I-Adrenoleukodystrophy

I-Adrenoleukodystrophy ichaza ukuphazamiseka okuhlobene okusondelene nokuphazamisa ukuwohloka kwamafutha athile. Lezi zinkinga zivame ukudluliselwa (zizuzwe njengefa) emindenini.

I-Adrenoleukodystrophy ivame ukudluliselwa isuka kumzali iye enganeni njengesici sofuzo esixhunywe ku-X. Ithinta kakhulu abesilisa. Abanye besifazane abathwali bangaba nezinhlobo ezinzima zesifo. Ithinta cishe umuntu oyedwa kwabangu-20 000 abavela kuzo zonke izinhlanga.

Lesi simo siphumela ekwakhiweni kwama-fatty acids amaningi-amade kakhulu ohlelweni lwezinzwa, i-adrenal gland, nama-testes. Lokhu kuphazamisa umsebenzi ojwayelekile kulezi zingxenye zomzimba.

Kunezigaba ezintathu ezinkulu zezifo:

• Ifomu le-cerebral yobuntwana - livela maphakathi nobuntwana (eneminyaka engu-4 kuye ku-8)
• I-Adrenomyelopathy - ivela emadodeni aneminyaka engama-20 noma kamuva empilweni
• Umsebenzi we-adrenal gland okhubazekile (obizwa nge-Addison isifo noma i-Addison-like phenotype) - i-adrenal gland ayakhi ama-hormone anele we-steroid

Izimpawu zohlobo lobuchopho lobuntwana zifaka:

• Izinguquko kwithoni yemisipha, ikakhulukazi ukuphazamiseka kwemisipha nokunyakaza okungalawulwa
• Amehlo awele
• Ukubhala ngesandla okuya ngokuya kuba kubi
• Ubunzima esikoleni
• Kunzima ukuqonda okushiwo ngabantu
• Ukulahlekelwa ukuzwa
• Ukungasebenzi kahle
• Ukulimala kwesistimu yezinzwa, kufaka phakathi ikhoma, kwehle ukulawula okuhle kwezimoto, nokukhubazeka
• Ukuquleka
• Ukugwinya ubunzima
• Ukukhubazeka okubonakalayo noma ubumpumputhe

Izimpawu ze-Adrenomyelopathy zifaka:

• Kunzima ukulawula ukuchama
• Ukuwohloka kwemisipha okungenzeka noma ukuqina komlenze
• Izinkinga ngejubane lokucabanga nememori ebonakalayo

Ukwehluleka kwezindlala ze-Adrenal (uhlobo lwe-Addison) kufaka phakathi:

• I-Coma
• Ukwehla kwesifiso sokudla
• Umbala wesikhumba owandisiwe
• Ukwehla kwesisindo nobukhulu bemisipha (ukumosha)
• Ubuthakathaka bemisipha
• Ukuhlanza

Ukuhlolwa kwalesi simo kufaka:

• Amazinga egazi amakhemikhali anamafutha acid amaningi kanye namahomoni akhiqizwa yindlala ye-adrenal
• Ucwaningo lweChromosome ukubheka izinguquko (ukuguqulwa) ku ABCD1 isakhi sofuzo
• I-MRI yekhanda
• Isikhumba biopsy

Ukungasebenzi kahle kwe-adrenal kungaphathwa nge-steroids (njenge-cortisol) uma indlala ye-adrenal ingakhiqizi amahomoni anele.

Ukwelashwa okuthile kwe-adrenoleukodystrophy exhunywe ku-X akutholakali. Ukufakelwa komnkantsha wethambo kungayeka ukuwohloka kwesimo.

Ukunakekelwa okusekelayo nokuqapha ngokucophelela ukungasebenzi kahle kwe-adrenal gland kungasiza ekuthuthukiseni ukunethezeka nekhwalithi yempilo.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-adrenoleukodystrophy:

• Inhlangano Kazwelonke Yezinkinga Zezifo Ezingajwayelekile - rarediseases.org/rare-diseases/adrenoleukodystrophy
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Isimo sobuntwana se-X-adrenoleukodystrophy exhunywe ku-X yisifo esiqhubekayo. Kuholela ku-coma yesikhathi eside (isimo se-vegetative) cishe eminyakeni emibili ngemuva kokuvela kwezimpawu zesistimu yezinzwa. Ingane ingaphila kulesi simo isikhathi esiyiminyaka eyishumi kuze kufike ukufa.

Ezinye izinhlobo zalesi sifo zithambile.

Lezi zinkinga zingenzeka:

• Inkinga ye-adrenal
• Isimo semifino

Shayela umhlinzeki wakho wezempilo uma:

• Ingane yakho iba nezimpawu ze-adrenoleukodystrophy exhunywe ku-X
• Ingane yakho ine-adrenoleukodystrophy exhunywe ku-X futhi iya ngokuya iba yimbi

Ukwelulekwa ngofuzo kunconyelwa imibhangqwana enomlando womndeni we-X-adrenoleukodystrophy exhunywe ku-X. Omama bamadodana athintekile banethuba elingu-85% lokuba ngabathwali balesi simo.

Ukuxilongwa ngaphambi kokubeletha kwe-adrenoleukodystrophy exhunywe ku-X kuyatholakala. Kwenziwa ngokuhlola amaseli kusuka kusampuli ye-chorionic villus noma i-amniocentesis. Lezi zivivinyo zibheka ushintsho olwaziwayo lofuzo emndenini noma kumazinga we-fatty acid amade kakhulu.

I-Adrenoleukodystrophy exhunywe ku-X; I-Adrenomyeloneuropathy; I-adrenoleukodystrophy yobuntwana yobuntwana; ALD; ISchilder-Addison Complex

• I-adrenoleukodystrophy yezingane

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