Odee: William Ramirez
OfbọChị Okike: 18 Septemba 2021
DatebọChị Mmelite: 16 Julai 2025
Anonim
Adrenoleukodystrophy - causes, symptoms, diagnosis, treatment, pathology
Vidio: Adrenoleukodystrophy - causes, symptoms, diagnosis, treatment, pathology

Adrenoleukodystrophy na-akọwa ọtụtụ nsogbu metụtara ya nke na-emebi mmebi nke ụfọdụ abụba. Nsogbu ndị a na-ebukarị (ketara) n'ezinụlọ.

Adrenoleukodystrophy na-ebutekarị site na nne na nna gaa na nwa dịka àgwà mkpụrụ ndụ ihe nketa X. Ọ na-emetụta ọtụtụ ndị nwoke. Womenfọdụ ụmụ nwanyị na-ebu ọrịa nwere ike ịnwe ụdị ọrịa dị mfe. Ọ na-emetụta ihe dịka 1 n’ime mmadụ 20,000 si n’agbụrụ niile.

Ọnọdụ a na-ebute ngwongwo nke fatty acids na-adị ogologo ogologo na sistem ụjọ, gland adrenal, na testes. Nke a na akpaghasị ọrụ dị n’ahụ mmadụ ndị a.

E nwere ụzọ atọ dị mkpa nke ọrịa:

  • Ceredị ụbụrụ ụbụrụ nwata - na-egosi n'etiti nwata (na afọ 4 ruo 8)
  • Adrenomyelopathy - pụtara na ụmụ nwoke na 20s ma ọ bụ karịa na ndụ
  • Mmeri adrenal gland ọrụ (akpọ Addison ọrịa ma ọ bụ Addison-dị ka phenotype) - adrenal gland anaghị emepụta ihe zuru ezu steroid hormones

Symptomsdị ụbụrụ ụdị ọrịa ụmụaka gụnyere:


  • Mgbanwe nke olu akwara, ọkachasị ahụ ike na mmegharị a na-achịkwaghị achịkwa
  • Anya gafere
  • Aka odide nke na-akawanye njọ
  • Ihe isi ike n'ụlọ akwụkwọ
  • O siri ike ịghọta ihe ndị mmadụ na-ekwu
  • Ntị ntị
  • Mgbatị ahụ
  • Njọ usoro ụjọ na-akawanye njọ, gụnyere coma, njikwa ikike moto dị mma, na ahụ mkpọnwụ
  • Ọdịdọ
  • Nsogbu ilo
  • Ọdịdị ọhụụ ma ọ bụ ikpu ìsì

Adrenomyelopathy mgbaàmà gụnyere:

  • O siri ike ịchịkwa mmamịrị
  • Ekwe omume ike na-akawanye njọ ike ma ọ bụ ụkwụ isi ike
  • Nsogbu banyere iche echiche ọsọ na ebe nchekwa anya

Adrenal gland ọdịda (ụdị Addison) ihe mgbaàmà gụnyere:

  • Coma
  • Ibelata agụụ
  • Agba agba agba
  • Loss nke arọ na akwara uka (imefusị)
  • Ike adịghị ike
  • Akpịrị

Ule maka ọnọdụ a gụnyere:

  • Ọbara ọbara nke abụba abụba na homonụ dị ogologo nke na-emepụta site na gland
  • Chromosome ọmụmụ anya maka mgbanwe (mmụba) na ABCD1 mkpụrụ ndụ ihe nketa
  • MRI nke isi
  • Skin biopsy

Adrenal anaghị arụ ọrụ nwere ike iji steroid (dị ka cortisol) gwọọ ma ọ bụrụ na adrenal gland anaghị emepụta homonụ zuru ezu.


Enwere ọgwụgwọ a kapịrị ọnụ maka adrenoleukodystrophy metụtara X. Ọkpụkpụ ụmị ọkpụkpụ nwere ike ịkwụsị njọ nke ọnọdụ ahụ.

Nlekọta nkwado na nlezianya nyochaa ọrụ gland na-adịghị mma nwere ike inyere aka n'ịkwalite nkasi obi na ịdị mma nke ndụ.

Ihe ndi a nwere ike inye ndi ozo banyere adrenoleukodystrophy:

  • Organizationtù Mba Maka Ọrịa Na-arịa Ọrịa - rarediseases.org/rare-diseases/adrenoleukodystrophy
  • NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Dị nwata nke njikọ adrenoleukodystrophy nke X bụ ọrịa na-aga n'ihu. Ọ na - eduga na coma ogologo oge (ọnọdụ vegetative) ihe dị ka afọ 2 mgbe akara ngosi nke ụjọ ụjọ malitere. Nwatakịrị ahụ nwere ike ibi ụdị ihe a afọ iri rue mgbe ọnwụ nwụrụ.

Formsdị ndị ọzọ nke ọrịa a dị nro.

Nsogbu ndị a nwere ike ime:

  • Nsogbu adrenal
  • Ala akwukwo nri

Kpọọ onye nlekọta ahụike gị ma ọ bụrụ:


  • Nwa gị amalitela mgbaàmà nke adrenoleukodystrophy nke X metụtara
  • Nwa gị nwere njikọ X-adrenoleukodystrophy nke X na-akawanye njọ

A na-atụ aro ndụmọdụ gbasara mkpụrụ ndụ maka ndị di na nwunye nwere akụkọ ihe mere eme nke ezinụlọ banyere adrenoleukodystrophy X. Ndị nne nke ụmụ nwoke ahụ metụtara nwere 85% ohere ịbụ ndị na-ebu maka ọnọdụ a.

Nchoputa nke omumu banyere adrenoleukodystrophy nke jikọrọ X-dikwa. A na-eme ya site na ịnwale mkpụrụ ndụ sitere na chorionic villus sampling ma ọ bụ amniocentesis. Nlere ndị a na-ele anya maka mgbanwe mkpụrụ ndụ ihe ama ama n'ime ezinụlọ ma ọ bụ maka ogo abụba abụba dị ogologo.

X-jikọtara Adrenoleukodystrophy; Adrenomyeloneuropathy; Nwatakịrị ụbụrụ ụbụrụ adrenoleukodystrophy; ALD; Mgbakwunye Schilder-Addison

  • Neonatal adrenoleukodystrophy

James WD, Berger TG, Elston DM. Njehie na metabolism. Na: James WD, Berger TG, Elston DM, eds. Ọrịa Andrews nke Skin: Clinical Dermatology. Agba nke iri na abụọ. Philadelphia, PA: Elsevier; 2016: isi 26.

Lissauer T, Carroll W. Ọrịa na-adịghị mma. Na: Lissauer T, Carroll W, eds. Akwụkwọ Akwụkwọ Nlereanya nke Paediatrics. Nke 5. Philadelphia, PA: Elsevier; 2018: isi 29.

Stanley CA, Bennett MJ. Mmebi nke metabolism nke 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.

Vanderver A, Wolf NI. Mkpụrụ ndụ ihe nketa na metabolic nke ihe ọcha. Na: Swaiman KF, Ashwal S, Ferriero, et al, eds. Ọrịa Na-ahụ Maka Ọrịa edimụaka nke Swaiman. Nke isii. Philadelphia, PA: Elsevier; 2017: isi nke 99.

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