AI Article Synopsis

  • Diamond-Blackfan anemia (DBA) is a rare genetic disorder that causes bone marrow failure and can present in different ways among patients.
  • Recent advancements in genetic understanding have changed how DBA is diagnosed, with new insights into its various forms.
  • The case discussed highlights an unusual patient who experienced spontaneous remission and relapse, raising questions about atypical symptoms and diagnostic challenges in DBA.

Article Abstract

Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that is both genetically and clinically heterogeneous. The diagnosis of DBA has changed over time, with advancements in our understanding of the varied genetic etiologies and phenotypic manifestations of the disease. We present a rare case of a patient who never developed erythroid precursor hypoplasia, adding to the understanding of atypical manifestations of DBA. Our patient had spontaneous remission followed by subsequent relapse, both atypical and poorly understood processes in DBA. We highlight important considerations in diagnostically challenging cases and review major outstanding questions surrounding DBA.

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000002820DOI Listing

Publication Analysis

Top Keywords

diamond-blackfan anemia
8
rare case
8
dba
5
normal erythroid
4
erythroid precursors
4
precursors diamond-blackfan
4
anemia rare
4
case highlighting
4
highlighting challenges
4
challenges remain
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!