RESUMO
Atypical hemolytic uremic syndrome (HUS) associated with factor H deficiency (FHD) carries a poor prognosis. A 3-year-old girl with FHD-HUS reached end-stage renal disease at age 6 months after experiencing numerous relapses; she underwent a cadaveric renal transplant at age 46 months. One month after transplantation, she experienced an extensive non-hemorrhagic cerebral infarction. Later, hematologic and renal manifestations of HUS developed, followed by another massive cerebral infarction and death in spite of multiple plasma transfusions. A 14-month-old boy with FHD-HUS experienced numerous HUS episodes starting at the age of 2 weeks. Daily plasma transfusions during relapses brought about only a temporary state of remission. However, prophylactic twice-weekly plasma therapy has been successful in preventing relapses and preserving renal function. With this regimen, serum factor H was increased from 6 mg/dL to subnormal values of 12 to 25 mg/dL (normal >60 mg/dL). We conclude that FHD-HUS recurs because FHD is not corrected by renal transplantation. A hypertransfusion protocol may prevent FHD-HUS.
Assuntos
Fator H do Complemento/deficiência , Síndrome Hemolítico-Urêmica/sangue , Síndrome Hemolítico-Urêmica/genética , Transfusão de Sangue , Infarto Cerebral/etiologia , Pré-Escolar , Evolução Fatal , Feminino , Síndrome Hemolítico-Urêmica/complicações , Síndrome Hemolítico-Urêmica/patologia , Síndrome Hemolítico-Urêmica/terapia , Humanos , Lactente , Transplante de Fígado , Masculino , Plasma , PrognósticoRESUMO
Congenital dyserythropoietic anemia (CDA) is a rare group of inherited bone marrow disorders characterized by anemia with ineffective erythropoiesis. We report 3 siblings from a family known to have CDA type I who presented with persistent pulmonary hypertension of the newborn (PPHN). We suggest that the diagnosis of CDA type I should be considered in any neonate with PPHN and anemia.
Assuntos
Anemia Diseritropoética Congênita/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Anemia Diseritropoética Congênita/genética , Árabes , Consanguinidade , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Israel , Masculino , Linhagem , Síndrome da Persistência do Padrão de Circulação Fetal/genéticaRESUMO
Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. The disease is usually not diagnosed in the neonatal period. In a retrospective study of 31 patients we found that 17 were first seen in the neonatal age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for gestational age and two had syndactyly. Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.
Assuntos
Anemia Diseritropoética Congênita/diagnóstico , Anemia Diseritropoética Congênita/sangue , Anemia Diseritropoética Congênita/classificação , Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/patologia , Anemia Macrocítica/patologia , Anemia Neonatal/diagnóstico , Transfusão de Sangue , Doenças da Medula Óssea/sangue , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/patologia , Diagnóstico Diferencial , Índices de Eritrócitos , Eritrócitos/patologia , Células Precursoras Eritroides/patologia , Células Precursoras Eritroides/ultraestrutura , Seguimentos , Hematócrito , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Icterícia Neonatal/sangue , Icterícia Neonatal/patologia , Microscopia Eletrônica , Contagem de Reticulócitos , Estudos Retrospectivos , Sindactilia/patologiaRESUMO
We report four patients with pseudohypoaldosteronism, aged 5 months to 5 years. All patients had hypercalciuria and three had nephrocalcinosis. Two patients with nephrocalcinosis were treated with indomethacin. Polydipsia decreased and appetite and weight gain improved within 14 days of therapy. Hypercalciuria, polyuria, and creatinine clearance decreased 30% to 50% and urinary prostaglandin E2 levels decreased fourfold to eightfold.