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6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results

Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 ...

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Autores principales: Fudvoye, Julie, Farhat, Khaldoun, De Halleux, Virginie, Nicolescu, Corina Ramona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112232/
https://www.ncbi.nlm.nih.gov/pubmed/27909691
http://dx.doi.org/10.3389/fped.2016.00124
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author Fudvoye, Julie
Farhat, Khaldoun
De Halleux, Virginie
Nicolescu, Corina Ramona
author_facet Fudvoye, Julie
Farhat, Khaldoun
De Halleux, Virginie
Nicolescu, Corina Ramona
author_sort Fudvoye, Julie
collection PubMed
description Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates.
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spelling pubmed-51122322016-12-01 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results Fudvoye, Julie Farhat, Khaldoun De Halleux, Virginie Nicolescu, Corina Ramona Front Pediatr Pediatrics Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates. Frontiers Media S.A. 2016-11-17 /pmc/articles/PMC5112232/ /pubmed/27909691 http://dx.doi.org/10.3389/fped.2016.00124 Text en Copyright © 2016 Fudvoye, Farhat, De Halleux and Nicolescu. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Fudvoye, Julie
Farhat, Khaldoun
De Halleux, Virginie
Nicolescu, Corina Ramona
6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title_full 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title_fullStr 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title_full_unstemmed 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title_short 6q24 Transient Neonatal Diabetes – How to Manage while Waiting for Genetic Results
title_sort 6q24 transient neonatal diabetes – how to manage while waiting for genetic results
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112232/
https://www.ncbi.nlm.nih.gov/pubmed/27909691
http://dx.doi.org/10.3389/fped.2016.00124
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