Immunodeficiency and hemolytic uremic syndrome: a case report
Turkish Journal of Pediatrics, cilt.67, sa.5, ss.732-739, 2025 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 67 Sayı: 5
- Basım Tarihi: 2025
- Doi Numarası: 10.24953/turkjpediatr.2025.5614
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.732-739
- Anahtar Kelimeler: ataxia telangiectasia, hemolytic uremic syndrome, Shiga toxin, immunodeficiency
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Background. Ataxia-telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency, predisposing affected individuals to recurrent and severe infections. This case report presents a rare example of Shiga toxin-producing Escherichia coli (STEC)-associated hemolytic uremic syndrome (HUS) in a 12-year-old boy with a known diagnosis of A-T. To our knowledge, this is the first reported case of STEC-HUS in a patient with A-T. Case Presentation. The patient presented with vomiting and bloody diarhea Investigations revealed hemolytic anemia, thrombocytopenia, and acute kidney injury. The patient received intravenous immunoglobulin, albumin, and continuous renal replacement therapy and recovered. Conclusion. This case highlights the increased susceptibility of individuals with A-T to infections and the potential for life-threatening complications, such as HUS. The coexistence of A-T and STEC-HUS presentes unique challenges in diagnosis and management. Early recognition and targeted treatment led to a successful recovery and underscored the importance of close follow-up in immunodeficient patients.