Adrenoleukodystrophy

Adrenoleukodystrophy inotsanangura matambudziko akati wandei ane hukama anokanganisa kuparara kwemamwe mafuta. Aya matambudziko anowanzo kupfuudzwa (kugara nhaka) mumhuri.

Adrenoleukodystrophy inowanzo pfuudzwa kubva kumubereki kuenda kumwana se X-inosanganisirwa geni maitiro. Inobata zvakanyanya varume. Vamwe vakadzi vanotakura vanogona kuve nemhando dzakapusa dzechirwere. Inobata nezve 1 mu 20,000 vanhu vanobva kumarudzi ese.

Mamiriro acho anokonzeresa mukuvaka kweakanyanya-marefu-ngetani mafuta acids muhurongwa hwemitsipa, adrenal gland, uye testes. Izvi zvinokanganisa chiitiko chakajairika munzvimbo dzino dzemuviri.

Kune matatu matatu akakosha ezvirwere:

• Yehucheche fomu fomu - inoonekwa pakati-pehucheche (pamazera mana kusvika masere).
• Adrenomyelopathy - inoitika mune varume vane makore makumi maviri kana gare gare muhupenyu
• Kushaya simba adrenal gland basa (inonzi Addison chirwere kana Addison-yakaita phenotype) - adrenal gland haina kuburitsa yakakwana steroid mahormone

Zvirwere zvehucheche mhando zviratidzo zvinosanganisira:

• Shanduko musoni toni, kunyanya mhasuru mhasuru uye kusadzora mafambiro
• Maziso akayambuka
• Runyoro runowedzera
• Zvakaoma kuchikoro
• Zvakaoma kunzwisisa zviri kutaurwa nevanhu
• Kunzwa kurasikirwa
• Kusanyanyisa
• Kuwedzera kukuvara kwehurongwa hwemitsipa, kusanganisira coma, kudzikira kwekudzora mota, uye kuoma mitezo
• Kufenda
• Kumedza matambudziko
• Kukanganisa kwekuona kana kupofu

Adrenomyelopathy zviratidzo zvinosanganisira:

• Zvakaoma kudzora weti
• Zvinogona kuwedzera kusimba kwemhasuru kana kuomarara kwemakumbo
• Matambudziko nekufunga kwekumhanya uye yekuona ndangariro

Adrenal gland kutadza (Addison mhando) zviratidzo zvinosanganisira:

• Coma
• Kuderedza kudya
• Kuwedzera ruvara rweganda
• Kurasikirwa kwehuremu uye mhasuru (kutambisa)
• Tsvina kushaya simba
• Kusvipa

Kuyedzwa kwechiitiko ichi kunosanganisira:

• Ropa mazinga emaketeni marefu kwazvo mafuta acids uye mahormone ayo anogadzirwa neadrenal gland
• Chromosome kudzidza kutsvaga shanduko (shanduko) mu ABCD1 geni
• MRI yemusoro
• Ganda biopsy

Adrenal kusagadzikana kunogona kurapwa neasteroid (senge cortisol) kana adrenal gland isiri kuburitsa mahormone akakwana.

Imwe yakatarwa kurapwa yeX-yakabatana adrenoleukodystrophy haiwanikwe. Kupfupa kwemongo wemapfupa kunogona kumisa kuwedzera kwemamiriro acho.

Kuchengetedzwa kwekutsigira uye kunyatso tarisa kweakaremara adrenal gland basa kunogona kubatsira mukuvandudza nyaradzo uye hupenyu hwehupenyu.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve adrenoleukodystrophy:

• Sangano reNyika reRare Zvirwere Dambudziko - rarediseases.org/rare-diseases/adrenoleukodystrophy
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

Chimiro chehucheche cheX-chakabatana adrenoleukodystrophy chirwere chinofambira mberi. Inotungamira kune refu-refu coma (inomera mamiriro) anenge makore maviri mushure mekutya kwehurongwa zviratidzo. Mwana anokwanisa kugara mune izvi kwenguva yakareba semakore gumi kusvikira kufa kwaitika.

Dzimwe mhando dzechirwere ichi dzakareruka.

Aya matambudziko anogona kuitika:

• Dambudziko reAdrenal
• Vezvirimwa mamiriro

Fonera wako mupi wezvehutano kana:

• Mwana wako anovandudza zviratidzo zveX-zvakabatana adrenoleukodystrophy
• Mwana wako ane X-akabatana adrenoleukodystrophy uye ari kuramba achiwedzera

Genetic counselling inokurudzirwa kune vakaroorana vane nhoroondo yemhuri yeX-yakabatana adrenoleukodystrophy. Vanamai vevakomana vane njodzi vane 85% mukana wekuva mutakuri wechiitiko ichi.

Prenatal kuongororwa kweX-kwakabatana adrenoleukodystrophy inowanikwawo. Izvo zvinoitwa nekuyedza maseru kubva ku chorionic villus sampling kana amniocentesis. Aya mabvunzo anotarisa chero anozivikanwa ekushanduka kwemajini mumhuri kana kwenguva refu kwazvo cheni yemafuta acid mazinga.

X-yakabatana Adrenoleukodystrophy; Adrenomyeloneuropathy; Udiki cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

• Neonatal adrenoleukodystrophy

James WD, Berger TG, Elston DM. Zvikanganiso mu metabolism. Muna: James WD, Berger TG, Elston DM, eds. Andrews 'Zvirwere zveGanda: Clinical Dermatology. 12th ed. Philadelphia, PA: Elsevier; 2016: chitsiko 26.

Lissauer T, Carroll W. Neurological kusagadzikana. Mune: Lissauer T, Carroll W, eds. Yakafananidzirwa Rugwaro rwePaediatrics. 5 ed. Philadelphia, PA: Elsevier; 2018: chitsiko 29.

Stanley CA, Bennett MJ. Kukanganisa mune metabolism ye lipids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 104.

Vanderver A, Wolf NI. Genetic uye metabolic kusagadzikana kweiyo chena nyaya. Mune: Swaiman KF, Ashwal S, Ferriero, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Philadelphia, PA: Elsevier; 2017: chits. 99.