Long term follow up of patients with congenital…长期跟踪先天性患者.pdfVIP

European Journal of Endocrinology (2003) 149 43–51 ISSN 0804-4643 CLINICAL STUDY Long-term follow-up of 114 patients with congenital hyperinsulinism Thomas Meissner, Udo Wendel, Peter Burgard1, Silvia Schaetzle1 and Ertan Mayatepek Clinic of General Pediatrics, University Children’s Hospital, Du¨sseldorf, Germany and 1 Division of Metabolic and Endocrine Diseases, University Children’s Hospital, Heidelberg, Germany (Correspondence should be addressed to E Mayatepek, Clinic of General Pediatrics, University Children’s Hospital, Moorenstr. 5, D-40225 Du¨sseldorf, Germany; Email: mayatepek@uni-duesseldorf.de) Abstract Background: The term congenital hyperinsulinism (CHI) comprises a group of different genetic dis- orders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. Objective: To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. Patients: The data from 114 patients from different hospitals were obtained by a detailed question- naire. Patients presented neonatally (65%), during infancy (28%) or during childhood (7%). Results: In 20 of 74 (27%) patients with neonatal onset birth weight was greatly increased (group with standard deviation scores (SDS) .2.0) with a mean SDS of 3.2. Twenty-nine percent of neo- natal-onset vs 69% of infancy/childhood-onset patients responded to diazoxide and diet or to a carbo- hydrate-