MODY 1: Difference between revisions
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{{Infobox medical condition | |||
[[File:Autosomal_dominant_-_en.svg| | | name = MODY 1 | ||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = MODY 1 is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = [[HNF4A-MODY]], Hepatocyte nuclear factor 4 alpha maturity onset diabetes of the young | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hyperglycemia]], [[polyuria]], [[polydipsia]], [[weight loss]] | |||
| complications = [[Diabetic complications]], [[cardiovascular disease]] | |||
| onset = Typically in [[adolescence]] or early [[adulthood]] | |||
| duration = [[Chronic condition|Chronic]] | |||
| causes = Mutations in the [[HNF4A]] gene | |||
| risks = Family history of [[diabetes]], [[genetic predisposition]] | |||
| diagnosis = [[Genetic testing]], [[blood glucose]] tests | |||
| differential = [[Type 1 diabetes]], [[Type 2 diabetes]], other forms of [[MODY]] | |||
| treatment = [[Dietary management]], [[oral hypoglycemic agents]], [[insulin therapy]] | |||
| medication = [[Sulfonylureas]], [[insulin]] | |||
| prognosis = Generally good with proper management | |||
| frequency = Rare, accounts for a small percentage of all [[diabetes mellitus]] cases | |||
}} | |||
'''MODY 1''' (Maturity Onset Diabetes of the Young type 1) is a form of [[monogenic diabetes]] that is characterized by an autosomal dominant inheritance pattern. It is one of the several types of MODY, which are caused by mutations in a single gene that affect insulin production or secretion. | '''MODY 1''' (Maturity Onset Diabetes of the Young type 1) is a form of [[monogenic diabetes]] that is characterized by an autosomal dominant inheritance pattern. It is one of the several types of MODY, which are caused by mutations in a single gene that affect insulin production or secretion. | ||
=== Genetic Basis === | === Genetic Basis === | ||
MODY 1 is caused by mutations in the [[HNF4A]] gene, which encodes the [[hepatocyte nuclear factor 4 alpha]]. This gene plays a crucial role in the regulation of [[insulin]] secretion and [[glucose]] metabolism. The mutation leads to impaired insulin secretion, resulting in [[hyperglycemia]]. | MODY 1 is caused by mutations in the [[HNF4A]] gene, which encodes the [[hepatocyte nuclear factor 4 alpha]]. This gene plays a crucial role in the regulation of [[insulin]] secretion and [[glucose]] metabolism. The mutation leads to impaired insulin secretion, resulting in [[hyperglycemia]]. | ||
=== Clinical Features === | === Clinical Features === | ||
Patients with MODY 1 typically present with mild to moderate [[hyperglycemia]] at a young age, often before the age of 25. Unlike [[type 1 diabetes]], MODY 1 does not usually require [[insulin therapy]] initially, and patients may be managed with [[oral hypoglycemic agents]]. | Patients with MODY 1 typically present with mild to moderate [[hyperglycemia]] at a young age, often before the age of 25. Unlike [[type 1 diabetes]], MODY 1 does not usually require [[insulin therapy]] initially, and patients may be managed with [[oral hypoglycemic agents]]. | ||
=== Diagnosis === | === Diagnosis === | ||
The diagnosis of MODY 1 is confirmed through genetic testing, which identifies mutations in the HNF4A gene. Family history is also an important factor, as MODY 1 follows an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder. | The diagnosis of MODY 1 is confirmed through genetic testing, which identifies mutations in the HNF4A gene. Family history is also an important factor, as MODY 1 follows an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder. | ||
=== Management === | === Management === | ||
Management of MODY 1 involves lifestyle modifications, such as [[diet]] and [[exercise]], and the use of oral hypoglycemic agents like [[sulfonylureas]]. In some cases, insulin therapy may be required as the disease progresses. | Management of MODY 1 involves lifestyle modifications, such as [[diet]] and [[exercise]], and the use of oral hypoglycemic agents like [[sulfonylureas]]. In some cases, insulin therapy may be required as the disease progresses. | ||
== See also == | |||
== | |||
* [[MODY 2]] | * [[MODY 2]] | ||
* [[MODY 3]] | * [[MODY 3]] | ||
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* [[Type 2 diabetes]] | * [[Type 2 diabetes]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
[[Category:Diabetes]] | [[Category:Diabetes]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 23:47, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| MODY 1 | |
|---|---|
| |
| Synonyms | HNF4A-MODY, Hepatocyte nuclear factor 4 alpha maturity onset diabetes of the young |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperglycemia, polyuria, polydipsia, weight loss |
| Complications | Diabetic complications, cardiovascular disease |
| Onset | Typically in adolescence or early adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the HNF4A gene |
| Risks | Family history of diabetes, genetic predisposition |
| Diagnosis | Genetic testing, blood glucose tests |
| Differential diagnosis | Type 1 diabetes, Type 2 diabetes, other forms of MODY |
| Prevention | N/A |
| Treatment | Dietary management, oral hypoglycemic agents, insulin therapy |
| Medication | Sulfonylureas, insulin |
| Prognosis | Generally good with proper management |
| Frequency | Rare, accounts for a small percentage of all diabetes mellitus cases |
| Deaths | N/A |
MODY 1 (Maturity Onset Diabetes of the Young type 1) is a form of monogenic diabetes that is characterized by an autosomal dominant inheritance pattern. It is one of the several types of MODY, which are caused by mutations in a single gene that affect insulin production or secretion.
Genetic Basis[edit]
MODY 1 is caused by mutations in the HNF4A gene, which encodes the hepatocyte nuclear factor 4 alpha. This gene plays a crucial role in the regulation of insulin secretion and glucose metabolism. The mutation leads to impaired insulin secretion, resulting in hyperglycemia.
Clinical Features[edit]
Patients with MODY 1 typically present with mild to moderate hyperglycemia at a young age, often before the age of 25. Unlike type 1 diabetes, MODY 1 does not usually require insulin therapy initially, and patients may be managed with oral hypoglycemic agents.
Diagnosis[edit]
The diagnosis of MODY 1 is confirmed through genetic testing, which identifies mutations in the HNF4A gene. Family history is also an important factor, as MODY 1 follows an autosomal dominant pattern, meaning that a single copy of the mutated gene can cause the disorder.
Management[edit]
Management of MODY 1 involves lifestyle modifications, such as diet and exercise, and the use of oral hypoglycemic agents like sulfonylureas. In some cases, insulin therapy may be required as the disease progresses.
