OVERVIEW

What is Neonatal Diabetes?

Neonatal diabetes was first reported in 1852 and is defined as persistent hyperglycemia (fasting blood glucose >7.0 mmol/L) lasting more than 2 weeks in infants under 6 months of age, requiring insulin treatment.

Neonatal diabetes is caused by genetic mutations. Over 20 gene mutations associated with neonatal diabetes have been reported to date. These mutations lead to insufficient insulin secretion, resulting in low birth weight, developmental delays, hyperglycemia, polyuria, dehydration, and even severe complications such as ketoacidosis.

Early-stage neonatal diabetes requires insulin therapy. After a confirmed diagnosis, most affected infants can gradually transition from insulin to oral sulfonylurea medications. With good medication adherence by parents and infants, the prognosis is generally favorable. Less than 10% of cases may experience tooth discoloration, but this does not affect continued sulfonylurea treatment.

Are Neonatal Diabetes and Neonatal Hyperglycemia the Same?

No, they are not.

Neonatal diabetes is a rare cause of neonatal hyperglycemia. Common causes of neonatal hyperglycemia include prematurity, stress, glucose infusion, and sepsis.

Is Neonatal Diabetes Common?

It is extremely rare, occurring in approximately 1 in 500,000 newborns.

SYMPTOMS

What are the types of neonatal diabetes?

It is divided into transient and permanent types. Transient neonatal diabetes often resolves within 18 months after birth, but there is a 50% chance of recurrence during childhood or adolescence.

What are the symptoms of neonatal diabetes?

Neonatal diabetes often presents prenatally as intrauterine growth restriction, and after birth, infants may be diagnosed as small for gestational age due to low birth weight.

After birth, symptoms such as slow weight gain, feeding difficulties, poor responsiveness, polyuria, dehydration, and even ketoacidosis may occur.

What serious complications can neonatal diabetes cause?

Without timely diagnosis and treatment, neonatal diabetes can lead to severe growth retardation, persistent hyperglycemia, early-onset vascular complications of diabetes, and life-threatening conditions such as severe dehydration and ketoacidosis.

CAUSES

What is the cause of neonatal diabetes?

It is primarily related to gene mutations, with over 20 reported gene mutations known to cause neonatal diabetes. A very small number of cases are caused by pancreatic agenesis or hypoplasia.

Is neonatal diabetes a genetic disorder?

Neonatal diabetes is a disease caused by gene mutations and is considered a genetic disorder. The inheritance pattern appears to follow autosomal dominance, but due to the limited number of cases, research is not yet extensive.

Who are the common patients with neonatal diabetes?

This disease is extremely rare, and there is no specific high-risk population.

DIAGNOSIS

Under what circumstances can neonatal diabetes be diagnosed?

Neonatal diabetes can be diagnosed when doctors detect elevated glucose levels in the baby's blood or urine. It is sometimes confused with type 1 diabetes. Since neonatal diabetes is caused by genetic mutations, genetic testing can help confirm the diagnosis.

What tests are needed to diagnose neonatal diabetes?

• Physical examination: Infants with neonatal diabetes often exhibit slow or stagnant weight gain, significant developmental delays, irritability, and signs of dehydration.
• Ancillary tests: These include blood glucose, urine glucose and ketones, glycated hemoglobin (HbA1c), C-peptide, insulin autoantibodies, and genetic sequencing of both the infant and parents.

How is neonatal diabetes definitively diagnosed?

A preliminary diagnosis of neonatal diabetes can be made if fasting blood glucose levels are ≥ 7.0 mmol/L (after fasting for 4 hours in the neonatal period or 8 hours in infancy) for more than 2 weeks, insulin therapy is required to maintain normal blood sugar, the age of onset is < 6 months, C-peptide levels are low or at the lower limit of normal, and autoantibody tests are negative. Genetic testing can confirm the diagnosis.

Besides neonatal diabetes, what other conditions should be considered for neonatal hyperglycemia?

Transient hyperglycemia in preterm infants, Pearson syndrome, Fanconi-Bickel syndrome, etc.

TREATMENT

Which department should be consulted for neonatal diabetes?

Neonatology, Pediatrics, Endocrinology.

Can neonatal diabetes be completely cured?

There is currently no cure, but the vast majority of affected children can achieve stable blood sugar control through insulin or oral medications, allowing them to live normal daily lives.

Does neonatal diabetes require hospitalization?

At the onset of neonatal diabetes, hospitalization is necessary for diagnosis and treatment planning. Once blood sugar is stabilized, the child can continue treatment and blood sugar monitoring at home, with regular outpatient follow-ups.

How is neonatal diabetes treated?

Treatment involves intravenous or subcutaneous insulin injections, or continuous subcutaneous insulin infusion via an insulin pump. For children with ABCC8 and KCNJ11 gene mutations (the most common mutation types in China), the vast majority can transition entirely from insulin to oral sulfonylurea drugs with good results.

Is the mortality risk high for neonatal diabetes?

Neonatal diabetes is relatively rare, and early diagnosis is crucial. According to literature, the mortality rate for neonatal diabetes caused by genetic mutations is 32.5%, while for cases caused by congenital pancreatic hypoplasia, the mortality rate is as high as 69%.

DIET & LIFESTYLE

How should infants with neonatal diabetes be fed?

As with healthy infants, breastfeeding is recommended. There is no need to restrict nutritional intake due to concerns about high blood sugar. Instead, under the guidance of clinicians, insulin or oral medication dosage should be adjusted while ensuring the infant's nutritional needs are met, and blood glucose should be monitored regularly.

How should infants with neonatal diabetes be cared for?

Similar to the daily management of type 1 diabetes, parents of infants with neonatal diabetes should be particularly vigilant about hypoglycemia caused by medication overdose or insufficient food intake. Close observation of the child's mental state, regular blood glucose monitoring, and knowledge of how to manage hypo- and hyperglycemia are essential.

Can infants with neonatal diabetes grow up, get married, and have children like normal children?

As long as blood sugar levels are kept within the normal range, infants with neonatal diabetes can grow up, get married, and have children. Some may experience mild intellectual impairment or learning difficulties.

Since this is a genetic condition, patients are advised to seek pre-pregnancy counseling at a eugenics clinic before planning a pregnancy.

Does neonatal diabetes affect a child's lifespan?

If blood sugar is well controlled, it will not affect the child's lifespan. Poor blood sugar control, however, can lead to various hyperglycemia-related complications, impacting quality of life and even longevity.

PREVENTION

Can Neonatal Diabetes Be Prevented? How to Prevent It?

Neonatal diabetes is a disease caused by genetic mutations. The parents of affected children are generally healthy and do not undergo genetic sequencing before pregnancy, so it is essentially unpreventable.

When patients with this condition reach adulthood and plan to conceive, genetic counseling is recommended to avoid passing it on to their offspring.