Pune: Doctors of the city’s BJ Govt Medical College and Sassoon General Hospital have identified a link between a novel genetic mutation and rare disorder transient neonatal diabetes mellitus. The case involved an extremely premature infant, born at 27 weeks of gestation, weighing 720g, who was admitted to the Sassoon Hospital’s Neonatal Intensive Care Unit (NICU). “Though the baby boy was premature, he recovered completely and started breastfeeding. However, despite that, he was not putting on weight and was frequently urinating, which were concerning symptoms,” said Dr Pragathi Kamath, associate professor at BJMC and contributing author of the study.“We presumed this was a Type-1 diabetes case. However, we decided to do a gene test. During the early neonatal period, the baby developed persistent hyperglycaemia due to insulin deficiency — a condition known as neonatal diabetes mellitus, an extremely rare disorder. Despite requiring insulin therapy initially, the baby’s diabetes resolved spontaneously, confirming the diagnosis of transient neonatal diabetes mellitus,” Dr Kamath added.The study was published in Cureus, a peer-reviewed journal. “Advanced genetic testing revealed a previously unreported homozygous mutation in the MS4A6A gene — which has never before been associated with neonatal diabetes mellitus anywhere in the world. Further advanced genetic analysis confirmed the authenticity of the finding, strengthening its scientific significance,” said Dr Aarti Kinikar, head of the paediatric department at BJMC, who also participated in the study.“This landmark achievement placed BJ Medical College on the global medical research map. This historic discovery, made in an extremely premature newborn, is being recognised internationally as the first case worldwide linking this specific genetic mutation to transient neonatal diabetes mellitus,” Dr Kinikar said.Dr Kamath added: “This proves that doctors must also investigate the genes in a baby with neonatal diabetes to know the true cause. These diagnoses prevent unnecessary lifelong insulin therapy.”Acknowledging the major scientific contribution, Dr Eknath Pawar, dean of Sassoon Hospital, formally congratulated Kinikar along with her paediatrics and neonatology team. Dr Pawar noted that such discoveries highlighted that govt medical colleges can produce research of global relevance and scientific excellence.The study’s contributing authors included Sohrab Shakeel, Sandeep Kadam, Sameer Pawar, Dhyey Pandya, Kanchan Sakharkar, Abhinav Kachare, Sangeeta Chivale, Suvidha Sardar, Abhilash Yamavaram, Poonam Mane, Prakash Gambhir, Parag M Tamhankar, and Salil Vaniawala.GRAPHICSHL: WHAT IS THE CASE?Neonatal diabetes mellitus (NDM) is a rare metabolic disorder characterised by hyperglycemia within the first six months of lifeAccording to various medical literature, neonatal diabetes is a very rare genetic disorder, with an estimated incidence of one in 90,000 to 2,60,000 live birthsWhile commonly monogenic, the MS4A6A gene, known for immune modulation and calcium signalling, has not previously been linked to NDMThe boy was born to asymptomatic, non-consanguineous parents, though a significant polygenic risk for diabetes was noted in the family historyRECOMMENDATIONS FOR THE BOYDoctors have warned that there’s a high lifetime risk of relapse, particularly during metabolic stressParents have been educated on “sick day” managementLong-term surveillance is mandatory, including annual HbA1c and oral glucose tolerance testsThe parents face a “dual-risk” profile — their carrier status combined with a polygenic family history warrants proactive metabolic surveillance
