapo
• Sele ea Gaucher - photomicrograph
• Sele ea Gaucher - photomicrograph # 2
• Hepatosplenomegaly

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Krasnewich DM, Sidransky E. Maloetse a polokelo ea Lysosomal. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 197.

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