Childhood analysis

Clinical and genetic characteristics in the neonatal diabetes cohort similar to previous data

Previous data has reported a high incidence rate of neonatal diabetes mellitus (NDM), a rare form of monogenic diabetes, in Middle Eastern countries, at a rate of 1 in 21,000 – 29,000 live births.

As a result, researchers led by Revital Nimri, MD, The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, set out to describe the clinical features, molecular genetics, and long-term follow-up of 24 patients with NDM from a single pediatric endocrine center in Israel.

They observed that their cohort had clinical and genetic characteristics comparable to those of other populations, finding that patients with transient NDM (TNDM) were taller and heavier than those diagnosed with permanent NDM (PNDM), but the two cohorts showed rapid catch-up growth to normal growth. settings.

Methods

Nimri and colleagues noted that most cases of TNDM are explained by 1 of 4 mutations, including UDP 6, 6q24 and activating mutations in the ABCC8 and KCNJ11 genes.

Through an investigation of all registered cases of neonatal diabetes diagnosed and followed up between January 1975 and June 2020 in the Diabetes Clinic, a total of 24 cases were found that met the diagnostic criteria for NDM.

Information was gathered from medical records, including demographic data, neonatal anthropometric data, auxologic data, clinical presentation, and laboratory data at the time of diagnosis. In addition, information on treatment, complications of diabetes, DKA and severe hypoglycemic events, co-morbidities and DNA analysis data were collected.

In addition, the investigators collected data on weight, height and body mass index (BMI), expressed in SDS for the age group of 2 to 20 years.

Next, the assessment of newly-onset diabetes at the time of diagnosis was based on glucose levels, blood gases, electrolytes, pancreatic autoantibodies, and hemoglobin A1 or A1c (HbA1c) levels. Assessment of glycemic control included capillary HbA1c values ​​measured by an automated immunochemical technique. All patients were screened for mutations in ABCC8, KCNJ11 and INS.

Results

Of the cohort of 24 patients, 54.2% (n = 13) were male, with an SDS mean birth weight of -1.72 ± 1.62 and a mean gestational age of 38.2 ± 2.72 weeks.

The data then show that 9 patients had TNDM and 15 patients had PNDM, including 4 patients with syndromic features and 1 with IPEX syndrome.

In addition, the investigators observed that the median size of the SDS of the TNDM cohort was significantly larger than that of the PNDM cohort (-0.52, -0.67 to -0.09 versus -0.9, -1 , 42 to -0.3; P = .035).

In contrast, the mean SDS weight of the TNDM cohort was significantly higher compared to the PNDM cohort (0.22 ± 0.69 versus -0.89 ± 1.22, P = .02). In terms of mean BMI, no difference was found between the 2 cohorts, remaining in the normal or light weight categories.

Investigators observed that 87.5% (n = 21) of NDM patients had a specific genetic mutation, the common compost being ABCC8 in the TNDM subgroup. In the PNDM subgroup, all cases had a genetic etiology, the most common being a mutation in the KCNJ11 genes and insulin.

In disease management, data show that the switch to insulin was successful for 5 of 9 patients (56%) of eligible candidates for switch to off-label sulfonylurea treatment.

They observed severe hypoglycemia and diabetic ketoacidosis in 8% (n = 2) of patients and chronic complications of diabetes in 21% (n = 5) of patients with more than 10 years of NDM.

Take away food

“NDM patients exhibit rapid catch-up growth, normal childhood growth, and reaching normal adult height and weight,” the investigators wrote. “Larger-scale studies are needed to assess the growth patterns of NDM and its subcategories. “

The study, “Long-term clinical features, growth patterns and complications of diabetes in 24 patients with neonatal diabetes mellitus: a single center experience, ”Was published in Pediatric diabetes.


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