Neonatal diabetes mellitus (NDM) is a rare disease (ORPHA:224) with an estimated incidence ranging from 1:20,000 to 350,000 live births, with the highest incidence in those countries with high rate of consanguinity. It is usually defined as “a diabetes duration of at least 2 weeks that occurs within the first 6 months of life”. It can be classified as transient (TNDM) or permanent (PNDM), and in a minority of cases it is associated to other syndromes (syndromic diabetes). A genetic aetiology can be recognized in most of the patients. Up-to-date, more than 30 genes responsible for NDM have been identified [1]. The genetic diagnosis plays a key-role to guide clinicians to choose the appropriate treatment as more than 90% of patients with NDM due to KCNJ11 and ABCC8 mutations can be successfully treated with sulfonylureas, while patients with NDM due to defects of 6q24 seem responsive to different antidiabetic agents [2]. Usually, all the other patients carrying mutations of other genes require a different treatment, with insulin or even, rarely, bone-marrow transplantation. According to the ISPAD guidelines, NDM is a circumstance in which insulin pumps may be beneficial [3]. In this paper, we describe an infant diagnosed with TNDM due to defect in the 6q24 region. He was treated with intravenous insulin infusion and then with an advanced hybrid closed loop system (AHCL), which allowed to discharge the patient and to prevent hypoglycaemic events even during the insulin suspension due to remission phase.
Safety and effectiveness of Medtronic MiniMed™ 780G in a neonate with transient neonatal diabetes mellitus: a case report
Delvecchio, Maurizio;Panza, Raffaella
;Schettini, Federico;Laforgia, Nicola
2024-01-01
Abstract
Neonatal diabetes mellitus (NDM) is a rare disease (ORPHA:224) with an estimated incidence ranging from 1:20,000 to 350,000 live births, with the highest incidence in those countries with high rate of consanguinity. It is usually defined as “a diabetes duration of at least 2 weeks that occurs within the first 6 months of life”. It can be classified as transient (TNDM) or permanent (PNDM), and in a minority of cases it is associated to other syndromes (syndromic diabetes). A genetic aetiology can be recognized in most of the patients. Up-to-date, more than 30 genes responsible for NDM have been identified [1]. The genetic diagnosis plays a key-role to guide clinicians to choose the appropriate treatment as more than 90% of patients with NDM due to KCNJ11 and ABCC8 mutations can be successfully treated with sulfonylureas, while patients with NDM due to defects of 6q24 seem responsive to different antidiabetic agents [2]. Usually, all the other patients carrying mutations of other genes require a different treatment, with insulin or even, rarely, bone-marrow transplantation. According to the ISPAD guidelines, NDM is a circumstance in which insulin pumps may be beneficial [3]. In this paper, we describe an infant diagnosed with TNDM due to defect in the 6q24 region. He was treated with intravenous insulin infusion and then with an advanced hybrid closed loop system (AHCL), which allowed to discharge the patient and to prevent hypoglycaemic events even during the insulin suspension due to remission phase.| File | Dimensione | Formato | |
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