Adrenoleukodystrophy

Adrenoleukodystrophy imafotokoza zovuta zingapo zokhudzana kwambiri zomwe zimasokoneza kuwonongeka kwa mafuta ena. Matendawa nthawi zambiri amapatsidwa (kubadwa nawo) m'mabanja.

Adrenoleukodystrophy nthawi zambiri imaperekedwa kuchokera kwa kholo kupita kwa mwana ngati mawonekedwe olumikizidwa ndi X. Zimakhudza makamaka amuna. Amayi ena omwe amanyamula amatha kukhala ndi matenda ofatsa. Zimakhudza pafupifupi munthu m'modzi mwa anthu 20,000 ochokera m'mitundu yonse.

Vutoli limabweretsa kuchuluka kwamafuta-atali atali kwambiri amchere mu dongosolo lamanjenje, adrenal gland, ndi testes. Izi zimasokoneza zochitika zanthawi zonse mthupi lino.

Pali mitundu itatu yayikulu yamatenda:

• Maonekedwe aubongo waubwana - amapezeka pakati paubwana (ali ndi zaka 4 mpaka 8)
• Adrenomyelopathy - imapezeka mwa amuna azaka za m'ma 20 kapena mtsogolo
• Ntchito yokhudzana ndi adrenal gland (yotchedwa Addison matenda kapena Addison-like phenotype) - adrenal gland siyimapanga mahomoni okwanira a steroid

Zizindikiro zamtundu waubwana monga:

• Kusintha kwa kamvekedwe ka minofu, makamaka kutuluka kwa minofu ndi mayendedwe osalamulirika
• Maso owoloka
• Zolemba pamanja zomwe zimaipiraipira
• Zovuta kusukulu
• Zovuta kumvetsetsa zomwe anthu akunena
• Kutaya kwakumva
• Kutengeka
• Kuchulukitsa kuwonongeka kwamanjenje, kuphatikizapo kukomoka, kuchepa kwamagalimoto oyenda bwino, ndi ziwalo
• Kugwidwa
• Kumeza zovuta
• Kuwonongeka kwamaso kapena khungu

Zizindikiro za Adrenomyelopathy ndi monga:

• Zovuta kuwongolera kukodza
• Kutha kufooka kwa minofu kapena kuuma kwa mwendo
• Mavuto ndi liwiro la kulingalira komanso kukumbukira kwamawonekedwe

Matenda a Adrenal gland (mtundu wa Addison) ndi awa:

• Coma
• Kuchepetsa chilakolako
• Kuchuluka kwa khungu
• Kuchepetsa thupi ndi kulemera kwa minofu (kuwononga)
• Minofu kufooka
• Kusanza

Kuyesedwa kwa chikhalidwe ichi ndi monga:

• Magazi amtundu wautali kwambiri wamafuta acid ndi mahomoni omwe amapangidwa ndi adrenal gland
• Kafukufuku wa Chromosome kuti ayang'ane kusintha (kusintha) mu Zamgululi jini
• MRI ya mutu
• Khungu lakhungu

Kulephera kwa adrenal kumatha kuthandizidwa ndi ma steroids (monga cortisol) ngati vuto la adrenal silikupanga mahomoni okwanira.

Mankhwala apadera a X-adrenoleukodystrophy olumikizidwa ndi X sapezeka. Kumanga mafupa kumatha kusiya kukulirakulirako.

Kusamalira ndi kuwunika mosamala kwa vuto la adrenal gland kumatha kuthandizira kukulitsa moyo wabwino.

Zida zotsatirazi zitha kupereka zambiri pa adrenoleukodystrophy:

• National Organisation for Rare Disease Disways - rarediseases.org/rare-diseases/adrenoleukodystrophy
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Maonekedwe aubwana a X-adrenoleukodystrophy olumikizidwa ndi X ndi matenda omwe amapita patsogolo. Zimatsogolera ku chikomokere cha nthawi yayitali (vegetative state) pafupifupi zaka ziwiri zitayamba kuwonekera kwamanjenje. Mwanayo akhoza kukhala mumkhalidwewu mpaka zaka 10 mpaka kumwalira.

Mitundu ina ya matendawa ndiyofatsa.

Zovuta izi zitha kuchitika:

• Mavuto a adrenal
• Dziko lazomera

Imbani wothandizira zaumoyo wanu ngati:

• Mwana wanu amakhala ndi zizindikiro za adrenoleukodystrophy yolumikizidwa ndi X
• Mwana wanu ali ndi X-adrenoleukodystrophy yolumikizidwa ndi X ndipo akukulirakulira

Upangiri wa chibadwa umalimbikitsidwa kwa maanja omwe ali ndi mbiri yabanja ya X yolumikizidwa ndi adrenoleukodystrophy. Amayi a ana okhudzidwa ali ndi mwayi 85% wonyamula vutoli.

Matendawa asanabadwe a X-adrenoleukodystrophy okhudzana ndi X amapezekanso. Zimachitika poyesa maselo kuchokera ku chorionic villus sampling kapena amniocentesis. Mayeserowa amayang'ana kusintha kwamtundu wamtundu m'banja kapena kwa ma asidi ambiri.

X yolumikizidwa ndi Adrenoleukodystrophy; Adrenomyeloneuropathy; Ubwana ubongo adrenoleukodystrophy; ALD; Schilder-Addison Complex

• Neonatal adrenoleukodystrophy

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Lissauer T, Carroll W. Matenda amitsempha. Mu: Lissauer T, Carroll W, olemba., Eds. Buku Lofotokozera la Paediatrics. 5th ed. Philadelphia, PA: Elsevier; 2018: mutu 29.

Stanley CA, Bennett MJ. Zofooka za kagayidwe ka lipids. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 104.

Vanderver A, Wolf NI. Matenda a chibadwa ndi kagayidwe kake ka zoyera. Mu: Swaiman KF, Ashwal S, Ferriero, et al, olemba. Swaiman's Pediatric Neurology. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2017: mutu 99.