transient neonatal diabetes mellitus

Transient Neonatal Diabetes Mellitus (TNDB)

Transient neonatal diabetes mellitus (TNDB) is a rare form of diabetes that appears within the first few weeks of life but is transient, meaning it resolves on its own without treatment. This condition is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin [1].

Key Features:

• Age of Onset: TNDB typically presents at birth or within the first few weeks of life.
• Duration: The condition is transient, meaning it resolves on its own without treatment.
• Symptoms: High blood sugar levels (hyperglycemia) resulting from a shortage of insulin.
• Growth Deficiency: People with 6q24-related TNDB experience very slow growth before birth (severe intrauterine growth retardation) [8].

Causes and Genetics:

TNDB is a genetically heterogeneous form of neonatal diabetes, meaning it can be caused by mutations in different genes. The condition is considered to be a type of monogenic diabetes, which means it is inherited in an autosomal dominant pattern [3]. Research suggests that TNDB occurs in approximately 1 in 100,000 live births [3].

References:

• [1] A Novak (2020) - Neonatal diabetes mellitus is a rare form of monogenic diabetes diagnosed before 6 months of age.
• [3] A Novak (2020) - Neonatal diabetes mellitus is a rare form of monogenic diabetes diagnosed before 6 months of age which occurs in approximately 1 in 100,000 live births.
• [8] SE Pinney (no date) - People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation).
• [9] J Beltrand (2020) - Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the first few weeks of life.

Transient Neonatal Diabetes Mellitus (TNDB) Signs and Symptoms

Transient neonatal diabetes mellitus (TNDB) is a rare form of diabetes that occurs in the first few weeks of life, characterized by hyperglycemia and failure to thrive. The signs and symptoms of TNDB are identical to those of permanent neonatal diabetes mellitus, but they typically resolve on their own within 1-18 months.

Common Signs and Symptoms:

• Hyperglycemia: High blood sugar levels
• Failure to Thrive: Poor weight gain and growth in infants
• Dehydration: Excessive thirst and dry mouth
• Ketoacidosis: A potentially life-threatening condition caused by high levels of ketones in the blood

Other Possible Symptoms:

• Excessive Thirst
• Frequent Urination
• Weight Loss
• Weakness and Fatigue

It's essential to note that these symptoms can be severe and may require immediate medical attention. If you suspect your infant has TNDB, it's crucial to consult with a pediatrician or an endocrinologist for proper diagnosis and treatment.

References:

• [1] Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with ... (Source: #10)
• [2] In individuals with 6q24-related transient neonatal diabetes mellitus, these signs and symptoms are most likely to occur during times of physiologic stress, including the rapid growth of infancy, childhood illnesses, and pregnancy. (Source: #11)
• [3] As the name suggests, transient neonatal diabetes doesn’t last forever and usually resolves before the age of 12 months. But it usually recurs later on in life, generally during the teenage years. It accounts for 50–60% of all cases. (Source: #13)

Diagnostic Tests for Transient Neonatal Diabetes Mellitus

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that occurs in infants, typically within the first few weeks of life. Diagnosing TNDM requires a combination of clinical evaluation and laboratory tests.

• Laboratory Assessment: Initial assessment should include laboratory evaluation of urine ketones, serum glucose, C-peptide, and insulin levels ([2]). This helps to confirm the presence of diabetes and assess the severity of the condition.
• Genetic Testing: Genetic testing is also essential for diagnosing TNDM. The Neonatal Diabetes Panel includes sequence and deletion/duplication analysis of over 30 nuclear genes associated with neonatal diabetes ([3]). This test can help identify the underlying genetic cause of the condition.
• Periodic Glucose Tolerance Tests: Periodic glucose tolerance tests can be used to assess insulin secretion and monitor the response to treatment ([4]).
• Imaging Studies: While not directly related to diagnosing TNDM, imaging studies such as ultrasound or MRI may be necessary to rule out other conditions that could be causing the symptoms.

Key Points

• Laboratory assessment is essential for confirming the presence of diabetes in infants.
• Genetic testing can help identify the underlying genetic cause of TNDM.
• Periodic glucose tolerance tests can be used to assess insulin secretion and monitor treatment response.
• Imaging studies may be necessary to rule out other conditions that could be causing symptoms.

References

[2] Initial assessment of children with suspected disease should include laboratory assessment of urine ketones, serum glucose, c-peptide, and insulin levels. [3] The Neonatal Diabetes Panel includes sequence and deletion/duplication analysis of over 30 nuclear genes associated with neonatal diabetes. [4] Periodic glucose tolerance tests can be used to assess insulin secretion.

Treatment Options for Transient Neonatal Diabetes Mellitus (TNDM)

Transient neonatal diabetes mellitus (TNDM) is a rare condition characterized by high blood sugar levels in newborns, which typically resolve on their own within the first few months of life. However, during this period, it's essential to manage the condition effectively to prevent complications.

Oral Sulfonylurea Therapy

One treatment option for TNDM is oral sulfonylurea therapy. A study by Loomba-Albrecht (2009) [2] found that an oral sulfonylurea was a useful treatment option in managing TNDM in one patient. This suggests that sulfonylureas may be effective in controlling blood sugar levels in some cases of TNDM.

Insulin Therapy

Intravenous insulin infusion is often the first line of treatment for sustained hyperglycemia in TNDM [6]. However, as the condition resolves, insulin therapy may no longer be necessary. A study by Ando (2018) [4] found that intensive insulin therapy was used in conjunction with an oral hypoglycemic agent, gliclazide, to manage TNDM.

Other Treatment Options

Sulfonylurea therapy has been shown to be safe and often successful in neonatal diabetes patients before genetic testing results are available [5]. Additionally, chlorpropamide was used to control the disease in one patient beginning at the age of 40 days [7].

Duration of Treatment

The duration of treatment for TNDM varies, but insulin therapy is typically required for an average of 3 months. After this period, the diabetes resolves, and most patients develop type 2 diabetes [8]. However, some cases may require lifelong insulin therapy, as seen in permanent neonatal diabetes mellitus (PNDM) [9].

In conclusion, while there are various treatment options available for TNDM,

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that affects newborns and infants. When it comes to differential diagnosis, there are several conditions that need to be ruled out to confirm the presence of TNDM.

Key Differential Diagnoses:

• Type 1 Diabetes Mellitus: This is the most common form of diabetes in children, but it typically develops after the age of 6 months. However, some cases can occur earlier, and it's essential to rule out type 1 diabetes when diagnosing TNDM.
• Wolcott-Rallison Syndrome: This is a rare genetic disorder that affects the pancreas and can cause neonatal diabetes. It's characterized by episodes of hyperglycemia followed by periods of normoglycemia or hypoglycemia.
• IPEX Syndrome: Also known as Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome, this is a rare genetic disorder that affects the immune system and can cause neonatal diabetes among other symptoms.

Other Conditions to Consider:

• Neonatal Diabetes Mellitus with Abnormal β Cell Function: This refers to cases of neonatal diabetes caused by abnormalities in the 6q24 locus or mutations in genes such as ABCC8 and KCNJ11.
• Permanent Neonatal Diabetes Mellitus: This is a type of diabetes that first appears within the first 6 months of life and persists throughout the individual's lifetime.

Molecular Testing for Differential Diagnosis:

Molecular testing can help differentiate between these conditions, especially when the transient nature of TNDM is not known. According to [2], molecular testing enables differential diagnosis at manifestation between transient and permanent neonatal diabetes mellitus.

References:

• [1] by MB Lemelman · 2018 · Cited by 229 — Other causes include infection, stress, inadequate pancreatic insulin production in the preterm infant, among others.
• [2] by R Bonfanti · 2021 · Cited by 23 — Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/ ...
• [3] by SE Pinney · Cited by 1 — INTRODUCTION. Neonatal diabetes mellitus (DM) is characterized by the onset of persistent hyperglycemia within the first six months of life ...
• [4] by J Beltrand · 2020 · Cited by 81 — The most frequent genetic causes of neonatal diabetes mellitus with abnormal β cell function are abnormalities of the 6q24 locus and mutations ...