Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos / Hereditary xerocytosis. Presentation of two pediatric cases
Arch. argent. pediatr
; 117(6): 684-687, dic. 2019. tab
Article
in Es
| LILACS, BINACIS
| ID: biblio-1051382
Responsible library:
AR94.1
RESUMEN
La xerocitosis hereditaria es un desorden poco frecuente causado por defectos en la permeabilidad eritrocitaria, que se caracteriza por anemia hemolítica de gravedad variable y sobrecarga de hierro. El diagnóstico suele ser tardío y confundirse con otras anemias hemolíticas, lo que puede llevar a indicaciones de procedimientos, como la esplenectomía, contraindicados en estos pacientes. Se reportan las características clínicas, hematológicas y moleculares de dos pacientes pediátricos no relacionados con diagnóstico de xerocitosis hereditaria. Ambos presentaban eritrocitos deshidratados con alta concentración de hemoglobina corpuscular media, frotis no patognomónico, marcadores de hemólisis y una curva de fragilidad osmótica resistente. El diagnóstico se confirmó por la secuenciación del gen PIEZO.Se resalta la importancia de reconocer la causa de la anemia hemolítica para dar un enfoque terapéutico preciso y dar adecuado consejo genético
ABSTRACT
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Hydrops Fetalis
/
Anemia, Hemolytic, Congenital
/
Mutation
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Language:
Es
Journal:
Arch. argent. pediatr
Journal subject:
PEDIATRIA
Year:
2019
Type:
Article