RESUMEN
OBJECTIVES: Deficiency in the catabolism of triglyceride-rich lipoproteins is the main cause of childhood-onset chylomicronaemia syndrome. Missense mutations in lipoprotein lipase (LPL) or in proteins influencing LPL activity or stability have been shown to be critical determinants of chylomicronaemia syndrome. The main objective of this study was to assess the primary deficiency in five cases of childhood-onset chylomicronaemia syndrome. SETTING: Lipid clinic at a university hospital, SUBJECTS: Subjects presenting with severe hypertriglyceridaemia and chylomicronaemia syndrome in which reduced LPL activity and mass were observed. INTERVENTIONS: Analysis of LPL and GPIHBP1 genes. RESULTS: Amongst the five patients, one novel homozygous missense mutation (p.C68Y) in exon 3 of GPIHBP1 was identified. The other four patients were homozygous for the common LPL mutation p.G188E. CONCLUSION: These findings provide further evidence that GPIHBP1 is involved in the catabolism of triglyceride-rich lipoproteins and plays a role in childhood-onset chylomicronaemia.
Asunto(s)
Proteínas Portadoras/genética , Quilomicrones/sangre , Hipertrigliceridemia/sangre , Lipoproteína Lipasa/sangre , Mutación Missense , Edad de Inicio , Niño , Quilomicrones/genética , Exones , Femenino , Homocigoto , Humanos , Lipoproteína Lipasa/genética , Lipoproteína Lipasa/metabolismo , Masculino , Receptores de Lipoproteína , SíndromeRESUMEN
Castleman's disease is a rare entity which is caracterized by its histological features: hyperplasia of lymph nodes and capillary proliferation. Two histological patterns has been described: hyaline vascular type and plasma cell type. From a clinical viewpoint has been identified two different clinical course: a localized type (ECL) usually of benign clinical course and a multicentric type (ECM) of worst prognosis. We present a case of Castleman"s disease localized in the neck region in which the excision was both diagnostic and therapeutic. The variety histological was hyaline-vascular type.
Asunto(s)
Enfermedad de Castleman , Adulto , Enfermedad de Castleman/patología , Enfermedad de Castleman/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Cuello , Resultado del TratamientoRESUMEN
La enfermedad de Castleman (EC) es una entidad rara definida por sus hallazgos anatomopatológicos: hiperplasia de las células dendríticas de los ganglios linfáticos y marcada proliferación capilar. Se han descrito dos tipos histológicos: la variedad hialinovascular y la plasmocelular. Desde el punto de vista clínico se han identificado dos cuadros bien diferenciados: la forma localizada (ECL), de curso clínico benigno, y la forma multicéntrica (ECM) de peor pronóstico. Presentamos un caso de EC localizada en la región cervical, en la que la resección quirúrgica de la adenopatía resultó ser diagnóstica y terapéutica. La variedad histológica fue del tipo hialinovascular (AU)
Castlemans disease is a rare entity which is caracterized by its histological features: hyperplasia of lymph nodes and capillary proliferation. Two histological patterns has been described: hyaline vascular type and plasma cell type. From a clinical viewpoint has been identified two different clinical course: a localized type (ECL) usually of benign clinical course and a multicentric type (ECM) of worst prognosis. We present a case of Castleman´s disease localized in the neck region in which the excision was both diagnostic and therapeutic. The variety histological was hyaline-vascular type (AU)