Piropoiquilocitose hereditária no período neonatal - relato de caso
The Hereditary Pyropoikilocytosis is a rare and severe form of Elliptocytosis, characterized by an alteration in the skeleton of the red blood cell membrane. It is an autosomal dominant condition with variable penetration in elliptocytosis, which may be in homozygosity or double heterozygosity in Py...
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| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Liburua |
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Sociedade Brasileira de Pediatria,
2023-12-01T00:00:00Z.
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| Gaia: | The Hereditary Pyropoikilocytosis is a rare and severe form of Elliptocytosis, characterized by an alteration in the skeleton of the red blood cell membrane. It is an autosomal dominant condition with variable penetration in elliptocytosis, which may be in homozygosity or double heterozygosity in Pyropoikilocytosis, starting from the neonatal period, with clinical manifestations of persistent jaundice. We report here a case of a newborn with persistent jaundice, associated with anemia requiring blood transfusion. The clinical evolution and laboratory findings were conclusive for the diagnosis of Hereditary Pyropoikilocytosis. |
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| Alearen deskribapena: | 10.25060/residpediatr-2023.v13n4-721 2236-6814 |