Adrenoleukodystrophy

Adrenoleukodystrophy e hlalosa mathata a 'maloa a amanang haufi-ufi a sitisang ho senyeha ha mafura a itseng. Mathata ana a fetisoa (a futsitsoe) ka malapeng.

Adrenoleukodystrophy hangata e fetisoa ho tloha ho motsoali ho ea ho ngoana e le semelo se amanang le X. E ama boholo ba banna. Basali ba bang bao e leng bajari ba ka ba le mefuta e bobebe ea lefu lena. E ama batho ba ka bang 1 ho ba 20 000 ba tsoang merabeng eohle.

Boemo bo fella ka ho bokellana ha mafura a malelele a malelele tsamaisong ea methapo, adrenal gland le testes. Sena se senya tšebetso e tloaelehileng likarolong tsena tsa 'mele.

Ho na le mefuta e meraro ea mafu.

• Foromo ea bongoana ba bongoana - e hlaha bohareng ba bongoana (ho lilemo tse 4 ho isa ho tse 8)
• Adrenomyelopathy - e etsahala ho banna ba lilemong tsa bo-20 kapa hamorao bophelong
• Ts'ebetso e mpe ea adrenal gland (e bitsoang lefu la Addison kapa Addison-like phenotype) - adrenal gland ha e hlahise lihormone tse lekaneng tsa steroid

Matšoao a mofuta oa bongoana a kenyeletsa:

• Liphetoho molumo oa mesifa, haholo-holo mesifa ea mesifa le metsamao e sa laoleheng
• Mahlo a sefapano
• Sengolo se ntseng se mpefala
• Bothata sekolong
• Ho thata ho utloisisa seo batho ba se buang
• Ho lahleheloa ke kutlo
• Ho hloka botsitso
• Tšenyo e mpe ea sistimi ea methapo, ho kenyelletsa le koma, e fokotse taolo e ntle ea makoloi le ho holofala
• Ho oa
• Ho metsa mathata
• Bofokoli ba pono kapa bofofu

Matšoao a adrenomyelopathy a kenyelletsa:

• Ho thata ho laola ho ntša metsi
• Ho fokola hoa mesifa kapa ho thatafala ha leoto
• Mathata ka lebelo la ho nahana le memori ea pono

Matšoao a ts'oaetso ea adrenal (mofuta oa Addison) a kenyelletsa:

• Coma
• Ho fokotsa takatso ea lijo
• Keketseho ea 'mala oa letlalo
• Ho lahleheloa ke boima ba 'mele le boima ba mesifa (ho senya)
• Bofokoli ba mesifa
• Ho hlatsa

Liteko tsa boemo bona li kenyelletsa:

• Maemo a mali a ketane e telele haholo ea mafura le lihormone tse hlahisoang ke tšoelesa ea adrenal
• Phuputso ea Chromosome ho batla liphetoho (liphetoho) ho ABCD1 liphatsa tsa lefutso
• MRI ea hlooho
• Letlalo biopsy

Ho se sebetse ha adrenal ho ka phekoloa ka li-steroid (joalo ka cortisol) haeba tšoelesa ea adrenal e sa hlahise lihormone tse lekaneng.

Kalafo e khethehileng ea X-adrenoleukodystrophy e amanang le X ha e fumanehe. Ho kenyelletsa 'moko oa masapo ho ka emisa ho mpefala ha boemo.

Tlhokomelo e tšehetsang le tlhokomelo e hlokolosi ea ts'ebetso ea ts'oaetso ea adrenal e ka thusa ho ntlafatsa boiketlo le boleng ba bophelo.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka adrenoleukodystrophy:

• Mokhatlo oa Naha oa Mafu a Rare - rarediseases.org/rare-diseases/adrenoleukodystrophy
• Tshupiso ea Lehae la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Sebopeho sa bongoana sa X-linked adrenoleukodystrophy ke lefu le tsoelang pele. E lebisa ho coma ea nako e telele (naha ea limela) lilemo tse ka bang 2 kamora hore matšoao a sistimi ea methapo a hlahe. Ngoana a ka phela a le maemong ana ho fihlela lilemo tse 10 ho fihlela lefu le hlaha.

Mefuta e meng ea lefu lena e bobebe.

Mathata ana a ka hlaha:

• Mathata a Adrenal
• Naha ea limela

Bitsa mofani oa tlhokomelo ea bophelo haeba:

• Ngoana oa hau o ba le matšoao a adrenoleukodystrophy e amanang le X
• Ngoana oa hau o tšoeroe ke X-adrenoleukodystrophy mme o ntse a mpefala

Keletso ea lefutso e khothalletsoa banyalani ba nang le nalane ea lelapa ea X-adrenoleukodystrophy e amanang le X. Bo-mme ba bara ba anngoeng ba na le monyetla oa 85% oa ho ba mojari bakeng sa boemo bona.

Tlhahlobo ea bakhachane ea adrenoleukodystrophy e amanang le X le eona ea fumaneha. E etsoa ka ho leka lisele ho tsoa ho chorionic villus sampling kapa amniocentesis. Liteko tsena li batla phetoho e tsebahalang ea liphatsa tsa lefutso ka lapeng kapa bakeng sa maemo a malelele a mafura a asiti.

Adrenoleukodystrophy e amanang le X; Adrenomyeloneuropathy; Adrenoleukodystrophy ea bongoana; ALD; Complex ea Schilder-Addison

• Neonatal adrenoleukodystrophy

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