Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.
Alessio GalatiRosalia MuciacciaAntonella MarucciRosa Di PaolaClaudia MenzaghiFederica OrtolaniAlessandra RutiglianoArianna RotondoRita FischettoElvira PiccinnoMaurizio DelvecchioPublished in: International journal of environmental research and public health (2022)
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.
Keyphrases
- glycemic control
- blood glucose
- type diabetes
- early onset
- late onset
- cardiovascular disease
- weight loss
- bone marrow
- insulin resistance
- genome wide
- case report
- low dose
- emergency department
- multiple sclerosis
- gene expression
- metabolic syndrome
- blood pressure
- adipose tissue
- mesenchymal stem cells
- body mass index
- cell therapy
- drug induced
- wound healing