OBJECTIVE: To analyze glycemic profile in children with congenital central hypoventilation syndrome, which is characterized by autonomic nervous system dysfunction. STUDY DESIGN: We carried out a university hospital-based observational study. Participants included 14 patients assessed from 2007 to 2009 with a median age of 7.6 (25th-75th percentiles, 1.5-9.6) years at the time of the study. Glucose metabolism was assessed by calculating 24-hour plasma glucose (before and after meals) and fasting insulin concentrations and carrying out an oral glucose tolerance test (OGTT). The main outcome measure was the proportion of patients with abnormal glucose concentrations. RESULTS: Abnormal plasma glucose concentrations were found in 6 (43%) of the 14 patients with high fasting (n = 1) or postprandial (n = 5) hyperglycemia. OGTT was performed in 8 patients, of whom 3 (38%) had impaired glucose tolerance. Indices of insulin resistance and secretion were normal. No difference in clinical aspects relating to the presence of affected organs and/or systems related to central nervous system dysfunction, age, or auxology findings was found between patients with normal (43%) and abnormal (57%) glucose homeostasis over a 24-hour glycemia cycle or OGTT. CONCLUSION: This study provides new information about glucose homeostasis in congenital central hypoventilation syndrome, revealing a high incidence of hyperglycemia and expanding the spectrum of the disease. It highlights the link between autonomic nervous system dysfunction and glycemic dysregulation. Regular, long-term monitoring of glucose metabolism is recommended in these patients.
OBJECTIVE: To analyze glycemic profile in children with congenital central hypoventilation syndrome, which is characterized by autonomic nervous system dysfunction. STUDY DESIGN: We carried out a university hospital-based observational study. Participants included 14 patients assessed from 2007 to 2009 with a median age of 7.6 (25th-75th percentiles, 1.5-9.6) years at the time of the study. Glucose metabolism was assessed by calculating 24-hour plasma glucose (before and after meals) and fasting insulin concentrations and carrying out an oral glucose tolerance test (OGTT). The main outcome measure was the proportion of patients with abnormal glucose concentrations. RESULTS: Abnormal plasma glucose concentrations were found in 6 (43%) of the 14 patients with high fasting (n = 1) or postprandial (n = 5) hyperglycemia. OGTT was performed in 8 patients, of whom 3 (38%) had impaired glucose tolerance. Indices of insulin resistance and secretion were normal. No difference in clinical aspects relating to the presence of affected organs and/or systems related to central nervous system dysfunction, age, or auxology findings was found between patients with normal (43%) and abnormal (57%) glucose homeostasis over a 24-hour glycemia cycle or OGTT. CONCLUSION: This study provides new information about glucose homeostasis in congenital central hypoventilation syndrome, revealing a high incidence of hyperglycemia and expanding the spectrum of the disease. It highlights the link between autonomic nervous system dysfunction and glycemic dysregulation. Regular, long-term monitoring of glucose metabolism is recommended in these patients.
Authors: Ha Trang; Martin Samuels; Isabella Ceccherini; Matthias Frerick; Maria Angeles Garcia-Teresa; Jochen Peters; Johannes Schoeber; Marek Migdal; Agneta Markstrom; Giancarlo Ottonello; Raffaele Piumelli; Maria Helena Estevao; Irena Senecic-Cala; Barbara Gnidovec-Strazisar; Andreas Pfleger; Raquel Porto-Abal; Miriam Katz-Salamon Journal: Orphanet J Rare Dis Date: 2020-09-21 Impact factor: 4.123