Archivos argentinos de pediatria · 2019
[Hereditary xerocytosis. Presentation of two pediatric cases].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Eandi Eberle Silvia, Pepe Carolina, Aguirre Fernando, Milanesio Berenice, Fernández Diego, Ávalos Gómez Vanesa, Kinen Analía, Feliu Torres Aurora
Аннотация
Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.