RESUMEN
OBJECTIVE: Despite multiple treatment modalities, protein-losing enteropathy remains a serious complication to Fontan-type operations. Observations suggest inflammation to be involved in the pathogenesis of this condition, and immunomodulating treatment with high-dose intravenous immunoglobulin may modify the condition positively. PATIENTS: Four patients with protein-losing enteropathy occurring after the total cavopulmonary connection, presenting with edema, hypoalbuminemia, and hypogammaglobulinemia, received intravenous immunoglobulin replacement therapy. INTERVENTIONS: Standard replacement dose (1 g/kg) was used with intervals between infusions adjusted according to albumin and gamma globulin levels. Treatment periods ranged from 1 year to 5.3 years. RESULTS: Intravenous immunoglobulin treatment was associated with significant increase in plasma albumin and to some extent in immunoglobulin G levels, as well as resolution of edema and the children started to thrive normally. During treatment, no serious infections or serious side effects were seen. Additional follow-up intervals ranged from 2 years to 2.8 years, during which only one episode of clinical relapse was registered and treated. CONCLUSIONS: We find the increase in albumin level and the resolution of protein-losing enteropathy symptoms after treatment with intravenous immunoglobulin of particular interest considering this serious complication to Fontan-type operations.
Asunto(s)
Procedimiento de Fontan/efectos adversos , Inmunoglobulinas Intravenosas/uso terapéutico , Enteropatías Perdedoras de Proteínas/tratamiento farmacológico , Agammaglobulinemia/sangre , Agammaglobulinemia/tratamiento farmacológico , Agammaglobulinemia/etiología , Biomarcadores/sangre , Preescolar , Dinamarca , Edema/tratamiento farmacológico , Edema/etiología , Femenino , Humanos , Hipoalbuminemia/tratamiento farmacológico , Hipoalbuminemia/etiología , Inmunoglobulina G/sangre , Inmunoglobulinas Intravenosas/administración & dosificación , Inmunoglobulinas Intravenosas/efectos adversos , Lactante , Infusiones Intravenosas , Masculino , Enteropatías Perdedoras de Proteínas/sangre , Enteropatías Perdedoras de Proteínas/etiología , Albúmina Sérica/metabolismo , Factores de Tiempo , Resultado del TratamientoRESUMEN
22q11 deletion syndrome (formerly named CATCH22, DiGeorge, Velo-Cardio-Facial, Caylor, Kinouchi and Shprintzen syndrome) occurs in approximately 1/2000 to 4000 children. The genetic lesion is remarkably uniform, occurring mainly as 3 or 1.5 MB deletions in the 22q11.2 region. However, the clinical manifestations are variable and manifestation in several organ systems often occur. In this review we describe the various manifestations of the syndrome. Finally, we suggest strategies for diagnosing, evaluating and organizing the treatment for Danish patients with this syndrome.
