RESUMEN
OBJECTIVES: To identify infants with hyperinsulinism caused by defects of the beta-cell adenosine triphosphate-dependent potassium channel complex and to distinguish focal and diffuse forms of hyperinsulinism caused by these mutations. STUDY DESIGN: The acute insulin response to intravenous calcium stimulation (CaAIR) was determined in 9 patients <20 years with diffuse hyperinsulinism caused by defective beta-cell sulfonylurea receptor (SUR1(-/-)), 3 patients with focal congenital hyperinsulinism (6 weeks to 18 months), a 10-year-old with insulinoma, 5 with hyperinsulinism/hyperammonemia syndrome caused by defective glutamate dehydrogenase (6 months to 28 years), 4 SUR1(+/-) heterozygotes with no symptoms, and 9 normal adults. Three infants with congenital focal disease, 1 with diffuse hyperinsulinism, and the child with insulinoma underwent selective pancreatic intra-arterial calcium stimulation with hepatic venous sampling. RESULTS: Children with diffuse SUR1(-/-) disease and infants with congenital focal hyperinsulinism responded to CaAIR, whereas the normal control group, patients with hyperinsulinism/hyperammonemia syndrome, and SUR1(+/-) carriers did not. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling revealed selective, significant step-ups in insulin secretion that correlated anatomically with the location of solitary lesions confirmed surgically in 2 of 3 infants with congenital focal disease and in the child with insulinoma. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling demonstrated markedly elevated baseline insulin levels throughout the pancreas of the infant with diffuse hyperinsulinism. CONCLUSIONS: The intravenous CaAIR is a safe and simple test for identifying infants with diffuse SUR1(-/-) hyperinsulinism or with focal congenital hyperinsulinism. Preoperative selective arterial calcium stimulation of the pancreas with hepatic venous sampling can localize focal lesions causing hyperinsulinism in children. The combination of these calcium stimulation tests may help distinguish focal lesions suitable for cure by local surgical resection.
Asunto(s)
Transportadoras de Casetes de Unión a ATP , Calcio , Hiperinsulinismo/congénito , Hiperinsulinismo/diagnóstico , Canales de Potasio de Rectificación Interna , Canales de Potasio , Receptores de Droga , Compuestos de Sulfonilurea/metabolismo , Adolescente , Adulto , Calcio/sangre , Estudios de Casos y Controles , Niño , Preescolar , Diagnóstico Diferencial , Técnicas de Diagnóstico Endocrino , Femenino , Humanos , Hiperinsulinismo/sangre , Lactante , Inyecciones Intravenosas , Masculino , Canales de Potasio/genética , Receptores de Droga/genética , Receptores de SulfonilureasAsunto(s)
Anfotericina B/uso terapéutico , Candidiasis/tratamiento farmacológico , Candidiasis/orina , Niño , Preescolar , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
Severe bronchial hemorrhage in 13 patients with cystic fibrosis was treated by catheter embolization of bronchial arteries. Indications were either excessive bleeding persisting for several days, or bleeding serious enough to interfere with pulmonary drainage and recurring over weeks or months. In follow-up ranging from one to 30 months, cessation of major bleeding was achieved in 12 of 13 patients (93%), although 5 of 13 patients (40%) did have recurrence of minor hemoptysis. No neurologic or other major complications were encountered. However, there are potential risks and this approach at present should be limited to patients with life-threatening bleeding and carried out only by experienced angiographers.
Asunto(s)
Arterias Bronquiales , Fibrosis Quística/complicaciones , Embolización Terapéutica , Hemoptisis/terapia , Adolescente , Adulto , Angiografía , Enfermedades Bronquiales/diagnóstico por imagen , Enfermedades Bronquiales/terapia , Broncoscopía , Niño , Femenino , Estudios de Seguimiento , Hemoptisis/etiología , Humanos , Masculino , RecurrenciaRESUMEN
Portal hypertension in Gaucher disease is unusual; the seventh known patient with this complication is reported. Prior to portacaval shunting in this child, a localized obstruction of the inferior vena cava at the subdiaphragmatic level was demonstrated by caval manometry and inferior vena cavography. At autopsy, centrilobular hepatic fibrosis seemed to be responsible for the portal hypertension. Nodular enlargement of the right and caudate lobes of the liver was the cause of the caval obstruction; elevated caval resistance may have contributed to the portal hypertension and possibly was responsible for failure of a portacaval anastomosis. The value of preoperative inferior vena cavography in addition to arterial portography in children with portal hypertension is stressed.