{"id":3347,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/cyclic-neutropenia-sr\/"},"modified":"2026-05-02T05:14:23","modified_gmt":"2026-05-02T05:14:23","password":"","slug":"cyclic-neutropenia-sr","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/sr\/docs\/cyclic-neutropenia-sr\/","title":{"rendered":"Cikli\u010dna neutropenija"},"content":{"rendered":"

<\/p>\n

Cikli\u010dna neutropenija.<\/strong> Autozomno dominantni poreme\u0107aj izazvan mutacijama u ELANE genu, karakterisan redovnim ~21-dnevnim oscilacijama u broju neutrofila, sa fazama te\u0161ke neutropenije koje traju 3-5 dana. Klini\u010dka obele\u017eja: ponavljaju\u0107e groznice, oralne ulceracije, gingivitis, ko\u017ene i respiratorne infekcije tokom nadira. Dijagnoza: serijska CBC tokom 6 nedelja + ELANE sekvenciranje. Le\u010denje: G-CSF (filgrastim) efikasno smanjuje frekvenciju infekcija; HSCT za te\u0161ku bolest.<\/p>\n

<\/p>\n

Siklik N\u00f6tropeni Nedir ?<\/strong>
\nSiklik n\u00f6tropeni, genellikle \u00e7ocukluk \u00e7a\u011f\u0131nda g\u00f6r\u00fclen bir t\u00fcr n\u00f6tropenidir. N\u00f6tropeni, v\u00fccuttaki beyaz kan h\u00fccrelerinin (n\u00f6trofillerin) say\u0131s\u0131n\u0131n normalin alt\u0131nda olmas\u0131 durumudur. Siklik n\u00f6tropeni ise, n\u00f6trofillerin d\u00fc\u015f\u00fck seviyelerde oldu\u011fu belirli periyodlarla tekrarlayan bir n\u00f6tropeni formudur.<\/p>\n

Siklik n\u00f6tropeni ELANE gen mutasyonu sebebi ile olu\u015fmatad\u0131r. Bu durumun semptomlar\u0131, genellikle 3-5 g\u00fcn s\u00fcren, s\u0131k tekrarlayan ate\u015fli enfeksiyonlar, a\u011f\u0131z yaralar\u0131, bademciklerde \u015fi\u015fme ve kulak enfeksiyonlar\u0131 gibi enfeksiyonlard\u0131r. Siklik n\u00f6tropeni olan \u00e7ocuklar, enfeksiyonlar s\u0131ras\u0131nda daha ciddi semptomlar geli\u015ftirme e\u011filimindedirler.<\/p>\n

Siklik n\u00f6tropeni tan\u0131s\u0131, n\u00f6trofil say\u0131s\u0131ndaki d\u00fc\u015f\u00fc\u015fe dayanarak konulur. Bu durumun tedavisi, enfeksiyonlar\u0131n \u00f6nlenmesi i\u00e7in koruyucu antibiyotiklerin kullan\u0131m\u0131n\u0131 i\u00e7erir. Baz\u0131 vakalarda, n\u00f6trofil say\u0131s\u0131n\u0131 art\u0131rmak i\u00e7in G-CSF tedavisi uygulan\u0131r . Siklik n\u00f6tropeni semptomlar\u0131 ya\u015f ile birlikte a\u015famal\u0131 olarak azabilmektedir.<\/p>\n\n\n\n\n\n\n\n\n
Gen :<\/strong><\/td>\nELANE<\/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

\n

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":"

Cikli\u010dna neutropenija. Autozomno dominantni poreme\u0107aj izazvan mutacijama u ELANE genu, karakterisan redovnim ~21-dnevnim oscilacijama u broju neutrofila, sa fazama te\u0161ke neutropenije koje traju 3-5 dana. Klini\u010dka obele\u017eja: ponavljaju\u0107e groznice, oralne ulceracije, gingivitis, ko\u017ene i respiratorne infekcije tokom nadira. Dijagnoza: serijska [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[208],"doc_tag":[],"class_list":["post-3347","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests-sr"],"aioseo_notices":[],"year_month":"2026-05","word_count":354,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/sr\/author\/admin\/"},"doc_category_info":[{"term_name":"\u0413\u0435\u043d\u0435\u0442\u0441\u043a\u0438 \u0442\u0435\u0441\u0442\u043e\u0432\u0438 Genoks GDHM","term_url":"https:\/\/genoks.com.tr\/sr\/docs-category\/genoks-gdhm-genetic-tests-sr\/"}],"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