Ọrịa Gaucher

Ọrịa Gaucher bụ ọrịa mkpụrụ ndụ na-adịghị ahụkebe nke mmadụ na-enweghi enzyme a na-akpọ glucocerebrosidase (GBA).

Ọrịa Gaucher dị obere na ọnụ ọgụgụ mmadụ dum. Ndị bi na Ọwụwa Anyanwụ na Central Europe (Ashkenazi) ndị nketa ndị Juu nwere ike ịrịa ọrịa a.

Ọ bụ autosomal recessive ọrịa. Nke a pụtara na nne na nna ga-ebuferị nwa ha otu mkpụrụ ndụ ihe nketa nke ọrịa ahụ ka nwata ahụ nwee ike ibute ọrịa ahụ. A na-akpọ onye nne na nna na-eburu mkpụrụ ndụ ihe nketa nke mkpụrụ ndụ ihe nketa mana ọ nweghị ọrịa a ka ọ na-akpọ ya nkịtị.

Enweghị GBA na-ebute ihe ndị na-emerụ ahụ n'imeju, imeju, ọkpụkpụ, na ụmị ọkpụkpụ. Ihe ndị a na-egbochi mkpụrụ ndụ na akụkụ ahụ anaghị arụ ọrụ nke ọma.

E nwere ụzọ atọ dị mkpa nke ọrịa Gaucher:

• 1dị 1 kachasị. Ọ na-agụnye ọrịa ọkpụkpụ, anaemia, na-ebuwanye ibu na obere platelets (thrombocytopenia). 1dị nke mbụ na-emetụta ma ụmụaka ma ndị okenye. Ọ bụ nke a na-ahụkarị na ndị Juu ndị Ashkenazi.
• Typedị nke 2 na-amalitekarị na nwata site na itinye aka na neurologic siri ike. Dị a nwere ike ibute ọnwụ ngwa ngwa.
• 3dị nke atọ nwere ike ịkpata nsogbu imeju, splin, na ụbụrụ. Ndị nwere ụdị a nwere ike ịdị na-aghọ okenye.

Ọbara ọgbụgba n'ihi ọnụ ọgụgụ platelet dị ala bụ ihe mgbaàmà kachasị ahụkarị na ọrịa Gaucher. Mgbaàmà ndị ọzọ nwere ike ịgụnye:

• Ọkpụkpụ mgbu na mgbaji ọkpụkpụ
• Nghọta uche (ikike iche echiche)
• Mgbu bruising
• Na-abawanye
• Imeju imeju
• Ike ọgwụgwụ
• Nsogbu obi obi
• Ọrịa akpa ume (obere)
• Ọdịdọ
• Ọzịza siri ike na ọmụmụ
• Skin na-agbanwe

Onye nlekọta ahụike ga-eme nyocha anụ ahụ ma jụọ maka ihe mgbaàmà ahụ.

Enwere ike ịme ule ndị a:

• Nyocha ọbara iji chọọ ọrụ enzyme
• Ọkpụkpụ ụmị ọkpụkpụ
• Biopsy nke mkpụrụ
• MRI
• CT
• X-ray nke ọkpụkpụ
• Nnwale mkpụrụ ndụ ihe nketa

Enweghi ike gwọọ ọrịa Gaucher. Ma ọgwụgwọ nwere ike inyere aka ịchịkwa ma nwee ike melite mgbaàmà.

Enwere ike inye ọgwụ:

• Dochie anya GBA na-efu (ọgwụ mmechi enzyme) iji nyere aka belata nhaji, ọkpụkpụ mgbu, ma melite thrombocytopenia.
• Kwụsị imepụta kemịkal na-aba ụba n'ime ahụ.

Usoro ọgwụgwọ ndị ọzọ gụnyere:

• Ọgwụ maka mgbu
• Gerywa ahụ maka ọkpụkpụ na nsogbu nkwonkwo, ma ọ bụ wepụ splin
• Mmịnye ọbara

Ndị otu a nwere ike inyekwu ozi gbasara ọrịa Gaucher:

• National Gaucher Foundation - www.gaucherdisease.org
• Librarylọ Ọgwụ Na-ahụ Maka Ọgwụ nke Mba, Nkọwapụta etlọ Genetik - ghr.nlm.nih.gov/condition/gaucher-disease
• Organizationtù Mba Maka Ọrịa Na - adịghị - rarediseases.org/rare-diseases/gaucher-disease

Uzo mmadu n’eme nke oma na -adabere n’okpuru udi oria ha. Infdị infantile nke ọrịa Gaucher (2dị 2) nwere ike ibute ọnwụ n'oge. Imirikiti ụmụaka emetụtara tupu ha eruo afọ 5.

Ndị okenye nwere ụdị 1 nke ọrịa Gaucher nwere ike ịtụ anya ịdị ndụ ndụ nkịtị na usoro ọgwụgwọ enzyme.

Nsogbu nke ọrịa Gaucher nwere ike ịgụnye:

• Ọdịdọ
• Anaemia
• Thrombocytopenia
• Ọkpụkpụ nsogbu

A na-atụ aro ndụmọdụ banyere mkpụrụ ndụ ihe nketa maka ndị ga-abụ nne na nna nwere akụkọ banyere ezinụlọ nke ọrịa Gaucher. Nnwale nwere ike ikpebi ma ndị nne na nna na-ebu mkpụrụ ndụ ihe nketa nke nwere ike ibute ọrịa Gaucher. Nnwale tupu oge eruo nwekwara ike igosi ma nwa nọ n'afọ nwere nsogbu Gaucher.

Enweghi nsogbu Glucocerebrosidid; Enweghi nsogbu Glucosylceramidase; Lysosomal nchekwa ọrịa - Gaucher

• Ọkpụkpụ ụmị ọkpụkpụ
• Gaucher cell - photomicrograph
• Gaucher cell - photomicrograph # 2
• Hepatosplenomegaly

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