permanent neonatal diabetes mellitus

Permanent Neonatal Diabetes Mellitus (PNDM) Overview

Permanent neonatal diabetes mellitus (PNDM) is a rare and serious form of diabetes that affects newborn babies. It is characterized by the onset of hyperglycemia (high blood sugar levels) within the first six months of life, with some cases persisting throughout infancy and even into childhood.

Key Characteristics

• Early Onset: PNDM typically develops within the first 6 months of life.
• Persistent Hyperglycemia: Babies with PNDM experience high blood sugar levels that can lead to severe health complications if left untreated.
• Monogenic Form: PNDM is a monogenic form of neonatal diabetes, meaning it is caused by mutations in single genes.

Prevalence and Impact

• Rare Condition: PNDM affects approximately 1 in 260,000 babies born worldwide.
• Lifelong Condition: Half of babies diagnosed with neonatal diabetes have a lifelong condition like PNDM.

References

• [1] Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the ... (Source: #1)
• [2] Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the ... (Source: #2)
• [3] Clinical characteristics: Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean ... (Source: #3)
• [4] Background: Neonatal diabetes mellitus (NDM) is defined as diabetes with onset before 6 months of age. Nearly half of individuals with NDM are affected by ... (Source: #4)
• [5] Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90000 live births). It is defined by the presence of severe hyperglycaemia ... (Source: #5)
• [6] Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of monogenic diabetes. This type of neonatal diabetes is ... (Source: #6)
• [7] INTRODUCTION. Neonatal diabetes mellitus (DM) is characterized by the onset of persistent hyperglycemia within the first six months of life ... (Source: #7)
• [8] Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12. (Source: #8)
• [9] Half of babies diagnosed with neonatal diabetes have a lifelong condition. This is called permanent neonatal diabetes mellitus. It occurs in 1 in 260,000 babies ... (Source: #9)

Symptoms of Permanent Neonatal Diabetes Mellitus

Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes that appears within the first 6 months of life and persists throughout one's lifetime. The symptoms of PNDM can be severe and may include:

• Dehydration: One of the most common symptoms of PNDM, dehydration occurs when the body loses more fluids than it takes in, causing an imbalance in electrolytes and water (1, 3).
• Excessive thirst: People with PNDM often experience excessive thirst due to high blood sugar levels, which can lead to increased urination (2, 8).
• Frequent urination: As the body tries to flush out excess glucose from the bloodstream, individuals with PNDM may experience frequent urination (5, 9).
• Hyperglycemia: High blood sugar levels are a hallmark of diabetes, including PNDM. This can lead to various complications if left untreated (2, 6).

It's essential for parents or caregivers to recognize these symptoms and seek medical attention promptly, as early diagnosis and treatment can significantly improve outcomes.

References:

1. Context result 3: "Permanent neonatal diabetes mellitus - This type remains for life. What are the signs and symptoms of neonatal diabetes? Dehydration; Excessive thirst..."
2. Context result 2: "Initial clinical manifestations include hyperglycemia, glycosuria, intrauterine growth retardation, osmotic polyuria, severe dehydration, and failure to gain..."
3. Context result 1: "What Are the Symptoms of Neonatal Diabetes? · Increased numbers of wet diapers · Increased appetite · Dehydration."
4. Context result 5: "The symptoms of neonatal diabetes include persistent thirst, frequent urination and dehydration. Presence of diabetes mellitus can be diagnosed with a blood..."
5. Context result 8: "What are the symptoms of neonatal diabetes? · excessive thirst · frequent urination · dehydration (and associated symptoms, e.g. tiredness, headaches, dry mouth, ..."
6. Context result 9: "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma."
7. Context result 4: "Jul 1, 2011 — Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the..."
8. Context result 6: "by M Polak · 2007 · Cited by 278 — Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis, which may be severe with coma in a..."

Diagnostic Tests for Permanent Neonatal Diabetes Mellitus

Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes that affects infants and young children. Diagnosing PNDM requires a combination of clinical evaluation, laboratory tests, and genetic analysis.

• Laboratory Assessment: Initial assessment of children with suspected PNDM should include laboratory assessment of urine ketones, serum glucose, c-peptide, and insulin levels [1].
• Genetic Testing: Genetic testing is essential for diagnosing PNDM. It involves analyzing the genes associated with the condition to confirm the diagnosis and guide management [3]. The Neonatal Diabetes Panel includes sequence and deletion/duplication analysis of over 30 nuclear genes associated with neonatal diabetes and analysis for mutations in other genes [5].
• Blood Tests: Blood tests can help diagnose PNDM by measuring plasma insulin concentrations, glucose levels, and other related parameters. These tests are usually performed to confirm the diagnosis and rule out other conditions [2, 9].

Differential Diagnoses

PNDM should be differentiated from other forms of diabetes, such as type 1 diabetes mellitus, and other conditions that may present with similar symptoms.

• Type 1 Diabetes Mellitus: Type 1 diabetes is a common form of diabetes in children, but it typically presents later than PNDM [3].
• Other Conditions: Other conditions, such as pancreatic disorders or hormonal imbalances, should also be ruled out when diagnosing PNDM [6].

References

[1] MB Lemelman. Initial assessment of children with suspected disease should include laboratory assessment of urine ketones, serum glucose, c-peptide, and insulin levels.

[2] Jul 1, 2011. Genetic Testing Registry: Permanent neonatal diabetes mellitus.

[3] Molecular genetic testing of the implicated genes confirms the diagnosis and guides management.

[5] The Neonatal Diabetes Panel includes sequence and deletion/duplication analysis of over 30 nuclear genes associated with neonatal diabetes and analysis for mutations in other genes.

[6] by SE Pinney. DIAGNOSIS · DIAGNOSTIC EVALUATION · Genetic testing · DIFFERENTIAL DIAGNOSIS · MANAGEMENT · Overview · Fluid and electrolyte management.

[9] Diagnosis is based on the clinical signs of TNDM and hyperglycemia and is confirmed by laboratory findings showing abnormal plasma insulin concentrations and by molecular genetic testing.

Treatment Options for Permanent Neonatal Diabetes Mellitus (PNDM)

Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes that appears within the first 6 months of life and persists throughout the lifespan. While there are various treatment options available, the primary goal is to manage blood sugar levels and prevent complications.

Insulin Therapy

Immediate treatment for PNDM involves rehydration and administration of intravenous insulin [3]. Insulin can rapidly be switched to subcutaneously administered preparations [3].

Sulfonylurea Therapy

Research has shown that sulfonylureas provide a better metabolic equilibrium than insulin in some cases, normalizing the HbA1c levels [5]. Sulfonylureas have been successfully used to treat patients with PNDM, including those with novel KCNJ11 mutations [8].

Repaglinide Therapy

Repaglinide can be administered for the treatment of patients with PNDM. Studies have observed no complications of diabetes or any neurological damage due to repaglinide therapy [7].

Oral Sulfonylurea Treatment

Research has demonstrated the feasibility of oral sulfonylurea treatment in PNDM patients, even during infancy [9]. This treatment option can be effective for patients with Kir6.2 mutations.

In conclusion, while insulin therapy is often used to manage blood sugar levels in PNDM patients, other treatment options such as sulfonylureas and repaglinide may also be effective. The choice of treatment depends on the individual patient's needs and medical history.

References:

[1] De León DD (2016) - Therapy with insulin and/or oral hypoglycemic medications can correct hyperglycemia. [3] Zübarioğlu AU (2018) - Immediate treatment involves rehydration and administration of intravenous insulin. [5] Beltrand J (2020) - Sulfonylureas provide a better metabolic equilibrium than insulin by normalizing the HbA1c levels. [7] Razzaghy-Azar M (2021) - Repaglinide can be administered for the treatment of patients with PNDM. [8] Ahn SY (2015) - Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. [9] Zung A (2004) - Oral sulfonylurea treatment is feasible for PNDM patients with Kir6.2 mutations even during infancy.

Understanding Differential in Various Contexts

The term "differential" has multiple meanings across various fields, including mathematics, science, technology, social sciences, medicine, and more.

• Calculus and Mathematics: In calculus, a differential represents an infinitesimal change in a variable. It is used to approximate certain values of a function (1). The derivative of a function at a point x0 is defined as the limit as Δx approaches 0 of the quotient Δy/Δx, where Δy is f(x0 + Δx) - f(x0) (6).
• Gear Train and Engineering: A differential is a gear train that allows different speeds of rotation for two or more shafts. It has various applications in vehicles, clocks, computers, and other mechanical systems (3).
• Science and Technology: In science and technology, differential refers to the process of making distinctions between individuals or classes based on differences (2). It is also used in cryptography and diagnosis.
• Social Sciences and Medicine: Differential has various meanings in social sciences and medicine, including diagnosis and treatment.

Key Points

• Differential has multiple meanings across various fields.
• In calculus, a differential represents an infinitesimal change in a variable.
• A differential is a gear train that allows different speeds of rotation for two or more shafts.
• Differential is used in science and technology to make distinctions between individuals or classes based on differences.

References

1. The term differential is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity.
2. The meaning of DIFFERENTIAL is of, relating to, or constituting a difference : distinguishing.
3. A differential is a gear train that allows different speeds of rotation for two or more shafts.
4. Differential has multiple meanings in mathematics, science, technology, social sciences, medicine and other fields.
5. There is a nice application to differentials.
6. differential, in mathematics, an expression based on the derivative of a function, useful for approximating certain values of the function.