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

Autor: Bahr TM; Division of Neonatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Knudsen MC; Pediatric Residency Program, University of Utah, Salt Lake City, Utah, USA., Lozano-Chinga M; Division of Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Agarwal AM; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Meznarich JA; Division of Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Ohls RK; Division of Neonatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Christensen RD; Division of Neonatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Division of Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Jazyk: angličtina
Zdroj: Biomedicine hub [Biomed Hub] 2020 Dec 11; Vol. 5 (3), pp. 227-234. Date of Electronic Publication: 2020 Dec 11 (Print Publication: 2020).
DOI: 10.1159/000511388
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to declare.
(Copyright © 2020 by S. Karger AG, Basel.)
Databáze: MEDLINE
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