Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis
We report two novel <i>ATM</i> variants (c.8357G>T, IVS54+3A>C) in a patient with classic AT who developed severe hemorrhagic cystitis associated with bladder wall telangiectasia. AT patients may be at risk for delayed, potentially life-threatening hemorrhagic cystitis, particularly following cyclophosphamide exposure. Cystoscopy is essential for diagnosis and enables timely endoscopic management.
Authors
- Yujie Lin (ORCID: https://orcid.org/0000-0002-2146-0626)
- Yuwei Xian
- H. Song
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
- Qingdao Municipal Hospital (CN)
- Qingdao Women and Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-02-26
- DOI
- https://doi.org/10.3389/fped.2026.1740485
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00