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

Alessio Galati, Rosalia Muciaccia, Antonella Marucci, Rosa Di Paola, Claudia Menzaghi, Federica Ortolani, Alessandra Rutigliano, Arianna Rotondo, Rita Fischetto, Elvira Piccinno and Maurizio Delvecchio ()
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Alessio Galati: Department of Pediatrics, Giovanni XXIII Children Hospital, Azienda Ospedaliero Universitaria Consorziale Policlinico, 70124 Bari, Italy
Rosalia Muciaccia: Department of Pediatrics, Giovanni XXIII Children Hospital, Azienda Ospedaliero Universitaria Consorziale Policlinico, 70124 Bari, Italy
Antonella Marucci: Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy
Rosa Di Paola: Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy
Claudia Menzaghi: Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy
Federica Ortolani: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy
Alessandra Rutigliano: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy
Arianna Rotondo: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy
Rita Fischetto: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy
Elvira Piccinno: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy
Maurizio Delvecchio: Metabolic Disease and Genetics Unit, Giovanni XXIII Children’s Hospital, AOU Policlinico di Bari, Piazza G. Cesare 11, 70126 Bari, Italy

IJERPH, 2022, vol. 19, issue 17, 1-7

Abstract: 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.

Keywords: early-onset diabetes; LRBA; primary immunodeficiency; hybrid closed-loop; bone marrow transplantation (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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