Clinical characterization and follow-up analysis of twenty-one cases with neonatal diabetes mellitus

Objective: We summarize the clinical and follow-up data of twenty-one children with neonatal diabetes mellitus (NDM) to strengthen the understanding of NDM and provide reference for clinical diagnosis and follow-up. Methods The clinical characteristics, growth and development of twenty-one children with NDM who were diagnosed and treated in the Children's Hospital of Nanjing Medical University from January 2011 to August 2018 were retrospectively analyzed. Results The median age of diagnosis was 97 days and the follow-up period was 0.96 to 47.6 months years. At the time of new diagnosis, 7 cases were complicated with diabetic ketoacidosis and 3 cases with diabetic ketoacidosis. Seven patients had diabetic ketoacidosis (DKA) and three patients had diabetic ketosis (DK). Three cases were unclassified because of short follow-up time. Two patients are Transient neonatal diabetes mellitus (TNDM). Sixteen cases are Permanent neonatal diabetes mellitus (PNDM). Thirteen patients underwent drug-experiential treatment with a success rate of 53.8%. Twelve patients had growth and development disorders or language and motor retardation. Eleven cases were improved by genetic testing and the positive rate of gene mutation was 81.8%. There was no significant difference in treatment regimen, complications, genotype and other factors among different growth and development conditions (P > 0.05). Fisher exact probability analysis of growth and development in different treatment schemes showed that there was no significant difference (P>0.05). Conclusions Patients with KCNJ11 and ABCC8 gene mutations often have developmental disorders and sulfonylurea drugs are effective, which can improve the outcome of developmental disorders. There was no correlation between age, complications, genotype and the outcome of growth. When conditions permit, we should perfect gene detection as soon as possible to identify the type of mutation, guiding treatment and judging prognosis.

Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea:Two case reports and review of literature

BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of life.Patients often enter remission within several months,although relapse can occur later in life.Mutations in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal diabetes.This study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea therapy.CASE SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September 2023.The patients were tested for mutations using targeted next-generation sequencing.Patients with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported before.Both children had an onset of post-infectious diabetic ketoacidosis,which is worth noting.At a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse reactions.CONCLUSION Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.

Epigenetics in neonatal diseases

Objective To review the role of epigenetic regulation in neonatal diseases and better understand Barker＇s ＂fetal origins of adult disease hypothesis＂.Data sources The data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.Study selection Articles associated with epigenetics and neonatal diseases were selected.Results There is a wealth of epidemiological evidence that lower birth weight is strongly correlated with an increased risk of adult diseases, such as type 2 diabetes mellitus, hypertension, and cardiovascular disease. This phenomenon of fetal origins of adult disease is strongly associated with fetal insults to epigenetic modifications of genes. A potential role of epigenetic modifications in congenital disorders, transient neonatal diabetes mellitus （TNDM）, intrauterine growth retardation （IUGR）, and persistent pulmonary hypertension of the newborn （PPHN） have been studied.Conclusions Acknowledgment of the role of these epigenetic modifications in neonatal diseases would be conducive to better understanding the pathogenesis of these diseases, and provide new insight for improved treatment and prevention of later adult diseases.