Analysis of the reg1alpha and reg1beta gene transcripts in patients with fibrocalculous pancreatopathy.

Fibrocalculous pancreatopathy is a form of diabetes, associated with tropical chronic calcific pancreatitis, in which islet beta-cell loss and pancreatic stone formation are found. It is likely to be a multifactorial disease with both genetic and environmental components. Regenerating (reg) gene encodes protein that has been involved in pancreatic lithogenesis and the regeneration of islet cells and therefore the abnormality of reg genes could be associated with fibrocalculous pancreatopathy. In this study, regla and reg1beta mRNAs were isolated from peripheral blood lymphocytes obtained from 16 patients with fibrocalculous pancreatopathy, 42 patients with type 1 diabetes, 37 patients with type 2 diabetes, and 22 normal controls. mRNAs were amplified by reverse-transcription polymerase chain reaction (RT-PCR) and analysed by a single strand conformation polymorphism (SSCP) technique. The reg1alpha and reg1beta mRNAs were isolated, indicating the ectopic expression of these genes in peripheral blood lymphocytes; however, variation among mobility patterns was not observed in the SSCP analysis of the RT-PCR products. The results indicated that there was no abnormality of the regla and reg1beta mRNAs obtained from the study groups.

Nesidioblastosis pancreática: reporte de un caso en paciente adulto / Pancreatic nesidioblastosis: report of a case in adult patient

La nesidioblastosis es el nombre que ha sido usado para describir el hiperinsulinismo congénito (HC). Es la causa más común de hipoglicemias en neonatos. Puede provocar convulsiones, daño cerebral, inclusive hasta la muerte. El hiperinsulinismo congénito es un problema conocido desde hace 45 años, pero no es sino hasta 1976 que el Dr. Charles A Stanley y el Dr. Lester Baker en el Hospital de Niños de Filadelfia identificaron el hiperinsulinismo congénito como la causa más común de hipoglicemias en niños. Reportaron entre 1965 y 1975 en niños menores de un año una prevalencia de 55 por ciento de HC en los casos de hipoglicemias. Han sido poco los casos reportados en adultos. Entre la patogenia se menciona un defecto en el receptor de sulfonilureas, que ocurre como una mutación en el ADN. Focos aislados de desorden en las células â del páncreas. En 1998 se describió un defecto genético que aumenta la actividad de la glutamato deshidrogenasa, lo que provoca un hiperinsulinismo e hiperamonemia. También se menciona un defecto autosómico dominante. El diagnóstico se hace comprobando la hipoglicemia, sin acidemia, cetonas bajas, ácidos grasos bajos y niveles elevados de insulina. Los métodos tradicionales para la detección de tumoraciones (Resonancia magnética, tomografía, ecografía, etc) son ineficaces en la mayoría de los casos. Las opciones para el tratamiento varían desde la utilización de diazóxido, un inhibidor de la secreción de insulina a través de la supresión de la acción de los receptores de sulfonilureas. El uso de octreocitido. Glucagon en algunos casos usado por vía endógena revierte los efectos de la hipoglicemia

Neonatal hypoglycemia with nesidoblastosis in sibs, an evidence of an autosomal recessive inheritance

Persistent severe hypoglycemia in the neonatal period is a rare condition, and hyperinsulinism is the most common cause. Its diagnosis is of great importance as it may be exceedingly difficult to control. Nesidioblastosis is a term used to describe the presence of numerous abnormal clusters of insulin secreting cells histopathologically, Its aetiology is unknown, that there may be a genetic component with an autosomal recessive inheritance pattern Is suggested by its familial occurance. We report its occurance in 3 sibs of a Jordanian family. The first is a baby girl FTND, birth weight 4.1 kg., died at the age of 6 days due to severe hypoglycemia, the second is baby boy delivered by cesarean section because of a large fetus, birth weight 5 kg., died at the age of 31 days with histological evidence of nesidioblastosis, the third is a baby girl delivered at 36/40, birth weight 3.7 kg., hypoglycemic investigated and treated by 95% pancreatectomy, well and alive. Our report gives another evidence of Its mode of Inheritance and confirms the importance of early recognition and efficient treatment In preventing irreversable brain damage which is likely to result in survivors with subsequent mental retardation