Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin

Autor: Timothy M. Bahr, Mari C. Knudsen, Michell Lozano-Chinga, Archana M. Agarwal, Jessica A. Meznarich, Robin K. Ohls, Robert D. Christensen
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Biomedicine Hub, Vol 5, Iss 3, Pp 1-8 (2020)
Druh dokumentu: article
ISSN: 2296-6870
DOI: 10.1159/000511388
Popis: Infantile pyknocytosis is a rare, self-limited, hemolytic condition of unknown pathogenesis. It is diagnosed when a neonate with Coombs-negative hemolytic anemia has abundant pyknocytes and a characteristic clinical course after other hemolytic disorders has been excluded. Previous reports suggest that transfusions might be avoidable in this condition by administering recombinant erythropoietin. We cared for a patient with this disorder where we employed novel diagnostics and therapeutics. Despite these, and a good outcome free of transfusions, we continue to consider the condition to be idiopathic.
Databáze: Directory of Open Access Journals