Assuntos
Transfusão de Sangue , Educação Continuada em Enfermagem , Conhecimento , Enfermeiras e Enfermeiros , Adulto , Feminino , Humanos , MasculinoRESUMO
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Mutação , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Transportadores de Cassetes de Ligação de ATP/deficiência , Feminino , Heterozigoto , Humanos , Recém-NascidoRESUMO
A retrospective chart review of 18 nonvaccinated newborns and infants admitted to 6 intensive care units in the north of Portugal between 2007 and 2012 revealed a high rate of admissions in 2012 along with significant rates of severe pulmonary hypertension and mortality. Hyperleukocytosis was significantly associated with a more severe clinical picture and mortality.
Assuntos
Coqueluche/epidemiologia , Tosse , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Contagem de Leucócitos , Portugal/epidemiologia , Estudos Retrospectivos , Coqueluche/sangueRESUMO
We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotypephenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy (AU)
Se presenta un caso neonatal de pseudohipoaldosteronismo sistémico tipo 1 causado por una nueva mutación en el gen SCNN1A (homocigotos C.1052 2 dupT en el intrón 3) en el que el se evidenció hiperpotasemia potencialmente mortal, hiponatremia y acidosis metabólica. Continúa sin saberse con certeza si hay correlación genotipo-fenotipo, debido a la rareza de la enfermedad. Esta mutación, que no ha sido previamente descrita, se asoció con un fenotipo muy grave por lo que requirió un abordaje terapéutico agresivo (AU)
Assuntos
Humanos , Masculino , Recém-Nascido , Pseudo-Hipoaldosteronismo/genética , Mutação/genética , Hiperpotassemia/etiologia , Hiponatremia/etiologia , Cetose/etiologia , FenótipoRESUMO
We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
