{"id":3310,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/adrenoleukodystrophy-me\/"},"modified":"2026-05-02T05:14:20","modified_gmt":"2026-05-02T05:14:20","password":"","slug":"adrenoleukodystrophy-me","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/me\/docs\/adrenoleukodystrophy-me\/","title":{"rendered":"Adrenoleukodistrofija"},"content":{"rendered":"

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Adrenoleukodistrofija (X-ALD).<\/strong> X-vezana recesivna peroksizomalna bolest izazvana mutacijama u ABCD1 genu, koja dovodi do nakupljanja vrlo dugolan\u010danih masnih kiselina (VLCFA) i progresivne demijelinizacije. Klini\u010dki fenotipovi: dje\u010dja cerebralna forma (brzo progresivna, 4-10 god), adrenomijelinoneuropatija (po\u010detak u odrasloj dobi), samo Addisonova bolest. Dijagnoza: plazma VLCFA + ABCD1 sekvenciranje. Lije\u010denje: HSCT u ranoj cerebralnoj bolesti (spasavaju\u0107e), zamjena adrenalnih hormona, genska terapija (elivaldogene autotemcel\/Skysona, EU odobrena).<\/p>\n

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Adrenol\u00f6kodistrofi Nedir?<\/strong>
\nAdrenol\u00f6kodistrofi (ALD) metabolik bir hastal\u0131kt\u0131r. X kromozomu \u00fczerinde bulunan ABCD1\u00a0 geni mutasyonlar\u0131 sonucu\u00a0 g\u00f6r\u00fcl\u00fcr. Hastal\u0131k v\u00fccudun ya\u011f metabolizmas\u0131n\u0131 bozar. \u00c7ok uzun ya\u011f asidi zincirlerinin ba\u015fta merkezi sinir sisteminde olmak \u00fczere, \u00e7e\u015fitli dokularda birikmesine neden olur.<\/p>\n

ALD, b\u00f6brek \u00fcst\u00fc bezlerindeki peroksizomlar\u0131n bozuklu\u011fundan kaynaklan\u0131r. \u00c7\u00fcnk\u00fc bu organeller, v\u00fccudun ya\u011f asitlerini i\u015flemek i\u00e7in \u00f6nemlidir. Bozuk peroksizomlar, uzun zincirli ya\u011f asitlerinin birikmesine neden olur. B\u00f6ylece beyin, omurilik ve sinir sistemine zarar verebilir.<\/p>\n

Son olarak adrenol\u00f6kodistrofi, n\u00f6rolojik bulgular\u0131n varl\u0131\u011f\u0131na ve tipine ba\u011fl\u0131 olarak \u00e7e\u015fitli ya\u015flarda ve farkl\u0131 belirtilerle ortaya \u00e7\u0131kabilir. Temel olarak 7 farkl\u0131 fenotip tan\u0131mlanm\u0131\u015ft\u0131r. Bunlar \u00e7ocukluk serebral formu, adrenomyelone\u00f6ropati (AMN), eri\u015fkin serebraldir. Ayr\u0131ca ergen, n\u00f6rolojik hastal\u0131\u011f\u0131 olmayan adrenal yetmezlik, asemptomatik ve heterozigot ta\u015f\u0131y\u0131c\u0131l\u0131kt\u0131r.<\/p>\n\n\n\n\n\n\n\n\n
Gen :<\/strong><\/td>\nABCD1<\/td>\n<\/tr>\n
Y\u00f6ntem :<\/strong><\/td>\nT\u00fcm Gen Dizi Analizi<\/td>\n<\/tr>\n
Raporlama S\u00fcresi :<\/strong><\/td>\n6-8 Hafta (+\/- 2 Hafta)<\/td>\n<\/tr>\n
Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\nPostnatal<\/td>\n<\/tr>\n
Gerekli Numune<\/strong>:<\/td>\nEDTA’l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n
Saklama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

T\u00fcm genetik testlerimiz “Hasta Onam Formu”<\/strong> ve “KVKK Formu”<\/strong>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\n

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Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n\n\n\n
[contact-form-7 id=”710″ title=”genetik ba\u015fvuru”]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131 ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. genoks.com.tr web sayfas\u0131nda bulunan bilgiler, genetik de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r. T\u00fcm i\u00e7erikler bilgilendirme ama\u00e7l\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"

Adrenoleukodistrofija (X-ALD). X-vezana recesivna peroksizomalna bolest izazvana mutacijama u ABCD1 genu, koja dovodi do nakupljanja vrlo dugolan\u010danih masnih kiselina (VLCFA) i progresivne demijelinizacije. Klini\u010dki fenotipovi: dje\u010dja cerebralna forma (brzo progresivna, 4-10 god), adrenomijelinoneuropatija (po\u010detak u odrasloj dobi), samo Addisonova bolest. [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[210],"doc_tag":[],"class_list":["post-3310","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests-me"],"aioseo_notices":[],"year_month":"2026-05","word_count":342,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/me\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetski testovi","term_url":"https:\/\/genoks.com.tr\/me\/docs-category\/genoks-gdhm-genetic-tests-me\/"}],"doc_tag_info":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t