Ọrịa Bassen-Kornzweig

Ọrịa Bassen-Kornzweig bụ ọrịa na-adịghị ahụkebe nke sitere na ezinụlọ. Onye ahu enweghi ike inu mmanu nri nke oma site na eriri afọ.

Ọrịa Bassen-Kornzweig bụ nkwarụ na mkpụrụ ndụ ihe nketa nke na-agwa ahụ ka o mepụta lipoproteins (mkpụrụ ndụ nke abụba na protein). Nkwarụ ahụ na - eme ka o siere ahụ ike ikere abụba na vitamin dị mkpa nke ọma.

Mgbaàmà gụnyere:

• Iguzozi na nhazi
• Curvature nke spain
• Mbelata ọhụụ na-akawanye njọ karịa oge
• Oge mmepe
• Enweghi ike ime nke oma (itolite) na nwata
• Ike adịghị ike
• Nchịkọta akwara na-adịghị mma nke na-amalitekarị mgbe afọ 10 gachara
• Afọ na-agbatị
• Okwu na-adịghị mma
• Ọrịa na-adịghị mma, gụnyere oche mara abụba nke na-acha ka ụcha chacha acha, na stool na-adịghị ọcha, na oche nri na-adịghị mma

Enwere ike imebi retina anya (retinitis pigmentosa).

Ule nke enwere ike ime iji nyere aka chọpụta ọnọdụ a gụnyere:

• Apolipoprotein B nyocha ọbara
• Nyocha ọbara iji chọpụta ụkọ vitamin (vitamin A, D, E, na K) nwere ike ịgbakwunye abụba.
• "Burr-cell" adịghị mma nke mkpụrụ ndụ uhie (acanthocytosis)
• Ọnụọgụ ọbara zuru ezu (CBC)
• Cholesterol ọmụmụ
• Ihe omuma
• Anya nyocha
• Nerve conduction ngwa ngwa
• Nyocha stool sample

Mkpụrụ ndụ ihe nketa nwere ike ịdị maka mmụba na MTP mkpụrụ ndụ ihe nketa.

Ọgwụgwọ gụnyere ọtụtụ ihe na-enye vitamin ndị nwere vitamin ndị nwere abụba (vitamin A, vitamin D, vitamin E, na vitamin K).

A na-atụ aro ihe mgbakwunye Linoleic acid.

Ndị nwere ọnọdụ a kwesịrị ịgwa onye na-eri nri nri. Achọrọ mgbanwe nri iji gbochie nsogbu afọ. Nke a nwere ike ịgụnye igbochi iri ụfọdụ ụdị abụba.

A na-ewere mgbakwunye nke triglycerides na-ajụ ọkara n'okpuru nlekọta nke onye nlekọta ahụike. Ekwesịrị iji ha kpachara anya, n'ihi na ha nwere ike imebi imeju.

Otu onye si eme nke ọma dabere na oke ụbụrụ na nsogbu sistemụ ụjọ.

Nsogbu nwere ike ịgụnye:

• Ìsì
• Echiche nke uche
• Loss nke ọrụ nke akwara akụkụ, uncoordinated ije (ataxia)

Kpọọ onye na-ahụ maka ọrụ gị ma ọ bụrụ na nwa gị ma ọ bụ nwa gị nwere mgbaàmà nke ọrịa a. Ndụmọdụ nke mkpụrụ ndụ ihe nketa nwere ike inyere ezinụlọ aka ịghọta ọnọdụ na ọghọm dị n’inweta ya, ma mụta otu esi elekọta mmadụ.

Nnukwu vitamin ndị nwere ike ịgbanye abụba nwere ike ime ka nsogbu ụfọdụ kwụsịlata, dị ka retina ka ọ mebie ma ọhụhụ mmadụ na-ebelata.

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B erughị eru

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Mmebi na metabolism na lipids. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi nke 104.

Shamir R. Ọrịa nke malabsorption. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 364.