maturity-onset diabetes of the young type 8

Maturity-Onset Diabetes of the Young Type 8 (MODY8) Description

Maturity-onset diabetes of the young type 8, also known as MODY8, is a form of monogenic diabetes that affects individuals before the age of 25 years. It is characterized by a slowly progressive pancreatic exocrine dysfunction [4][5]. This condition is caused by mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase [8].

Key Features:

• Onset of diabetes before age 25 years
• Slowly progressive pancreatic exocrine dysfunction
• Caused by mutations in the CEL gene

MODY8 is a rare form of diabetes that typically presents with mild and stable blood glucose levels, often without any significant symptoms [9]. It is essential to diagnose MODY8 accurately, as it can be distinguished from other forms of diabetes, such as type 1 and type 2 diabetes.

References:

• [4] Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine ...
• [5] ▽ Description ... Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive ...
• [8] by K El Jellas · 2022 · Cited by 28 — Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase.
• [9] Sep 14, 2023 — Maturity-onset diabetes of the young (MODY) typically occurs in adolescents or young adults <35 years of age. Affected individuals often have mild stable ...

Maturity-onset diabetes of the young (MODY) type 8, also known as MODY8, is a rare form of diabetes that affects the pancreas' ability to produce insulin. The signs and symptoms of MODY8 can develop slowly over time and may include:

• Frequent urination (polyuria): As high blood glucose levels cause the kidneys to work harder, leading to increased urine production.
• Excessive thirst (polydipsia): Due to the body's need to compensate for the excess glucose in the blood by producing more urine.
• Fatigue: As the body struggles to produce enough insulin to regulate blood sugar levels.
• Renal cysts: Cysts that form on the kidneys, which can be a complication of MODY8.
• Uterine abnormalities: Women with MODY8 may experience uterine abnormalities, such as fibroids or other reproductive issues.
• Gout: A type of arthritis caused by high levels of uric acid in the blood.

It's essential to note that not everyone with MODY8 will experience all of these symptoms, and some people may have no symptoms at all. If you suspect you or a family member has MODY8, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

• [6] 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), ...
• [7] MODY8 is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic ...

Diagnostic Tests for MODY Type 8

Maturity-onset diabetes of the young (MODY) type 8 is a rare form of diabetes characterized by onset before age 25 years, slowly progressive pancreatic exocrine dysfunction, and fatty replacement of pancreatic tissue. Diagnostic tests play a crucial role in confirming the diagnosis of MODY8.

• Clinical Assessment: A comprehensive clinical assessment is essential to rule out other forms of diabetes and identify patients who may have MODY8. This includes evaluating symptoms, medical history, and laboratory results.
• Genetic Testing: Genetic testing is a key diagnostic tool for MODY8. Commercially available genetic testing can confirm the diagnosis by analyzing specific genes associated with MODY8 (1)[4]. Targeted genetic testing is recommended due to its high cost (2)[4].
• Laboratory Blood Glucose or HbA1c: Patients confirmed to have diabetes through laboratory blood glucose or HbA1c tests are candidates for genetic testing, including monogenic diabetes (R141 and R143) (6).
• Multigene Panel Testing: Comprehensive genetic testing using a multigene panel can help distinguish MODY from other forms of diabetes by analyzing multiple genes associated with the condition (10).

References

[1] Context result 3: Candidates for this test are patients with MODY. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes.

[2] Context result 9: Commercially available genetic testing can confirm the diagnosis of MODY. Targeted genetic testing is appropriate because of high cost (Figure 1).

[4] Context result 9: Commercially available genetic testing can confirm the diagnosis of MODY. Targeted genetic testing is appropriate because of high cost (Figure 1).

[6] Context result 6: Genetic testing for monogenic diabetes (R141 and R143) will only be performed on patients confirmed to have diabetes by laboratory blood glucose or HbA1c.

[10] Context result 10: Clinical assessment and comprehensive genetic testing (serial single gene testing or multigene panel) are used to distinguish MODY from other forms of diabetes.

Treatment Options for MODY Type 8

Maturity-onset diabetes of the young (MODY) type 8 is a form of diabetes caused by mutations in the PAX4 gene. The primary goal of treatment is to manage blood sugar levels and prevent complications.

• Insulin Therapy: Insulin appears to be the most appropriate treatment for MODY Type 8, as it can effectively control blood glucose levels [6][8].
• Oral Anti-Diabetic Drugs (OADs): While not the first-line treatment, OADs such as sulfonylureas or meglitinides may also be used to manage blood sugar levels in some cases [6][8].

It's essential to note that individualized treatment plans may vary depending on the severity of symptoms and other factors. Regular monitoring of blood glucose levels and adjustments to treatment regimens as needed are crucial for effective management.

References:

[6] by K Zečević · 2024 · Cited by 4 — Insulin is the most appropriate treatment for MODY 8 patients, but some can be treated successfully with OADs. These patients also need pancreatic enzyme replacement therapy [7].

[8] by A Tshivhase · 2021 · Cited by 13 — Insulin appears to be the most appropriate treatment for MODY 8; however, OADs can also be used [34,79,81].

Differential Diagnosis of MODY Type 8

Maturity-onset diabetes of the young (MODY) type 8 is a rare form of monogenic diabetes caused by pathogenic mutations involving the adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene. To accurately diagnose MODY type 8, it is essential to rule out other forms of diabetes, particularly type 1 and type 2 diabetes mellitus.

Key Diagnostic Features:

• Young age of onset: MODY type 8 typically manifests before the age of 25.
• Absence of β-cell antibodies: Patients with MODY type 8 do not have detectable levels of β-cell antibodies, which are often present in individuals with type 1 diabetes.
• Sustained insulin secretion: Individuals with MODY type 8 exhibit sustained insulin secretion, even after a prolonged period without glucose intake.

Differential Diagnosis:

To differentiate MODY type 8 from other forms of diabetes, clinicians should consider the following:

• Type 1 diabetes (DM1): Patients with DM1 often have β-cell antibodies and require exogenous insulin for glycemic control.
• Type 2 diabetes mellitus (DM2): Individuals with DM2 may exhibit impaired insulin secretion and are often obese or have a family history of the disease.

Diagnostic Criteria:

The diagnostic criteria for MODY type 8 include:

1. Onset age before 25 years
2. Absence of β pancreatic cells antibodies
3. Sustained insulin secretion with glucose challenge

Genetic Testing:

Genetic testing can confirm the presence of pathogenic mutations in the ABCC8 gene, which is specific to MODY type 8.

References:

• [7] by M Marassi · 2024 — ABCC8-MODY is caused by pathogenic mutations involving the adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene.
• [12] Diagnosis and management of maturity onset diabetes of the young (MODY) Gaya Thanabalasingham, 1 2 Katharine R Owen Maturity onset diabetes of the young (MODY) comprises a heterogeneous group of monogenic disorders characterised by β cell dysfunction.