Neonatal diabetes

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Neonatal Diabetes Mellitus (NDM)

Neonatal Diabetes Mellitus (NDM) is a rare form of diabetes that appears in infants within the first six months of life. It is characterized by the body's insufficient production or improper use of insulin, leading to elevated blood glucose levels. Unlike the more common Type 1 Diabetes Mellitus, which typically develops later in childhood or adolescence, NDM manifests very early in life and is attributed to genetic factors, hence classified as a monogenic diabetes. NDM is divided into two main types: Permanent Neonatal Diabetes Mellitus (PNDM) and Transient Neonatal Diabetes Mellitus (TNDM).

Permanent Neonatal Diabetes Mellitus (PNDM)

PNDM is a lifelong condition where the infant will require insulin therapy or other treatments to manage glucose levels throughout their life. This condition results from mutations in genes responsible for the development and function of pancreatic beta cells, which are crucial for insulin production.

Transient Neonatal Diabetes Mellitus (TNDM)

TNDM is a temporary form of diabetes that appears shortly after birth but disappears within the first 12 months of life. However, individuals with TNDM have a significant risk of developing diabetes again later in life. TNDM is often associated with abnormalities in an imprinted region of chromosome 6, affecting insulin secretion.

Symptoms and Diagnosis

Infants with NDM typically present symptoms similar to those of Type 1 Diabetes, including excessive thirst, frequent urination, dehydration, and failure to gain weight. Early diagnosis and treatment are crucial to prevent severe complications such as diabetic ketoacidosis. Diagnosis involves measuring blood glucose levels and genetic testing to identify the specific gene mutation.

Treatment

Treatment for NDM depends on its type. PNDM requires lifelong management with insulin or other drugs like sulfonylureas, which can sometimes replace insulin therapy in certain genetic forms of the disease. TNDM management involves insulin therapy until the condition resolves, with close monitoring for potential diabetes recurrence later in life.

Research and Outlook

Ongoing research aims to better understand the genetic mutations leading to NDM and develop targeted treatments that can improve management and outcomes for affected infants. Early diagnosis and advancements in treatment have significantly improved the quality of life for individuals with NDM.

Glossary

• Insulin - A hormone produced by the pancreas that regulates blood glucose levels.
• Glucose - A simple sugar that serves as the main source of energy for the body's cells.
• Diabetic ketoacidosis - A serious diabetes complication where the body produces excess blood acids (ketones).
• Pancreatic beta cells - Cells in the pancreas that produce and release insulin.
• Monogenic diabetes - A form of diabetes caused by a mutation in a single gene.
• Gene mutation - A permanent alteration in the DNA sequence that makes up a gene.
• Chromosome 6 - One of the 23 pairs of chromosomes in humans. Certain regions are associated with TNDM.
• Sulfonylureas - A class of medications used to increase insulin output by the pancreas.
• Genetic testing - Testing that identifies changes in chromosomes, genes, or proteins to diagnose genetic conditions.

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