Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia
| Autor: | Edyta Niewiadomska, Kelsie Storm, Suneet Agarwal, Aneta Pobudejska-Pieniazek, Halina Bubała, Roxanne Ghazvinian, Magdalena Mazur-Popinska, Krzysztof Kałwak, Mary Jane Petruzzi, Mark D. Fleming, Salley G. Pels, Meghan A. Higman, Rebecca L. Zon, Hanna T. Gazda, Sydonia Golebiowska, Peter Kurre, Tomasz Szczepański, Daniel Yuan, Michał Matysiak, Katelyn E. Gagne, Laura Andolina |
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| Rok vydání: | 2014 |
| Předmět: |
Congenital Anemia
Mutation Mitochondrial DNA Pathology medicine.medical_specialty Anemia Immunology GATA1 Cell Biology Hematology Biology medicine.disease medicine.disease_cause Biochemistry hemic and lymphatic diseases Pearson marrow-pancreas syndrome medicine Differential diagnosis Diamond–Blackfan anemia |
| Zdroj: | Blood. 124:437-440 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood-2014-01-545830 |
| Popis: | Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia. |
| Databáze: | OpenAIRE |
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