Iadrenoleukodystrophy

I-Adrenoleukodystrophy ichaza iingxaki ezininzi ezinxulumene ngokusondeleyo eziphazamisa ukwaphuka kwamafutha athile. Ezi ngxaki zihlala zidluliswa (zizuzwe njengelifa) kwiintsapho.

I-Adrenoleukodystrophy ihlala idluliswa isuka kumzali iye emntwaneni njengeempawu ezihambelana ne-X. Ichaphazela ikakhulu abesilisa. Abanye abantu basetyhini abaphetheyo banokuba neendlela ezinobuzaza besi sifo. Ichaphazela malunga ne-1 kubantu abangama-20 000 abavela kuzo zonke iintlanga.

Imeko ikhokelela ekwakhiweni kwee-acid ezinamaxesha amade kakhulu kwinkqubo yeemvakalelo, iadrenal gland, kunye neevithingi. Oku kuphazamisa isenzo esiqhelekileyo kula malungu omzimba.

Zintathu iindidi eziphambili zesifo:

• Ifom yobuntwana yobuchopho-ibonakala phakathi ebuntwaneni (kwiminyaka eyi-4 ukuya kwe-8)
• I-Adrenomyelopathy-yenzeka kumadoda akwiminyaka engama-20 okanye kamva ebomini
• Umsebenzi we-adrenal gland ongasebenzi kakuhle (obizwa ngokuba sisifo iAdisonison okanye iAdison-efana ne phenotype) -i-adrenal gland ayivelisi ngokwaneleyo iihomoni ze-steroid

Iimpawu zobuntwana besifo sobuchopho zibandakanya:

• Utshintsho kwithoni yemisipha, ngakumbi ukungxama kwemisipha kunye nokuhamba okungalawulekiyo
• Amehlo awele
• Ukubhala ngesandla kuya kusiba mandundu
• Ubunzima esikolweni
• Kunzima ukuqonda ukuba bathini abantu
• Ukuphulukana nokuva
• Ukusebenza kakhulu
• Ukwanda kwenkqubo yemithambo-luvo, kubandakanya isiqaqa, ukwehla kolawulo lweemoto, kunye nokukhubazeka
• Ukuxhuzula
• Ukuginya ubunzima
• Ukungaboni kakuhle okanye ukungaboni

Iimpawu zeAdrenomyelopathy zibandakanya:

• Kunzima ukulawula ukuchama
• Ubunzima bokuba buthathaka kwemisipha okanye ukuqina komlenze
• Iingxaki ngesantya sokucinga kunye nememori ebonakalayo

Ukungaphumeleli kwe-adrenal gland (uhlobo lweAdisonison) kubandakanya:

• Coma
• Ukunciphisa ukutya
• Ukwanda kombala wesikhumba
• Ukuphulukana nobunzima kunye nobunzima bemisipha (ukumosha)
• Ubuthathaka bemisipha
• Ukuhlanza

Uvavanyo lwale meko lubandakanya:

• Amanqanaba egazi e-asidi ende kunye neehomoni eziveliswa yi-adrenal gland
• Isifundo seChromosome ukukhangela utshintsho (utshintsho) kwi IABCD1 Uhlobo
• I-MRI yentloko
• Ulusu lwe-biopsy

Ukungasebenzi kakuhle kwe-Adrenal kunganyangwa nge-steroids (njenge-cortisol) ukuba i-adrenal gland ayivelisi iihormoni ezaneleyo.

Unyango oluthile lwe-X enxulumene ne-adrenoleukodystrophy ayifumaneki. Ukufakelwa komongo wethambo kunokuyeka ukwanda kwemeko.

Unonophelo oluxhasayo kunye nokujonga ngononophelo ukungasebenzi kakuhle kwe-adrenal gland kunganceda ekuphuculeni intuthuzelo kunye nomgangatho wobomi.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-adrenoleukodystrophy:

• Umbutho weSizwe wezifo ezinqabileyo zezifo- rarediseases.org/rare-diseases/adrenoleukodystrophy
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Uhlobo lobuntwana lwe-X edityaniswe ne-adrenoleukodystrophy sisifo esiqhubela phambili. Ikhokelela kwikoma yexesha elide (imeko yezityalo) malunga neminyaka emi-2 emva kokuba iimpawu zenkqubo yemithambo-luvo zikhula. Umntwana unokuhlala kule meko iminyaka eli-10 ade afe.

Ezinye iintlobo zesi sifo zinzima.

Ezi ngxaki zinokwenzeka:

• Ingxaki yeAdrenal
• Urhulumente wezityalo

Fowunela umboneleli wakho wezempilo ukuba:

• Umntwana wakho uvelisa iimpawu ze-X adrenoleukodystrophy
• Umntwana wakho une-X edityaniswe ne-adrenoleukodystrophy kwaye uya esiba mandundu

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezinembali yosapho ye-X enxulumene ne-adrenoleukodystrophy. Oomama boonyana abachaphazelekayo banethuba lama-85% lokuba ngabathwali bale meko.

Ukuxilongwa kwangaphambi kokubeleka kwe-X adrenoleukodystrophy enxulumene ne-X ikwafumaneka. Yenziwa ngokuvavanya iiseli ezivela kwisampulu ye-chorionic villus okanye i-amniocentesis. Olu vavanyo lukhangela utshintsho olwaziwayo kwimfuzo kusapho okanye kumanqatha amade okunamafutha acid.

X-enxulumene Adrenoleukodystrophy; Adrenomyeloneuropathy; I-adrenoleukodystrophy yobuntwana; I-ALD; Isakhiwo seSchilder-Addison

• I-adrenoleukodystrophy engapheliyo

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