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Blood Coagul Fibrinolysis ; 20(6): 458-60, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19542880

RESUMO

Renal venous thrombosis (RVT) is a rare but a well recognized entity in children and neonates. The clinical signs of neonatal RVT include hypertension, enlarged kidney(s), hematuria, renal insufficiency, proteinuria, thrombocytopenia, or all. Persisting impairment of kidney function and hypertension are serious and common complications in patients with RVT. Risk factors for the development of RVT include maternal diabetes mellitus, pathologic states associated with thrombosis (e.g., shock, dehydration, perinatal asphyxia, polycythemia), and sepsis. Inherited prothrombotic abnormalities have been described in some reports of RVT. We report the case of a male newborn with left RVT and associated homozygosity for both factor V Leiden (G1691A) and methylenetetrahydrofolate reductase C677T mutations in addition to elevated serum lipoprotein (a). The patient was treated with heparin. We believe our case to be the first reported case in the English medical literature of such an association between neonatal RVT and homozygosity for both factor V Leiden and methylenetetrahydrofolate reductase. This case and other studies clearly demonstrate that neonatal RVT should be evaluated for thrombophilia conditions.


Assuntos
Resistência à Proteína C Ativada/complicações , Fator V/genética , Lipoproteína(a)/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Veias Renais , Trombofilia/congênito , Trombose Venosa/etiologia , Resistência à Proteína C Ativada/genética , Genótipo , Hematúria/congênito , Hematúria/etiologia , Heparina/uso terapêutico , Homozigoto , Humanos , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Mutação Puntual , Veias Renais/diagnóstico por imagem , Fatores de Risco , Trombofilia/complicações , Trombofilia/genética , Ultrassonografia , Trombose Venosa/diagnóstico por imagem
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