Odee: Marcus Baldwin
OfbọChị Okike: 18 Juunu 2021
DatebọChị Mmelite: 2 Februari 2025
Anonim
Metachromatic leukodystrophy - causes, symptoms, diagnosis, treatment, pathology
Vidio: Metachromatic leukodystrophy - causes, symptoms, diagnosis, treatment, pathology

Metachromatic leukodystrophy (MLD) bụ mkpụrụ ndụ ihe nketa nke na-emetụta akwara, akwara, akụkụ ndị ọzọ, na akparamàgwà. Ọ na-eji nwayọ nwayọ na-akawanye njọ.

MLD na-abụkarị n'ihi enweghị enzyme dị mkpa a na-akpọ arylsulfatase A (ARSA). Ebe ọ bụ na enzyme a na-efu efu, kemikal ndị a na-akpọ sulfatides na-eto n'ime ahụ ma na-emebi usoro ụjọ, akụrụ, gallbladder, na akụkụ ndị ọzọ. Karịsịa, kemịkalụ ahụ na-emebi ihe mkpuchi nchekwa nke gbara mkpụrụ ndụ akwara gburugburu.

Ọrịa a na-ebute site na ezinụlọ (ketara). Ga - enweta otu ụdị mkpụrụ ndụ ihe na - emebi emebi site n’aka nne na nna gị ka ha bute ọrịa a. Ndị nne na nna nwere ike inwe mkpụrụ ndụ na-adịghị mma, mana enweghị MLD. A na-akpọ onye nwere otu mkpụrụ ndụ ihe nketa na-adịghị arụ ọrụ "ụgbọelu."

Whomụaka na - eketa naanị otu mkpụrụ sitere na nne ma ọ bụ nna ga - abụ ụgbọelu, mana ọ gaghị enwekarị MLD. Mgbe ndị na-ebu abụọ nwere nwa, enwere ohere 1 na 4 na nwatakịrị ahụ ga-enweta ma mkpụrụ ndụ ihe nketa ma nwee MLD.

E nwere ụdị MLD atọ. Dị ndị a dabere na mgbe mgbaàmà ahụ na-amalite:


  • Oge mgbaàmà MLD na-amalite site na afọ 1 ruo 2.
  • Mgbaàmà nke ụmụaka MLD na-amalitekarị n'etiti afọ 4 na 12.
  • Okenye (na nwata nke MLD) nwere ike ịmalite n'etiti afọ 14 na okenye (karịa 16), mana ọ nwere ike ịmalite n'oge dị ka 40s ma ọ bụ 50s.

Mgbaàmà nke MLD nwere ike ịgụnye nke ọ bụla n'ime ihe ndị a:

  • Muscledị akwara na-adịkarị elu ma ọ bụ na-ebelata, ma ọ bụ mmegharị akwara na-adịghị ahụkebe, nke ọ bụla nwere ike ibute nsogbu n'ije ije ma ọ bụ ịda daa ugboro ugboro
  • Nsogbu akparamàgwà, mgbanwe mmadụ, mgbakasị
  • Mbelata nke uche
  • Nsogbu ilo
  • Enweghi ike ịrụ ọrụ nkịtị
  • Incontinence
  • Ọrụ ụlọ akwụkwọ na-adịghị mma
  • Ọdịdọ
  • Nsogbu okwu, slurring

Onye nlekọta ahụike ga-eme nyocha anụ ahụ, na-elekwasị anya na mgbaàmà sistemụ ụjọ.

Ule nke enwere ike ime gunyere:

  • Ọbara ma ọ bụ ọdịbendị anụ ịchọ obere arylsulfatase Ọrụ
  • Ule ọbara ịchọ obere arylsulfatase A enzyme etoju
  • Nyocha DNA maka mkpụrụ ndụ ARSA
  • MRI nke ụbụrụ
  • Nerve biopsy
  • Ihe omumu nke akwara
  • Urinalysis

Enweghị ọgwụgwọ maka MLD. Nlekọta na-elekwasị anya na ịgwọ mgbaàmà ahụ na ichekwa ndụ onye ahụ na ọgwụgwọ anụ ahụ na ọrụ.


Enwere ike ịtụle ọkpụkpụ ụmị ọkpụkpụ maka MLD infantile.

Nnyocha na-amụ ụzọ iji dochie enzyme na-efu efu (arylsulfatase A).

Ndị otu a nwere ike ịnyekwu ozi na MLD:

  • Organizationtù Mba Maka Ọrịa Na-adịghị Ahụ --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
  • NLM Ntughari Uzo nke ulo - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
  • United Leukodystrophy Association - www.ulf.org

MLD bụ ajọ ọrịa nke na-akawanye njọ karịa oge. N’ikpeazụ, ndị mmadụ anaghịzi enwezi akwara na uche. Oge ndụ dịgasị iche iche, dabere n'afọ ole ọnọdụ ahụ malitere, mana usoro ọrịa a na-agbakarị afọ 3 ruo 20 ma ọ bụ karịa.

A na-atụ anya ka ndị nwere nsogbu a dị mkpụmkpụ karịa oge ndụ ha. N’oge mbụ ọ dị afọ nchoputa, ọ na - eme ngwa ngwa ọrịa ahụ na - aga n’ihu.

A na-atụ aro ndụmọdụ gbasara mkpụrụ ndụ ihe nketa ma ọ bụrụ na ị nwere akụkọ gbasara ezinụlọ banyere nsogbu a.

MLD; Arylsulfatase A erughi; Leukodystrophy - metachromatic; ARSA erughi


  • Usoro nhụjuanya nke etiti na usoro ụjọ nke elu

Kwon JM. Ọrịa Neurodegenerative nke nwata. 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 617.

Turnpenny PD, Ellard S, Cleaver R. Mmehie amụrụ nke metabolism. Na: Turnpenny PD, Ellard S, Cleaver R, eds. Ihe Emery nke Medical Genetics and Genomics. Nke 16. Philadelphia, PA: Elsevier; 2022: Isi 18.

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