Chirwere cheGaucher

Chirwere cheGaucher chirwere chisingawanzoitika apo munhu anenge asina enzyme inonzi glucocerebrosidase (GBA).

Chirwere cheGaucher hachiwanzo kuwanikwa muhuwandu hwevanhu. Vanhu veEastern neCentral Europe (Ashkenazi) nhaka yechiJuda vanowanzove nechirwere ichi.

Iyo autosomal yakawandisa chirwere. Izvi zvinoreva kuti amai nababa vanofanirwa kupfuudza imwechete yekodhi rechirwere kumwana wavo kuitira kuti mwana akure chirwere. Mubereki anotakura kopi isina kujairika yegene asi asina chirwere anonzi mutakuri akanyarara.

Kushaikwa kweGBA kunokonzeresa zvinhu zvinokuvadza kuvaka muchiropa, spleen, mapfupa, uye mongo wemapfupa. Izvi zvinhu zvinodzivirira maseru uye nhengo kushanda zvakanaka.

Kune matatu makuru madiki eGaucher chirwere:

• Type 1 inonyanya kuwanikwa. Inosanganisira chirwere chemapfupa, kupererwa neropa, spleen yakakura uye maplatelet mashoma (thrombocytopenia). Type 1 inobata vese vana nevakuru. Inowanzoitika muAshkenazi Jewish population.
• Rudzi rwechipiri runowanzo kutanga muhucheche hwakakomba neurologic kubatanidzwa. Iyi fomu inogona kutungamira mukukurumidza, kufa kwekutanga.
• Type 3 inogona kukonzera chiropa, spleen, uye matambudziko ehuropi. Vanhu vane mhando iyi vanogona kurarama mukukura.

Kubuda ropa nekuda kweiyo yakaderera platelet kuverenga ndicho chiratidzo chinowanzoonekwa mune chirwere cheGaucher. Zvimwe zviratidzo zvinogona kusanganisira:

• Kutambudzika kwepfupa uye kutsemuka
• Kukanganisa kwekuziva (kuderera kwekufunga kugona)
• Kupwanya kuri nyore
• Yakawedzera spleen
• Yakawedzera chiropa
• Kuneta
• Matambudziko emagetsi emoyo
• Chirwere chemapapu (chisingawanzoitiki)
• Kufenda
• Kuzvimba kwakanyanya pakuzvarwa
• Ganda rinochinja

Anopa hutano anoita bvunzo dzepanyama uye obvunza nezvezviratidzo.

Iyi bvunzo inotevera inogona kuitwa:

• Ropa bvunzo kutarisa enzyme chiitiko
• Bone marora kushuvira
• Biopsy yesle
• MRI
• CT
• X-ray yemafupa
• Kuongorora genetic

Chirwere cheGaucher hachigone kurapwa. Asi kurapwa kunogona kubatsira kudzora uye kunogona kugadzirisa zviratidzo.

Mishonga inogona kupihwa:

• Tsiva iyo yakarasika GBA (enzyme kutsiva kurapa) kubatsira kudzikisa spleen saizi, kurwadziwa kwepfupa, uye kugadzirisa thrombocytopenia
• Deredza kugadzirwa kwemakemikari ane mafuta anovaka mumuviri.

Mimwe mishonga inosanganisira:

• Mishonga yekurwadziwa
• Kuvhiya kwematambudziko emabhonzo pamwe nemajoini, kana kubvisa tsinga
• Kuisirwa ropa

Aya mapoka anogona kupa rumwe ruzivo nezve chirwere cheGaucher:

• National Gaucher Foundation - www.gaucherdisease.org
• National Raibhurari yeMishonga, Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/gaucher-disease
• National Sangano reRare Zvirwere - rarediseases.org/rare-diseases/gaucher-disease

Kuita zvakanaka kunoita munhu kunoenderana nekadiki kechirwere. Chimiro chevacheche chechirwere cheGaucher (Rudzi rwechipiri) chinogona kutungamira mukufa kwekutanga. Vazhinji vanokanganiswa vana vanofa vasati vava nemakore mashanu.

Vakuru vane mhando 1 fomu yechirwere cheGaucher vanogona kutarisira kurarama kweyakajairika ne enzyme kutsiva kurapa.

Zvinetso zvechirwere cheGaucher zvinogona kusanganisira:

• Kufenda
• Anemia
• Thrombocytopenia
• Matambudziko emapfupa

Genetic counselling inokurudzirwa kune vangangove vabereki vane nhoroondo yemhuri yechirwere cheGaucher. Kuedzwa kunogona kuona kana vabereki vakatakura geni iro rinogona kupfuura chirwere cheGaucher. Kuongororwa kwepamuviri kunogona zvakare kutaura kana mwana ari mudumbu ane Gaucher syndrome.

Kushayikwa kweGlucocerebrosidase; Glucosylceramidase kushomeka; Lysosomal kuchengetedza chirwere - Gaucher

• Bone marora kushuvira
• Gaucher sero - photomicrograph
• Gaucher sero - photomicrograph # 2
• Hepatosplenomegaly

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism ye lipids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 104.

Krasnewich DM, Sidransky E.Lysosomal kuchengetedza zvirwere. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chits. 197.

Turnpenny PD, Ellard S, Cleaver R. Inborn zvikanganiso zve metabolism. Mune: Turnpenny PD, Ellard S, Cleaver R, eds. Zvinhu zveEmery zveMedical Genetics uye Genomics. 16 ed. Philadelphia, PA: Elsevier; 2022: chitsauko 18.