X-linked hiper IgM sendromu (XHIMS) IgA ve IgG azalmasi, IgM artmasi ve CD40L (CD154) yoklugu ile karakterize ender görülen primer immun yetmezlik hastaligidir ve Xq26 pozisyonunda bulunan CD40L gen defekti sonucu ortaya çikar. Antibiyotik tedavisine dirençli, tekrarlayici ve hizli seyirli pnömoni nedeniyle tedavi edilen bes aylik bebekte saptadigimiz XHIMS olgumuzu sunmayi amaçladik. OLGU: 5 aylik erkek hasta, 3 aydir tekrarlayan öksürük ve pnömoni nedeniyle interne edildi. Ebeveynleri akrabaydi. Fizik muayenede; kilosu 6700gr (%25), boyu 65cm (%50-75) idi. Patolojik bulgular olarak oskültasyonla akcigerlerde krepitan raller, hepatomegali ve splenomegali saptandi. Laboratuar tetkiklerinde lökosit 4.000/mm3, hemoglobin 8.7g/dl, hematokrit %26, MCV 69flt, trombosit 375.000/mm3, mutlak nötrofil 1560/µl, mutlak lenfosit 1840/µl, IgA 3mg/dl, IgG 21mg/dl, IgM 142mg/dl bulundu. IgG1 13mg/dl, IgG2 7.6mg/dl, IgG3 2.2mg/dl, IgG4 0.5mg/dl idi. PPD negatif idi. T-hücre göstergeleri olan CD3 %86, CD4 %41, CD8 %40, B-hücre göstergeleri olan CD19 %10, CD20 %10, natural killer göstergesi olan CD 16/56 %3 idi. CD45 %98, CD50 %140 iken CD40 ligand (CD154) %0 bulundu. Tedavide teikoplanin, meropenem ve IVIG kullanildi. P.Carinii profilaksisi için trimethoprim-sülfametaksazol baslandi. 3 hafta aralarla IVIG tedavisi planlandi. Hastamizin IgM seviyesi normal iken IgA ve IgG seviyesi azalmistir. Tani vakalarin çogunda bir-iki yas arasinda konulur. Olgumuza 5 aylikken erken bir zamanda tani konulmus olmasi ve XHIMS nun ender görülmesi nedeniyle sunulmustur.
X-linked Hiper Ig M Sendromlu Bes Aylik Erkek Çocuk: Olgu Sunumu - Poster 65
Case Report
X-linked Hiper Ig M Sendromlu Bes Aylik Erkek Çocuk: Olgu Sunumu - Poster 65
J Curr Pediatr 2006;4(1)
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- 1Sakarya Üniversitesi Saglik Yüksek Okulu, Sakarya
- 2Sakarya Haydarpasa Numune Egitim Ve Arastirma Hastanesi, Istanbul
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