RESUMO
BACKGROUND: Congenital hyperinsulinism (CHI) is characterized by profound hypoglycaemia caused by inappropriate insulin secretion. CHI is a heterogeneous disorder with at least 2 histologic lesions and several implicated genes. If CHI is caused by a focal lesion, elective surgery is the only treatment because it leads to complete recovery without diabetes; on the contrary, diffuse CHI can only be cured by near-total pancreatectomy, and medical treatment, if efficient, is preferable. It is therefore mandatory to distinguish the 2 forms of CHI, and the surgeon has to fullfill his role in the multidisciplinary team that deals with CHI. METHODS: A total of 134 patients with CHI were investigated both radiologically and with molecular biology. Pathology was the only proof of focal or diffuse lesions, and the pancreatic tissue could be studied by electrophysiology (Katp and Ca channels) and gene study. RESULTS: In 59 infants with CHI, a focal lesion was suspected by radiology and proved by extemporaneous pathology; partial pancreatectomy (33 tail +/- body, 19 head, 5 isthmus resections) was performed, and molecular biology and histochemistry confirmed the genetic lesion specific to the focal disease; 75 near-total pancreatectomies were necessary in diffuse disease to prevent brain damage. CONCLUSIONS: CHI is a severe brain-threatening disease. Surgery is indicated in all focal diseases, providing they are diagnosed preoperatively. In diffuse disease with resistance to medical treatment, near-total pancreatectomy is a last resort option that hopefully will be improved in the future with culture of beta cells and genetic modification of the beta cell disease before autograft.
Assuntos
Hiperinsulinismo Congênito/cirurgia , Di-Hidroxifenilalanina/análogos & derivados , Pancreatectomia/métodos , Transportadores de Cassetes de Ligação de ATP/genética , Canais de Cálcio/fisiologia , Cromossomos Humanos Par 11 , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/patologia , Diagnóstico Diferencial , Genes Recessivos , Humanos , Hiperplasia , Lactente , Recém-Nascido , Ilhotas Pancreáticas/patologia , Mutação , Canais de Potássio/genética , Canais de Potássio Corretores do Fluxo de Internalização/genética , Canais de Potássio Corretores do Fluxo de Internalização/fisiologia , Compostos Radiofarmacêuticos , Receptores de Droga/genética , Receptores de Sulfonilureias , Tomografia Computadorizada de EmissãoRESUMO
BACKGROUND/PURPOSE: Permanent hyperinsulinemic hypoglycaemia in infancy (PHHI)I is a severe disease that leads to brain damage. Since 1989, pathologists have identified 2 different forms of the disease: a diffuse form (DiPHHI) and a focal form (FoPHHI). The purpose of this study was to adapt surgical techniques in case of FoPHHI to cure these infants without risk of diabetes. METHODS: All patients with PHHI underwent pancreatic venous sampling (PVS) and elective partial pancreatectomy (EPP). Molecular biology and immunohistochemistry were used to ascertain that FoPHHI was a different disease from DiPHHI. RESULTS: 45 EPPs were performed, guided by PVS and peroperative pathology. The lesions were 17 in the head, 4 in the isthmus, 6 in the body, 15 in the tail of the pancreas. Age at surgery ranged from 25 days to 4 years. Two patients already had been operated on elsewhere, and the focal lesion could be found at second operation. All 45 patients except one, were cured with euglycemia at both fasting and hyperglycaemic tests. Molecular biology has shown a specific anomaly in FoPHHI, which never has been encountered in DiPHHI. CONCLUSIONS: PHHI is not a homogeneous disease. In one third of cases, only a small amount of endocrine pancreas is abnormal, and conservative surgery is mandatory. The pre- and perioperative conditions to point out the focal pancreatic lesion are described.
