Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman–Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non‐identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full‐length inverted Alu element into the 3′‐untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient. Having correlated our findings with current knowledge of SPINK1's role in exocrine pancreas pathophysiology, we propose that complete and partial functional losses of the SPINK1 gene are associated with quite distinct phenotypes, the former causing a new pediatric disease entity of severe infantile isolated EPI.
Summary Background General anesthesia dramatically decreases the activity of the autonomic nervous system. Most of the hypnotic agents used to induce anesthesia inhibit sympathetic cardiovascular regulation and baroreflex control in a dose‐dependent manner, lowering cardiac adaptability during the operation. The consequence of this effect in children during and after surgery has never been studied to date. Aim The aim of this study was to follow the variations in autonomic cardiac indices in children younger than 8 years old after general anesthesia (6‐24 hours) in programmed surgery. Method A prospective descriptive monocentric study of 44 children under 8 years old who underwent scheduled surgery at our hospital center (Saint‐Étienne University Hospital, France) was performed between June 1, 2016 and November 1, 2016. Heart rate variability was monitored for 24 hours using Holter‐ECG devices and the resulting data were interpreted using linear and nonlinear analyses. Results Compared to baseline thresholds before surgery, all heart rate variability indices decreased dramatically during general anesthesia. After awakening, a slight reduction in sympathetic activity persisted 6 hours after surgery, but all measurements of sympathetic and parasympathetic activity had returned to baseline thresholds 12 hours after the operation. Twenty‐four hours after surgery, some parameters had increased above the corresponding baseline levels. Conclusion Autonomic nervous function normalizes rapidly (within 12 hours) in prepubertal children. This study indicates that general anesthesia does not seem to increase the long‐term risk of autonomic dysfunction in these patients.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.