Gịnị bụ Mucopolysaccharidosis na otu esi emeso ya

Ndinaya

• Mucodị mucopolysaccharidosis
• Ihe nwere ike ibute ya
• Kedu ihe mgbaàmà
• Kedu ihe bụ nchoputa
• Otu esi eme ọgwụgwọ ahụ

A na-eji Mucopolysaccharidosis mara otu ìgwè ọrịa ketara eketa nke na-esite na enweghị enzyme, nke nwere ọrụ nke ịgbari shuga a na-akpọ mucopolysaccharide, nke a makwaara dị ka glucosaminoglycan.

Nke a bụ ihe dị obere ma sie ike ịchọpụta ọrịa, n'ihi na ọ na-egosi ihe mgbaàmà yiri nke ọrịa ndị ọzọ, dịka imeju na mgbatị na-ebuwanye ibu, nrụrụ nke ọkpụkpụ na nkwonkwo, nsogbu anya na nsogbu iku ume, dịka ọmụmaatụ.

Mucopolysaccharidosis enweghi ọgwụgwọ, mana enwere ike ịgwọ ọrịa nke na-eme ka mbido ọrịa ahụ belata ma nye mmadụ ezigbo ndụ. Ọgwụgwọ na-adabere n'ụdị ụdị mucopolysaccharidosis ma enwere ike ime ya na nnọchi enzyme, ịkpụkpụ ụmị ọkpụkpụ, ọgwụgwọ anụ ahụ ma ọ bụ ọgwụ dịka ọmụmaatụ.

Mucodị mucopolysaccharidosis

Mucopolysaccharidosis nwere ike ịbụ nke ọtụtụ ụdị, nke metụtara enzyme ahụ ahụ na-enweghị ike ịmịpụta, si otú a na-egosipụta mgbaàmà dị iche iche maka ọrịa ọ bụla. Mucodị mucopolysaccharidosis dị iche iche bụ:

• Pịnye 1: Hurler, Hurler-Schele ma ọ bụ Schele syndrome;
• Pịnye 2: Ọrịa Hunter;
• Pịnye 3: Ọrịa Sanfilippo;
• Pịnye 4: Ọrịa Morquio. Mụtakwuo banyere ụdị mucopolysaccharidosis ụdị 4;
• Pịnye 6: Ọrịa Maroteux-Lamy;
• Pịnye 7: Ọrịa Sly.

Ihe nwere ike ibute ya

Mucopolysaccharidosis bụ ọrịa mkpụrụ ndụ ihe nketa e ketara eketa, nke pụtara na ọ na-esi n’aka nne na nna na-ebufe ụmụaka ma bụrụkwa ọrịa autosomal recessive, ma e wezụga ụdị nke abụọ. Ejiri ọrịa a site na enweghi ike nke anụ ahụ iji mepụta otu enzyme nke na-emebi mucopolysaccharides.

Mucopolysaccharides bụ sugars ogologo oge, dị mkpa maka ịkpụpụta akụkụ ahụ dị iche iche, dịka anụ ahụ, ọkpụkpụ, cartilage na akwara, nke na-agbakọta na ngwongwo ndị a, mana nke kwesiri ịmegharị. Maka nke a, achọrọ enzymes iji mebie ha, ka ha wee nwee ike wepu ya ma jiri mucopolysaccharides ọhụrụ dochie ya.

Otú ọ dị, na ndị nwere mucopolysaccharidosis, ụfọdụ n'ime enzymes ndị a nwere ike ọ gaghị adị maka mmebi nke mucopolysaccharide, na-eme ka usoro mmeghari ohuru ahụ kwụsị, na-eduga na nchịkọta shuga ndị a na lysosomes nke sel ahụ, na-emebi ọrụ ha ma na-enye bilie na ọrịa ndị ọzọ na malformations.

Kedu ihe mgbaàmà

Mgbaàmà nke mucopolysaccharidosis na-adabere n'ụdị ọrịa onye ahụ nwere ma na-aga n'ihu, nke pụtara na ha na-akawanye njọ ka ọrịa ahụ na-aga n'ihu. Fọdụ n'ime ihe ịrịba ama na mgbaàmà bụ:

• Imeju na splin gbasaa;
• Ọkpụkpụ deformations;
• Nsogbu nkwonkwo na ngagharị;
• Obere;
• Ọrịa ume iku ume;
• Umbilical ma ọ bụ inguinal hainia;
• Akụkụ okuku ume na ọrịa obi;
• Ntị na nsogbu anya;
• Ikwo ụra;
• Mgbanwe na Sistemụ Ahụhụ Central;
• Isi toro.

Na mgbakwunye, imirikiti ndị mmadụ na-arịa ọrịa a nwekwara ọdịdị ihu ọdịdị ihu.

Kedu ihe bụ nchoputa

N'ozuzu, nchoputa nke mucopolysaccharidosis nwere nyocha nke ihe ịrịba ama na mgbaàmà na nyocha ụlọ nyocha.

Otu esi eme ọgwụgwọ ahụ

Ọgwụgwọ dabere na ụdị mucopolysaccharidosis nke mmadụ nwere, ọnọdụ nke ọrịa ahụ na nsogbu ndị na-ebilite ma mee ya ngwa ngwa o kwere mee.

Dọkịta nwere ike ịkwado ọgwụgwọ mmechi enzyme, ịkpụkpụ ụbụrụ ma ọ bụ usoro ọgwụgwọ anụ ahụ, dịka ọmụmaatụ. Tụkwasị na nke ahụ, a ghaghị ịgwọ nsogbu ndị ọrịa ahụ kpatara.