Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Autor:	Wlodarski MW; Department of Hematology, St Jude Children's Research Hospital, Memphis, TN, USA; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: marcin.wlodarski@stjude.org., Vlachos A; Cohen Children's Medical Center, Hematology/Oncology and Stem Cell Transplantation, Hew Hyde Park, NY, USA; Feinstein Institutes for Medical Research, Manhasset, NY, USA; Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA., Farrar JE; Arkansas Children's Research Institute and Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Da Costa LM; Hôpital R. DEBRE, Groupe Hospitalier Universitaire, Assistance Publique-Hôpitaux de Paris Nord, Université de Paris Cité, Paris, France; HEMATIM, EA4666, UPJV, Amiens, France; Le LabEx Gr-Ex - Biogénèse et Pathologies du Globule Rouge, Paris, France., Kattamis A; First Department of Pediatrics, National and Kapodistrian University of Athens, Athens, Greece., Dianzani I; Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy., Belendez C; Pediatric Hematology and Oncology Department, Hospital Universitario Gregorio Marañón, Madrid, Spain; Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain; Instituto Investigación Sanitaria Gregorio Marañón, Madrid, Spain; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Unal S; Hacettepe University, Department of Pediatric Hematology and Research Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara, Turkey., Tamary H; The Rina Zaizov Hematology-Oncology Division, Schneider Children's Medical Center of Israel, Peta Tikvah, Israel; Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel., Pasauliene R; Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania., Pospisilova D; Department of Pediatrics, Faculty Hospital of Palacky University, Olomouc, Czech Republic., de la Fuente J; Department of Paediatrics, St Mary's Hospital, Imperial College Healthcare NHS Trust, London, UK; Department of Immunology and Inflammation, Imperial College London, London, UK., Iskander D; Department of Paediatrics, St Mary's Hospital, Imperial College Healthcare NHS Trust, London, UK; Department of Immunology and Inflammation, Imperial College London, London, UK., Wolfe L; Cohen Children's Medical Center, Hematology/Oncology and Stem Cell Transplantation, Hew Hyde Park, NY, USA; Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA., Liu JM; Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, The Tisch Cancer Institute, New York, NY, USA., Shimamura A; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA., Albrecht K; Department of Oncology, Paediatric Haematology, Clinical Transplantology and Paediatrics, Medical University of Warsaw, Warsaw, Poland., Lausen B; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Bechensteen AG; Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway., Tedgard U; Department of Pediatric Hematology and Oncology, Skåne University Hospital, Lund, Sweden., Puzik A; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Quarello P; Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy., Ramenghi U; Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy., Bartels M; Pediatric Hematology Department, University Medical Center Utrecht, Utrecht, Netherlands., Hengartner H; Pediatric Hospital of Eastern Switzerland St Gallen, St Gallen, Switzerland., Farah RA; Department of Pediatrics, LAU Medical Center-Rizk Hospital, Beirut, Lebanon., Al Saleh M; King Faisal Hospital and Research Center Riyadh, Riyadh, Saudi Arabia., Hamidieh AA; Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran., Yang W; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Ito E; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Kook H; Chonnam National University Hwasun Hospital, Gwangju, South Korea., Ovsyannikova G; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Kager L; St. Anna Children's Hospital, Department of Pediatrics, Medical University Vienna, Vienna, Austria; Children's Cancer Research Institute, Vienna, Austria., Gleizes PE; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UT3, Toulouse, France., Dalle JH; Pediatric Immunology and Hematology Department and CRMR aplasies médullaires, Robert Debré Hospital, Groupe Hospitalier Universitaire, Assistance Publique-Hôpitaux de Paris Nord, Université de Paris Cité, Paris, France., Strahm B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Niemeyer CM; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; German Cancer Consortium, Freiburg, Germany; German Cancer Research Center, Heidelberg, Germany., Lipton JM; Cohen Children's Medical Center, Hematology/Oncology and Stem Cell Transplantation, Hew Hyde Park, NY, USA; Feinstein Institutes for Medical Research, Manhasset, NY, USA; Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA., Leblanc TM; Pediatric Immunology and Hematology Department and CRMR aplasies médullaires, Robert Debré Hospital, Groupe Hospitalier Universitaire, Assistance Publique-Hôpitaux de Paris Nord, Université de Paris Cité, Paris, France.
Jazyk:	angličtina
Zdroj:	The Lancet. Haematology [Lancet Haematol] 2024 May; Vol. 11 (5), pp. e368-e382.
DOI:	10.1016/S2352-3026(24)00063-2
Abstrakt:	Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care. However, gaps remain in effectively bridging scientific discoveries to clinical practice and disseminating the latest knowledge and best practices to providers. Following the publication of the first international consensus in 2008, advances in our understanding of the genetics, natural history, and clinical management of DBA have strongly supported the need for new consensus recommendations. In 2014 in Freiburg, Germany, a panel of 53 experts including clinicians, diagnosticians, and researchers from 27 countries convened. With support from patient advocates, the panel met repeatedly over subsequent years, engaging in ongoing discussions. These meetings led to the development of new consensus recommendations in 2024, replacing the previous guidelines. To account for the diverse phenotypes including presentation without anaemia, the panel agreed to adopt the term DBA syndrome. We propose new simplified diagnostic criteria, describe the genetics of DBA syndrome and its phenocopies, and introduce major changes in therapeutic standards. These changes include lowering the prednisone maintenance dose to maximum 0·3 mg/kg per day, raising the pre-transfusion haemoglobin to 9-10 g/dL independent of age, recommending early aggressive chelation, broadening indications for haematopoietic stem-cell transplantation, and recommending systematic clinical surveillance including early colorectal cancer screening. In summary, the current practice guidelines standardise the diagnostics, treatment, and long-term surveillance of patients with DBA syndrome of all ages worldwide. Competing Interests: Declaration of interests AK declares honoraria from chiesi and Novartis and a research grant from Novaris. AK is on the advisory board of Chiesi and Novartis. FML declares honoraria from Chiesi and is on the advisory board of Chiesi. LK is on the advisory board of Agios, Amgen, Bayer, and Novartis. All other authors declare no competing interests. (Copyright © 2024 Elsevier Ltd. All rights reserved.)
Databáze:	MEDLINE
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