Cargando…

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA

We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was...

Descripción completa

Detalles Bibliográficos
Autores principales: Galati, Alessio, Muciaccia, Rosalia, Marucci, Antonella, Di Paola, Rosa, Menzaghi, Claudia, Ortolani, Federica, Rutigliano, Alessandra, Rotondo, Arianna, Fischetto, Rita, Piccinno, Elvira, Delvecchio, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9517908/
https://www.ncbi.nlm.nih.gov/pubmed/36078750
http://dx.doi.org/10.3390/ijerph191711031
_version_ 1784799055760588800
author Galati, Alessio
Muciaccia, Rosalia
Marucci, Antonella
Di Paola, Rosa
Menzaghi, Claudia
Ortolani, Federica
Rutigliano, Alessandra
Rotondo, Arianna
Fischetto, Rita
Piccinno, Elvira
Delvecchio, Maurizio
author_facet Galati, Alessio
Muciaccia, Rosalia
Marucci, Antonella
Di Paola, Rosa
Menzaghi, Claudia
Ortolani, Federica
Rutigliano, Alessandra
Rotondo, Arianna
Fischetto, Rita
Piccinno, Elvira
Delvecchio, Maurizio
author_sort Galati, Alessio
collection PubMed
description We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was required. He was discharged with a hybrid closed-loop system for insulin infusion and prevention of hypoglycemia (Minimed Medtronic 670G). He underwent a next-generation sequencing analysis for monogenic diabetes genes, which showed that he was compound heterozygous for two mutations in the LRBA gene. In the following months, he developed arthritis of hands and feet, chronic diarrhea, and growth failure. He underwent bone marrow transplantation with remission of diarrhea and arthritis, but not of diabetes and growth failure. The blood glucose control has always been at target (last HbA1c 6%) without any severe hypoglycemia. LRBA gene mutations are a very rare cause of autoimmune diabetes. This report describes the clinical course in a very young patient. The hybrid closed-loop system was safe and efficient in the management of blood glucose. This report describes the clinical course of diabetes in a patient with a novel LRBA gene mutation.
format Online
Article
Text
id pubmed-9517908
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-95179082022-09-29 Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA Galati, Alessio Muciaccia, Rosalia Marucci, Antonella Di Paola, Rosa Menzaghi, Claudia Ortolani, Federica Rutigliano, Alessandra Rotondo, Arianna Fischetto, Rita Piccinno, Elvira Delvecchio, Maurizio Int J Environ Res Public Health Case Report We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was required. He was discharged with a hybrid closed-loop system for insulin infusion and prevention of hypoglycemia (Minimed Medtronic 670G). He underwent a next-generation sequencing analysis for monogenic diabetes genes, which showed that he was compound heterozygous for two mutations in the LRBA gene. In the following months, he developed arthritis of hands and feet, chronic diarrhea, and growth failure. He underwent bone marrow transplantation with remission of diarrhea and arthritis, but not of diabetes and growth failure. The blood glucose control has always been at target (last HbA1c 6%) without any severe hypoglycemia. LRBA gene mutations are a very rare cause of autoimmune diabetes. This report describes the clinical course in a very young patient. The hybrid closed-loop system was safe and efficient in the management of blood glucose. This report describes the clinical course of diabetes in a patient with a novel LRBA gene mutation. MDPI 2022-09-03 /pmc/articles/PMC9517908/ /pubmed/36078750 http://dx.doi.org/10.3390/ijerph191711031 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Galati, Alessio
Muciaccia, Rosalia
Marucci, Antonella
Di Paola, Rosa
Menzaghi, Claudia
Ortolani, Federica
Rutigliano, Alessandra
Rotondo, Arianna
Fischetto, Rita
Piccinno, Elvira
Delvecchio, Maurizio
Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title_full Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title_fullStr Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title_full_unstemmed Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title_short Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
title_sort early-onset diabetes in an infant with a novel frameshift mutation in lrba
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9517908/
https://www.ncbi.nlm.nih.gov/pubmed/36078750
http://dx.doi.org/10.3390/ijerph191711031
work_keys_str_mv AT galatialessio earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT muciacciarosalia earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT marucciantonella earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT dipaolarosa earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT menzaghiclaudia earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT ortolanifederica earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT rutiglianoalessandra earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT rotondoarianna earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT fischettorita earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT piccinnoelvira earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba
AT delvecchiomaurizio earlyonsetdiabetesinaninfantwithanovelframeshiftmutationinlrba