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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes, Ryan W; Chiou, Eric H; Queliza, Karen; Shouval, Dror S; Somech, Raz; Agarwal, Suneet; Jajoo, Kunal; Ziegler, David S; Kratz, Christian P; Huang, James; Lucas, Tiffany L; Myers, Kasiani C; Nelson, Adam S; DiNardo, Courtney D; Alter, Blanche P; Giri, Neelam; Khincha, Payal P; McReynolds, Lisa J; Dufour, Carlo; Pierri, Filomena; Goldman, Frederick D; Sherif, Youmna; Savage, Sharon A; Miloh, Tamir; Bertuch, Alison A.
Afiliação
  • Himes RW; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine and Texas Children's Hospital, Houston, TX; Section of Gastroenterology and Hepatology, Department of Pediatrics, Ochsner Health, New Orleans, LA. Electronic address: ryan.himes@ochsner.org.
  • Chiou EH; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
  • Queliza K; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine and Texas Children's Hospital, Houston, TX; Gastroenterology, Hepatology and Nutrition Service, Memorial Sloan Kettering Cancer Center, New York, NY.
  • Shouval DS; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Somech R; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Agarwal S; Boston Children's Hospital, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, MA.
  • Jajoo K; Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
  • Ziegler DS; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Huang J; Division of Hematology/Oncology, Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA.
  • Lucas TL; Division of Hematology/Oncology, Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA.
  • Myers KC; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Nelson AS; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • DiNardo CD; MD Anderson Cancer Center, Houston, TX.
  • Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
  • Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
  • Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
  • McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
  • Dufour C; Hemato-Oncology-Stem Cell Transplant Pole, IRCCS Giannina Gaslini, Genoa, Italy.
  • Pierri F; Hemato-Oncology-Stem Cell Transplant Pole, IRCCS Giannina Gaslini, Genoa, Italy.
  • Goldman FD; Department of Pediatrics, University of Alabama-Birmingham, Birmingham, AL.
  • Sherif Y; Department of Surgery, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
  • Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
  • Miloh T; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine and Texas Children's Hospital, Houston, TX; Miami Transplant Institute, University of Miami, Miami, FL.
  • Bertuch AA; Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
J Pediatr ; 230: 55-61.e4, 2021 03.
Article em En | MEDLINE | ID: mdl-32971146
OBJECTIVE: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus. STUDY DESIGN: Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record. RESULTS: Sixteen patients who experienced GI hemorrhage were identified at 11 centers. Among 14 patients who underwent genetic testing, 8 had mutations in TINF2, 4 had mutations in CTC1 or STN1, and 1 patient each had a mutation in TERC and RTEL1. Ten patients had a history of hematopoietic cell transplantation. The patients with Coats plus and those without Coats plus had similar clinical features and courses. Angiodysplasia of the stomach and/or small bowel was described in 8 of the 12 patients who underwent endoscopy; only 4 had esophageal varices. Various medical interventions were trialed. No single intervention was uniformly associated with cessation of bleeding, although 1 patient had a sustained response to treatment with bevacizumab. Recurrence was common, and the overall long-term outcome for affected patients was poor. CONCLUSIONS: GI bleeding in patients with telomere biology disorders is associated with significant morbidity and with vascular ectasias rather than varices.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telômero / Hemorragia Gastrointestinal Tipo de estudo: Clinical_trials / Prognostic_studies Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telômero / Hemorragia Gastrointestinal Tipo de estudo: Clinical_trials / Prognostic_studies Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article