Permanent neonatal diabetes: Difference between revisions
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{{Infobox medical condition | |||
| name = Permanent neonatal diabetes | |||
| synonyms = PNDM | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hyperglycemia]], [[failure to thrive]], [[dehydration]], [[ketoacidosis]] | |||
| onset = Within the first 6 months of life | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]]s in [[KCNJ11]], [[ABCC8]], [[INS]] | |||
| risks = Family history of [[diabetes mellitus]] | |||
| diagnosis = [[Genetic testing]], [[blood glucose]] levels | |||
| differential = [[Type 1 diabetes]], [[transient neonatal diabetes mellitus]] | |||
| treatment = [[Insulin therapy]], [[sulfonylureas]] | |||
| prognosis = Variable, depends on genetic mutation and treatment | |||
| frequency = Rare, approximately 1 in 300,000 to 1 in 400,000 live births | |||
}} | |||
'''Permanent Neonatal Diabetes Mellitus''' (PNDM) is a rare form of [[diabetes]] that is diagnosed within the first six months of life and persists throughout life. It is characterized by high blood sugar levels that are present from birth and require insulin treatment. | '''Permanent Neonatal Diabetes Mellitus''' (PNDM) is a rare form of [[diabetes]] that is diagnosed within the first six months of life and persists throughout life. It is characterized by high blood sugar levels that are present from birth and require insulin treatment. | ||
==Etiology== | ==Etiology== | ||
PNDM is caused by mutations in several genes, including the [[KCNJ11]], [[ABCC8]], and [[INS]] genes. These genes are involved in the regulation of insulin, a hormone that controls blood sugar levels. Mutations in these genes disrupt the normal function of insulin, leading to high blood sugar levels. | PNDM is caused by mutations in several genes, including the [[KCNJ11]], [[ABCC8]], and [[INS]] genes. These genes are involved in the regulation of insulin, a hormone that controls blood sugar levels. Mutations in these genes disrupt the normal function of insulin, leading to high blood sugar levels. | ||
==Symptoms== | ==Symptoms== | ||
The main symptom of PNDM is persistently high blood sugar levels from birth. Other symptoms can include failure to thrive, dehydration, and frequent urination. | The main symptom of PNDM is persistently high blood sugar levels from birth. Other symptoms can include failure to thrive, dehydration, and frequent urination. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of PNDM is based on the presence of high blood sugar levels within the first six months of life that do not resolve. Genetic testing can confirm the diagnosis. | Diagnosis of PNDM is based on the presence of high blood sugar levels within the first six months of life that do not resolve. Genetic testing can confirm the diagnosis. | ||
==Treatment== | ==Treatment== | ||
Treatment for PNDM involves lifelong insulin therapy to control blood sugar levels. In some cases, oral medications may be used instead of insulin. | Treatment for PNDM involves lifelong insulin therapy to control blood sugar levels. In some cases, oral medications may be used instead of insulin. | ||
==Prognosis== | ==Prognosis== | ||
With proper treatment, individuals with PNDM can lead normal lives. However, they must carefully manage their blood sugar levels to prevent complications. | With proper treatment, individuals with PNDM can lead normal lives. However, they must carefully manage their blood sugar levels to prevent complications. | ||
==See also== | ==See also== | ||
* [[Diabetes mellitus]] | * [[Diabetes mellitus]] | ||
* [[Neonatal diabetes]] | * [[Neonatal diabetes]] | ||
* [[Insulin]] | * [[Insulin]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | |||
Latest revision as of 00:19, 4 April 2025
| Permanent neonatal diabetes | |
|---|---|
| Synonyms | PNDM |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperglycemia, failure to thrive, dehydration, ketoacidosis |
| Complications | N/A |
| Onset | Within the first 6 months of life |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in KCNJ11, ABCC8, INS |
| Risks | Family history of diabetes mellitus |
| Diagnosis | Genetic testing, blood glucose levels |
| Differential diagnosis | Type 1 diabetes, transient neonatal diabetes mellitus |
| Prevention | N/A |
| Treatment | Insulin therapy, sulfonylureas |
| Medication | N/A |
| Prognosis | Variable, depends on genetic mutation and treatment |
| Frequency | Rare, approximately 1 in 300,000 to 1 in 400,000 live births |
| Deaths | N/A |
Permanent Neonatal Diabetes Mellitus (PNDM) is a rare form of diabetes that is diagnosed within the first six months of life and persists throughout life. It is characterized by high blood sugar levels that are present from birth and require insulin treatment.
Etiology[edit]
PNDM is caused by mutations in several genes, including the KCNJ11, ABCC8, and INS genes. These genes are involved in the regulation of insulin, a hormone that controls blood sugar levels. Mutations in these genes disrupt the normal function of insulin, leading to high blood sugar levels.
Symptoms[edit]
The main symptom of PNDM is persistently high blood sugar levels from birth. Other symptoms can include failure to thrive, dehydration, and frequent urination.
Diagnosis[edit]
Diagnosis of PNDM is based on the presence of high blood sugar levels within the first six months of life that do not resolve. Genetic testing can confirm the diagnosis.
Treatment[edit]
Treatment for PNDM involves lifelong insulin therapy to control blood sugar levels. In some cases, oral medications may be used instead of insulin.
Prognosis[edit]
With proper treatment, individuals with PNDM can lead normal lives. However, they must carefully manage their blood sugar levels to prevent complications.
