maturity-onset diabetes of the young type 7

Maturity-onset diabetes of the young (MODY) type 7, also known as MODY7, is a rare form of monogenic diabetes that affects individuals with impaired glucose metabolism.

Characteristics:

• Rarity: MODY7 is a rare form of MODY, making up only a small percentage of all MODY cases.
• Genetic cause: MODY7 is caused by a heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25 [3].
• Impaired glucose metabolism: Individuals with MODY7 experience impaired glucose metabolism, leading to abnormally high levels of blood glucose (hyperglycemia).
• Microvascular complications: Strict evaluation of glycemic control and the appearance of microvascular complications are key areas in the follow-up of individuals with MODY7 [1].

Key points:

• MODY7 is a non-insulin-dependent form of diabetes mellitus, meaning that it does not require insulin therapy for management.
• It is usually diagnosed in young adulthood, although it can manifest at any age.
• The disease is characterized by persistent fasting hyperglycemia and the presence of residual pancreatic function [5].
• MODY7 is a monogenic form of diabetes, meaning that it is caused by a mutation in a single gene.

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 [10].

[3] A heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25 causes MODY7.

[5] Individuals with MODY7 experience persistent fasting hyperglycemia and the presence of residual pancreatic function.

Note: The above information is based on the provided context, which includes search results from various sources.

Maturity-onset diabetes of the young (MODY) type 7, also known as HNF1A-MODY or HNF4A-MODY, is a form of inherited diabetes that typically develops slowly over time. The early signs and symptoms of MODY type 7 are caused by high blood glucose levels and may include:

• Frequent urination (polyuria)
• Excessive thirst (polydipsia)
• Fatigue
• Blurred vision
• Weight loss
• Recurrent skin infections

These symptoms can develop slowly over time, similar to what happens in type 2 diabetes. In contrast, the symptoms of type 1 diabetes often occur quickly over a few weeks.

It's worth noting that some people with MODY type 7 may not experience any noticeable symptoms at all, especially in the early stages of the condition.

References:

• [3] Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections.
• [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), ...

Maturity-onset diabetes of the young (MODY) type 7 can be challenging to diagnose, but several diagnostic tests are available to help identify this condition.

• Genetic testing: Genetic testing is essential for diagnosing MODY type 7. This test analyzes multiple genes associated with MODY and can determine the specific genetic subtype [3]. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha [13].
• Molecular testing: Molecular testing is recommended to guide treatment for MODY and non-diabetic (ND) conditions. This test can help distinguish MODY from other forms of diabetes, such as type 1 and type 2 diabetes mellitus [8].
• Blood sugar tests: Blood sugar tests are the first step toward diagnosing MODY. If your results indicate you have diabetes, your doctor may order additional tests to confirm the diagnosis [6].

It's worth noting that genetic testing of all MODY genes is essential to determine the genetic subtype as this in turn determines the patient's clinical features, clinical course and management [3].

Treatment Options for MODY Type 7

Maturity-onset diabetes of the young (MODY) type 7 is a form of diabetes that can be effectively managed with various treatment options. According to recent studies, patients with MODY7 may benefit from the administration of oral antidiabetic drugs, subcutaneous insulin injections, and dietary intervention [6].

Oral Medications

Established treatment options for MODY include various glucose-lowering medications such as sulfonylureas, meglitinides, and insulin. Sulphonylureas are effective in managing patients with HNF1A- and HNF4A–MODY, while additional treatment with other oral hypoglycemic agents may be necessary [1][10].

Insulin Therapy

Some people with MODY may require insulin injections to achieve the same glycemic control that another person may attain with careful eating or an oral medication. Insulin therapy is often initiated in patients who have difficulty controlling their blood sugar levels with diet and exercise alone [9].

Specific Treatment for MODY7

Typically, therapy is initiated with 20 mg of gliclazide or 1.25 mg of glibenclamide once a day. Sulfonylureas may cause side effects, such as hypoglycemia, but are often effective in managing blood sugar levels [8].

Additional Treatment Options

Improvement in blood glucose levels has been observed with sulfonylurea treatment. With the expansion of genetic technology, many genes linked to MODY have been identified, and specific treatment options may be developed for each type [2]. Patients with MODY2 have mild symptoms and may not require any treatment, but this is not typically the case for MODY7.

References

[1] M Delvecchio (2020) - Sulphonylureas are effective in managing patients with HNF1A- and HNF4A–MODY, while additional treatment with other oral hypoglycemic agents may be necessary. [2] LS Hoffman (2023) - Improvement in blood glucose levels has been observed with sulfonylurea treatment. [6] Y Wang (2024) - MODY7 patients may benefit from the administration of oral antidiabetic drugs, subcutaneous insulin injections and dietary intervention. [8] K Zečević (2024) - Typically, therapy is initiated with 20 mg of gliclazide or 1.25 mg of glibenclamide once a day. [9] - Some people with MODY may require insulin injections to achieve the same glycemic control that another person may attain with careful eating or an oral medication. [10] KM Nkonge (2020) - Established treatment options for MODY include various glucose-lowering medications such as sulfonylureas, meglitinides, and insulin.

Maturity-onset diabetes of the young (MODY) type 7 can be challenging to diagnose due to its rarity and similarity in presentation with other forms of diabetes. However, there are some key factors that can help in differential diagnosis.

Clinical Characteristics

• Patients with MODY 7 often present with pancreatic malignancy, which is a distinctive feature compared to other types of MODY [4].
• They may also exhibit features such as younger age at diagnosis, lower body mass index (BMI), and lower HbA1c levels compared to type 2 diabetics [3].

Genetic Defect

• The primary genetic defect affecting exocrine function is a key factor in the differential diagnosis of MODY 7 [4].
• This defect can be distinguished from other forms of MODY by its unique characteristics and inheritance pattern.

Differential Diagnosis

• MODY 7 should be suspected in patients who present with pancreatic malignancy and other features mentioned above.
• It is essential to rule out other forms of diabetes, such as type 1 or 2 diabetes, which can have similar presentations [2].

References:

• [4] K Zečević (2024) - Patients with MODY 7 can also be clinically characterized by pancreatic malignancy. MODY 8 is a rare MODY form and the primary genetic defect affects exocrine function.
• [3] KM Jang (2020) - Compared to type 2 diabetics, patients with MODY tend to have a lower body mass index, lower HbA1c level, younger age at diagnosis, higher probability of being nonobese, and other features that can aid in differential diagnosis.
• [2] R Kant (2022) - MODY is often misdiagnosed as type 1 or 2 diabetes and should be suspected in nonobese patients who have diabetes that was diagnosed at a young age.