maturity-onset diabetes of the young type 5

Maturity-onset diabetes of the young (MODY) type 5, also known as MODY5, is a rare form of monogenic diabetes that affects individuals in their early adulthood or adolescence. This condition is characterized by an autosomal dominant mode of inheritance, meaning that a single copy of the mutated gene is sufficient to cause the disease.

Key Features:

• Early Onset: MODY5 typically develops before the age of 25 [3].
• Monogenic Diabetes: MODY5 is caused by mutations in the HNF1B gene, which codes for a transcription factor involved in pancreatic development and function [1].
• Renal Cysts: A significant feature of MODY5 is the presence of renal cysts, which can be detected through imaging studies such as ultrasound or CT scans [6].
• Hypomagnesemia: Individuals with MODY5 often exhibit low levels of magnesium in their blood (hypomagnesemia) [6].

Distinguishing Features:

• Misdiagnosis Risk: MODY5 can be easily misdiagnosed as type 2 diabetes due to its similar presentation, making genetic testing essential for accurate diagnosis [8].
• Genetic Testing: Genetic analysis is recommended for individuals with young-onset diabetes and renal cysts, as it can confirm the presence of MODY5 or other related conditions [6].

References:

[1] by A Haider · 2021 · Cited by 1 — Renal cysts are the most frequently detected feature of HNF-1β-associated kidney disease, and MODY-5 is also known as renal cysts and diabetes (RCAD) syndrome.

[3] Jul 1, 2020 — Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.

[6] by S Ge · 2022 · Cited by 8 — The young onset of diabetes with low or normal BMI, renal cysts, hypomagnesemia, and pancreatic dysplasia should be recommended to genetic testing.

[8] by S Ge · 2022 · Cited by 8 — Aims: Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is very easy to be misdiagnosed as type 2 diabetes.

The signs and symptoms of maturity-onset diabetes of the young (MODY) type 5 are similar to those of other forms of diabetes, including:

• Frequent urination
• Excessive thirst
• Dehydration
• Blurry vision
• Recurrent skin infections
• Recurrent yeast infections

These outward signs are caused by high blood glucose levels and can vary depending on the individual. In some cases, there may be no symptoms at all.

According to various sources [1][3][6], early symptoms of MODY type 5 may include blurry vision, recurrent skin infections, or yeast infections. However, it's essential to note that not everyone with MODY will experience these symptoms, and the disease can sometimes be asymptomatic [4].

The typical signs and symptoms of diabetes, such as frequent urination and excessive thirst, are also common in MODY type 5 patients [8][9]. It's crucial for individuals suspected of having MODY to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 2: Frequent urination; Thirst; Dehydration; Blurry vision; Recurrent skin infections; Recurrent yeast infections. [3] Context result 6: Early symptoms of MODY may include blurry vision, recurrent skin infections, or yeast infections. But there may be no symptoms at all. People ... [4] Context result 4: ... a mild and asymptomatic form of diabetes that was observed in non-obese children, adolescents, and adults. [6] Context result 6: Early symptoms of MODY may include blurry vision, recurrent skin infections, or yeast infections. But there may be no symptoms at all. People ... [8] Context result 1: Outward signs of MODY 5 are similar to those for the more common forms of diabetes: Frequent urination; Excessive thirst; Dehydration. [9] Context result 9: ... the typical signs and symptoms of diabetes: frequent urination (polyuria), excessive thirst (polydipsia), and dehydration.

Maturity-onset diabetes of the young (MODY) type 5 is a form of monogenic diabetes caused by mutations in the GCK gene. Diagnosing MODY type 5 can be challenging, but several diagnostic tests are used to confirm the diagnosis.

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Treatment Options for MODY 5

Maturity-onset diabetes of the young (MODY) type 5, also known as HNF1A-MODY, is a rare form of diabetes that requires specific treatment approaches. While there are no definitive

The differential diagnosis of Maturity-Onset Diabetes of the Young (MODY) Type 5 involves ruling out other conditions that may present with similar symptoms.

Conditions to Consider

• Type 1 Diabetes Mellitus: MODY-5 is often misdiagnosed as Type 1 diabetes, especially in young patients [3]. However, MODY-5 typically presents with a later onset and without the presence of beta-cell antibodies.
• Type 2 Diabetes Mellitus: MODY-5 can also be mistaken for Type 2 diabetes, particularly if there is a family history of the condition [7].
• Chronic Pancreatitis: This condition can lead to pancreatic atrophy and insufficient insulin production, similar to MODY-5 [9].
• Cystic Fibrosis: Some patients with cystic fibrosis may develop MODY-5 due to mutations in the HNF1B gene [8].

Diagnostic Criteria

To diagnose MODY-5 accurately, clinicians should consider the following criteria:

• Onset age before 25 years
• Absence of beta-cell antibodies
• Sustained insulin secretion with minimal glucose stimulation
• Presence of renal malformations or pancreatic dysplasia

Genetic Testing

In cases where MODY-5 is suspected, genetic testing for mutations in the HNF1B gene can be helpful in confirming the diagnosis [5].

References

[3] Kant R. (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. [7] Ge S. (2022) - As for diagnosis, most MODY5 patients were misdiagnosed as type 1 diabetes or type 2 diabetes. [8] Zečević K. (2024) - Diagnostic criteria most often include; (1) onset age before 25 years, (2) absence of β pancreatic cells antibodies, (3) sustained insulin secretion with minimal glucose stimulation. [9] (2019) - Mutations in this gene can result in pancreatic atrophy leading to insufficient insulin production and a diagnosis of HNF1β diabetes or MODY5.