maturity-onset diabetes of the young type 1

Maturity-onset diabetes of the young (MODY) type 1, also known as HNF1A-MODY, is a form of monogenic diabetes caused by mutations in the HNF1A gene. This gene provides instructions

Early Signs and Symptoms

Maturity-onset diabetes of the young (MODY) type 1, also known as HNF1A-MODY or HNF4A-MODY, is characterized by a gradual development of symptoms over time. Early signs and symptoms in these types are caused by high blood glucose levels and may include:

• Frequent urination (polyuria)
• Increased thirst
• Dehydration
• Blurry vision
• Recurring infections, such as skin and yeast infections

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

Other Possible Symptoms

In addition to the above-mentioned symptoms, people with MODY type 1 may also experience:

• No symptoms at all
• Gradual weight loss despite increased appetite
• Fatigue and weakness
• Slow healing of cuts and wounds

It's essential to note that some individuals may not exhibit any noticeable symptoms until their blood sugar levels are significantly elevated.

References

• [3] Tattersall and Fajans coined the term mature onset diabetes of the young (MODY) in 1974, describing its autosomal dominant inheritance.
• [5] Clinical resources mention HNF1A-MODY and HNF4A-MODY having similar signs and symptoms that develop slowly over time.
• [6] Early signs and symptoms in these types are caused by high blood glucose levels.
• [8] Symptoms include frequent urination, increased thirst, dehydration, blurry vision, and recurring infections.

Please note that the information provided is based on the search results and may not be an exhaustive list of all possible symptoms. If you have any specific concerns or questions, it's always best to consult a healthcare professional for personalized advice.

Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent form of diabetes mellitus that can be challenging to diagnose, especially when it presents with symptoms similar to those of type 1 and type 2 diabetes. However, there are several diagnostic tests that can help identify MODY.

Genetic Testing: Genetic testing for monogenic diabetes (R141 and R143) is essential to determine the genetic subtype of MODY, which in turn determines the patient's clinical features, clinical course, and management [3]. This test involves analyzing DNA samples from patients to identify mutations in specific genes associated with MODY.

Blood Tests: Blood tests are used to diagnose diabetes and rule out other conditions. A blood sugar test can show high levels of sugar that indicate diabetes [6]. Additionally, testing for pancreatic antibodies and C-peptide levels can help differentiate MODY from type 1 and type 2 diabetes [8].

Diagnostic Algorithm: A diagnostic algorithm has been proposed to identify young adults with diabetes who should be referred for MODY genetic testing (Fig. 1) [15]. This algorithm takes into account factors such as age of onset, family history, and presence of autoantibodies.

Common Causes of MODY: Mutations in the glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and hepatocyte nuclear factor 4α (HNF4A) genes are the most common causes of MODY [14]. Diagnostic and predictive genetic tests for these common causes of MODY are available.

Important Considerations: It is essential to distinguish MODY from type 1 and type 2 diabetes, as this can impact treatment and management decisions. Misdiagnosis

Treatment Options for MODY Type 1

Maturity-onset diabetes of the young (MODY) type 1 is a form of diabetes that is often treated with oral medications or insulin injections. The specific treatment may vary depending on the individual's genetic makeup and blood sugar levels.

• Sulfonylureas: Individuals with MODY 1 are sensitive to sulfonylureas, which cause the pancreas to make more insulin. Low-dose sulfonylureas are generally the first-line treatment for these patients [6].
• Other glucose-lowering medications: Established treatment options for MODY include various glucose-lowering medications such as meglitinides and insulin [7].

It's worth noting that some people with MODY may not require any treatment, or their blood sugars may remain mildly elevated without causing typical diabetic complications.

References

• Individuals with MODY 1 are sensitive to sulfonylureas and thus, low-dose sulfonylureas are generally the first-line treatment in these patients [6].
• Established treatment options for MODY include various glucose-lowering medications such as sulfonylureas, meglitinides, and insulin [7].

Differential Diagnosis of MODY from Type 1 Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that can sometimes be mistaken for type 1 diabetes mellitus (DM1). To differentiate between the two, several factors are considered:

• Age of onset: MODY typically manifests before 25 years of age, whereas type 1 diabetes usually develops in childhood or adolescence.
• Autoantibodies: Patients with MODY do not have beta-cell autoimmunity, which is a characteristic feature of type 1 diabetes [8].
• Insulin secretion: In contrast to type 1 diabetes, patients with MODY exhibit sustained insulin secretion with age, indicating preserved pancreatic beta-cell function [2].
• Family history: MODY has an autosomal dominant mode of inheritance, meaning that if one parent has the condition, each child has a 50% chance of inheriting it. Type 1 diabetes does not have a strong family history component.
• Clinical characteristics: While both conditions can present with similar symptoms, such as polyuria and polydipsia, MODY is often associated with features of metabolic syndrome, including central obesity, hypertension, and dyslipidemia [10].

Key differences between MODY and Type 1 Diabetes

References

[2] by R Kant · 2022 · Cited by 18 — Unlike those with type 1 diabetes, patients with MODY have preserved pancreatic beta-cell function three to five years after diagnosis, as evidenced by ...

[8] by K Zečević · 2024 · Cited by 4 — Diagnostic criteria most often include; (1) onset age before 25 years, (2) absence of β pancreatic cells antibodies, (3) sustained insulin secretion with ...

[10] Maturity Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic disorders characterised by β cell dysfunction. ... One to two per cent of cases of diabetes have a monogenic cause but delayed diagnosis and misdiagnosis as type 1 and type 2 diabetes are common Mutations in the glucokinase (GCK), hepatocyte nuclear factor ...

Note: The references provided are specific to the context and may not be exhaustive.