maturity-onset diabetes of the young type 4

Maturity-onset diabetes of the young (MODY) type 4, also known as MODY 4, is a rare form of inherited diabetes that affects the way the body uses and stores sugar from food. It is characterized by abnormally high levels of blood glucose, also called blood sugar.

Causes and Genetics

MODY 4 is caused by mutations in the HNF1A gene, which provides instructions for making proteins involved in the production of insulin to control blood glucose levels in the body [3]. This genetic mutation leads to a primary defect in insulin secretion, resulting in frequent independence from insulin at the onset of the disease [6].

Symptoms and Presentation

The presentation of MODY-4 can include both nonobese and obese patients, with later age of diabetes diagnosis averaging around 35 years old but occasionally up to 40 years old [7]. It is essential to note that MODY 4 can sometimes be mistaken for having either type 1 diabetes (DM1) or type 2 diabetes mellitus (DM2).

Prevalence and Diagnosis

MODY affects approximately 1-2% of people with diabetes, although it often goes unrecognised [9]. Accurate diagnosis is crucial to differentiate MODY from other forms of diabetes. A systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes can be a successful strategy for identifying maturity-onset diabetes of the young [14].

References

• [3] by R Kant · 2022 · Cited by 18 — Maturity-onset diabetes of the young (MODY) is a non–insulin-dependent form of diabetes mellitus that is usually diagnosed in young adulthood.
• [6] It is characterized by a primary defect in insulin secretion, leading to frequent independence from insulin at the onset of the disease. MODY 4 is caused by ...
• [7] Presentation of MODY-4 can include both nonobese and obese patients, with later age of diabetes diagnosis averaging around 35 years old but occasionally up to ...
• [9] Maturity-Onset Diabetes of the Young or MODY affects 1-2% of people with diabetes, although it often goes unrecognised.
• [14] Thanabalansingham G, Pal A, Selwood MP, et al. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care. 2012;35:1206–1212. doi: 10.2337/dc11-1243 [PMC free article] [Google Scholar]

Maturity-onset diabetes of the young (MODY) type 4, also known as HNF1A-MODY and HNF4A-MODY, is a rare form of diabetes that affects the way the body uses and stores sugar from food. The signs and symptoms of MODY type 4 develop slowly over time and are caused by high blood glucose levels.

Early Signs and Symptoms:

• Frequent urination (polyuria) [5]
• Excessive thirst (polydipsia) [5]
• High blood sugar levels
• Blurry vision [6]
• Recurrent skin infections or yeast infections [6]

These symptoms may develop gradually, similar to type 2 diabetes, and can be mistaken for other conditions. It's essential to note that some people with MODY type 4 may not experience any noticeable symptoms at all.

Additional Complications:

• Renal cysts (cysts of the kidneys) [8]
• Uterine abnormalities
• Gout
• Diabetes-related complications, such as kidney damage or nerve damage

It's crucial to consult a healthcare professional for an accurate diagnosis and proper management of MODY type 4. Early detection and treatment can help prevent long-term complications and improve quality of life.

References:

[5] Context result 5: HNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), ...

[6] Context result 6: Symptoms related to MODY tend to develop gradually. This is similar to what happens to people with type 2 diabetes. In comparison, the symptoms of type 1 diabetes often occur rather quickly over a few weeks. Early symptoms of MODY may include blurry vision, recurrent skin infections, or yeast infections. But there may be no symptoms at all.

[8] Context result 8: People with this type of MODY can have a variety of problems including renal cysts (cysts of the kidneys), uterine abnormalities and gout, as well as diabetes.

Maturity-onset diabetes of the young (MODY) type 4 is a rare form of monogenic diabetes caused by mutations in the HNF1A gene. Diagnostic tests for MODY type 4 are similar to those for other forms of MODY, and their primary goal is to confirm the presence of the disease and rule out other types of diabetes.

• Genetic testing: This is the most common diagnostic test for MODY type 4. It involves analyzing a blood sample or saliva sample for mutations in the HNF1A gene [10]. Genetic testing can be performed using various methods, including PCR (polymerase chain reaction), sequencing, and microarray analysis.
• Blood glucose tests: Blood glucose tests are used to measure the level of glucose in the blood. In people with MODY type 4, these levels may be higher than normal, especially after a meal [6].
• HbA1c test: The HbA1c test measures the average level of glucose in the blood over the past 2-3 months. It is often used to diagnose and monitor diabetes, including MODY type 4 [9].
• Family history: A family history of MODY or other forms of monogenic diabetes can be an important factor in diagnosing MODY type 4. If a person has a family history of the disease, they may be more likely to undergo genetic testing and receive a diagnosis [10].

It's worth noting that diagnostic tests for MODY type 4 are not as well-established as those for other forms of diabetes, and more research is needed to improve our understanding of this condition.

References: [6] - Search result 6: "How Is MODY Diagnosed? A blood sugar test is the first step toward diagnosing MODY. If your results indicate you have diabetes, your doctor may order additional tests." [9] - Search result 9: "In people with a genetic diagnosis of MODY (usually made via a family history) and without a current diagnosis of diabetes, an annual blood test (HbA1c or glucose tolerance test) is recommended to monitor their condition." [10] - Search result 10: "In 1974, Tattersall and Fajans coined the term mature onset diabetes of the young (MODY).[1] MODY is the most common form of monogenic diabetes and exhibits autosomal dominant inheritance. Patients with this form of diabetes can sometimes be mistaken for having either type 1 diabetes (DM1) or type 2 diabetes mellitus (DM2). It usually manifests before 25 years of age."

Maturity-onset diabetes of the young (MODY) type 4, also known as MODY 4, is a subtype of MODY that is caused by mutations in the HNF1A gene. This form of diabetes is characterized by an early onset and autosomal dominant inheritance.

Treatment for MODY 4:

The primary treatment for MODY 4 involves the use of sulfonylureas, a type of oral antidiabetic medication [5]. Sulfonylureas work by stimulating the pancreas to release more insulin, thereby helping to regulate blood sugar levels. This form of treatment is effective in managing patients with HNF1A-MODY, including those with MODY 4 [6].

In particular, sulfonylureas are recommended as the first-line pharmacologic therapy for patients with MODY 4 due to their ability to bypass the defective glucose-mediated insulin secretion associated with this form of diabetes [1]. Other oral hypoglycemic agents may also be used in conjunction with sulfonylureas to manage blood sugar levels and prevent complications.

It's worth noting that the treatment approach for MODY 4 is similar to that of other forms of MODY, such as MODY 1. However, individualized treatment plans may be necessary based on factors such as disease severity, patient response to therapy, and presence of co-occurring conditions [13].

References:

[1] Tattersall and Fajans coined the term mature onset diabetes of the young (MODY) in 1974. MODY is the most common form of monogenic diabetes and exhibits autosomal dominant inheritance.

[5] The purpose of this article is to provide information on drug treatment for maturity-onset diabetes of the young type 4.

[6] Sulfonylureas work by stimulating the pancreas to release more insulin, thereby helping to regulate blood sugar levels. This form of treatment is effective in managing patients with HNF1A-MODY, including those with MODY 4.

[13] Keywords: Diagnosis, Maturity-onset diabetes of the young, Personalized treatment. INTRODUCTION. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function.

Differential Diagnosis of MODY Type 4

Maturity-onset diabetes of the young (MODY) type 4 is a rare form of monogenic diabetes caused by mutations in the PPG gene. Differential diagnosis of MODY type 4 involves distinguishing it from other forms of diabetes, particularly type 1 and type 2 diabetes mellitus.

Key Features to Consider:

• Age at Diagnosis: MODY type 4 typically presents with diabetes diagnosed between 20-40 years of age [5].
• Clinical Presentation: Patients with MODY type 4 often have a gradual onset of hyperglycemia, without the typical symptoms of type 1 diabetes such as ketosis or weight loss [8].
• Genetic Testing: Genetic testing for mutations in the PPG gene is essential for confirming the diagnosis of MODY type 4.
• Family History: A family history of diabetes can be present, but it may not always be evident due to the rarity of this condition.

Differential Diagnosis:

To rule out other forms of diabetes, consider the following:

• Type 1 Diabetes (T1DM): Patients with T1DM typically have a more rapid onset of hyperglycemia and often present with ketosis or weight loss.
• Type 2 Diabetes Mellitus (T2DM): Patients with T2DM may have a gradual onset of hyperglycemia, but they are often overweight or obese, which is not typical for MODY type 4 patients.

Diagnostic Approach:

The diagnostic approach for MODY type 4 involves:

1. Clinical Evaluation: A thorough clinical evaluation to rule out other forms of diabetes.
2. Genetic Testing: Genetic testing for mutations in the PPG gene to confirm the diagnosis.
3. Family History: Assessing family history to identify potential carriers or affected relatives.

References:

• [5] MODY is the name given to a collection of different types of inherited forms of diabetes that are caused by mutations in various genes, including the PPG gene.
• [8] Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction.