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Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
MW. Wlodarski, A. Vlachos, JE. Farrar, LM. Da Costa, A. Kattamis, I. Dianzani, C. Belendez, S. Unal, H. Tamary, R. Pasauliene, D. Pospisilova, J. de la Fuente, D. Iskander, L. Wolfe, JM. Liu, A. Shimamura, K. Albrecht, B. Lausen, AG. Bechensteen,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
Grantová podpora
R01 HL150194
NHLBI NIH HHS - United States
- MeSH
- Diamondova-Blackfanova anemie * diagnóza terapie genetika MeSH
- konsensus * MeSH
- lidé MeSH
- management nemoci MeSH
- transplantace hematopoetických kmenových buněk MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
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.
1st Department of Pediatrics National and Kapodistrian University of Athens Athens Greece
Children's Cancer Research Institute Vienna Austria
Chonnam National University Hwasun Hospital Gwangju South Korea
Dana Farber Boston Children's Cancer and Blood Disorders Center Harvard Medical School Boston MA USA
Department of Health Sciences Università del Piemonte Orientale Novara Italy
Department of Hematology St Jude Children's Research Hospital Memphis TN USA
Department of Immunology and Inflammation Imperial College London London UK
Department of Paediatrics St Mary's Hospital Imperial College Healthcare NHS Trust London UK
Department of Pediatric and Public Health Sciences University of Turin Turin Italy
Department of Pediatric Hematology and Oncology Oslo University Hospital Oslo Norway
Department of Pediatric Hematology and Oncology Skåne University Hospital Lund Sweden
Department of Pediatrics Faculty Hospital of Palacky University Olomouc Czech Republic
Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
Department of Pediatrics LAU Medical Center Rizk Hospital Beirut Lebanon
Facultad de Medicina Universidad Complutense de Madrid Madrid Spain
Feinstein Institutes for Medical Research Manhasset NY USA
Felsenstein Medical Research Center Sackler School of Medicine Tel Aviv University Tel Aviv Israel
German Cancer Consortium Freiburg Germany
German Cancer Research Center Heidelberg Germany
HEMATIM EA4666 UPJV Amiens France
Instituto Investigación Sanitaria Gregorio Marañón Madrid Spain
King Faisal Hospital and Research Center Riyadh Riyadh Saudi Arabia
Le LabEx Gr Ex Biogénèse et Pathologies du Globule Rouge Paris France
MCD Centre de Biologie Intégrative Université de Toulouse CNRS UT3 Toulouse France
Pediatric Hematology and Oncology Department Hospital Universitario Gregorio Marañón Madrid Spain
Pediatric Hematology Department University Medical Center Utrecht Utrecht Netherlands
Pediatric Hospital of Eastern Switzerland St Gallen St Gallen Switzerland
St Anna Children's Hospital Department of Pediatrics Medical University Vienna Vienna Austria
Vilnius University Hospital Santaros Klinikos Vilnius Lithuania
Zucker School of Medicine at Hofstra Northwell Hempstead NY USA
Citace poskytuje Crossref.org
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- $a Wlodarski, Marcin W $u 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
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