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...
Autores principales: | , , , , , , , , , , |
---|---|
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 |