Severe congenital neutropenia: Difference between revisions
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{{Infobox medical condition | |||
| name = Severe congenital neutropenia | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Severe congenital neutropenia is often inherited in an [[autosomal dominant]] pattern. | |||
| field = [[Hematology]] | |||
| synonyms = Kostmann syndrome | |||
| symptoms = [[Neutropenia]], recurrent [[bacterial infections]], [[fever]], [[malaise]] | |||
| complications = [[Sepsis]], [[pneumonia]], [[osteomyelitis]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Complete blood count]], [[genetic testing]] | |||
| differential = [[Cyclic neutropenia]], [[Shwachman-Diamond syndrome]], [[Chédiak-Higashi syndrome]] | |||
| treatment = [[Granulocyte colony-stimulating factor]] (G-CSF), [[antibiotics]] | |||
| medication = G-CSF | |||
| prognosis = Variable, improved with treatment | |||
| frequency = Rare | |||
}} | |||
'''Severe congenital neutropenia''' (SCN) is a rare and severe form of [[neutropenia]] that is present from birth. It is characterized by a significant reduction in the number of [[neutrophils]], a type of white blood cell that plays a crucial role in the body's immune response. SCN is associated with an increased risk of recurrent infections, particularly bacterial infections, and a predisposition to the development of [[leukemia]]. | '''Severe congenital neutropenia''' (SCN) is a rare and severe form of [[neutropenia]] that is present from birth. It is characterized by a significant reduction in the number of [[neutrophils]], a type of white blood cell that plays a crucial role in the body's immune response. SCN is associated with an increased risk of recurrent infections, particularly bacterial infections, and a predisposition to the development of [[leukemia]]. | ||
[[Image:Autosomal recessive - en.svg|thumb|left|Kostmann disease, which is SCN3, is inherited in an autosomal recessive pattern.]] | |||
[[Image:Autosomal recessive - en.svg|thumb| | |||
== Causes == | == Causes == | ||
SCN is typically caused by mutations in the [[ELANE]] gene, which provides instructions for making a protein called neutrophil elastase. This protein is involved in the maturation of neutrophils. Mutations in the ELANE gene disrupt the normal development of neutrophils, leading to the characteristic features of SCN. | SCN is typically caused by mutations in the [[ELANE]] gene, which provides instructions for making a protein called neutrophil elastase. This protein is involved in the maturation of neutrophils. Mutations in the ELANE gene disrupt the normal development of neutrophils, leading to the characteristic features of SCN. | ||
Other genes associated with SCN include [[HAX1]], [[G6PC3]], [[GFI1]], and [[WAS]]. Mutations in these genes can also disrupt neutrophil development and function, leading to SCN. | Other genes associated with SCN include [[HAX1]], [[G6PC3]], [[GFI1]], and [[WAS]]. Mutations in these genes can also disrupt neutrophil development and function, leading to SCN. | ||
== Symptoms == | == Symptoms == | ||
The primary symptom of SCN is an increased susceptibility to infections, particularly bacterial infections. These infections can be severe and recurrent, and can affect various parts of the body, including the skin, lungs, and gastrointestinal tract. | The primary symptom of SCN is an increased susceptibility to infections, particularly bacterial infections. These infections can be severe and recurrent, and can affect various parts of the body, including the skin, lungs, and gastrointestinal tract. | ||
Other symptoms of SCN can include [[anemia]], [[thrombocytopenia]], and an enlarged [[spleen]]. | Other symptoms of SCN can include [[anemia]], [[thrombocytopenia]], and an enlarged [[spleen]]. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of SCN is based on a complete blood count (CBC) showing a persistent neutropenia, along with a history of recurrent infections. Genetic testing can confirm the diagnosis by identifying mutations in the ELANE gene or other genes associated with SCN. | The diagnosis of SCN is based on a complete blood count (CBC) showing a persistent neutropenia, along with a history of recurrent infections. Genetic testing can confirm the diagnosis by identifying mutations in the ELANE gene or other genes associated with SCN. | ||
== Treatment == | == Treatment == | ||
The treatment of SCN typically involves the use of [[granulocyte colony-stimulating factor]] (G-CSF), a medication that stimulates the production of neutrophils. In some cases, a [[bone marrow transplant]] may be necessary. | The treatment of SCN typically involves the use of [[granulocyte colony-stimulating factor]] (G-CSF), a medication that stimulates the production of neutrophils. In some cases, a [[bone marrow transplant]] may be necessary. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with SCN varies. With appropriate treatment, many individuals with SCN can lead normal lives. However, SCN is associated with an increased risk of developing leukemia, which can affect the prognosis. | The prognosis for individuals with SCN varies. With appropriate treatment, many individuals with SCN can lead normal lives. However, SCN is associated with an increased risk of developing leukemia, which can affect the prognosis. | ||
== See also == | == See also == | ||
* [[Neutropenia]] | * [[Neutropenia]] | ||
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* [[Granulocyte colony-stimulating factor]] | * [[Granulocyte colony-stimulating factor]] | ||
* [[Bone marrow transplant]] | * [[Bone marrow transplant]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 06:26, 6 April 2025
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| Severe congenital neutropenia | |
|---|---|
| |
| Synonyms | Kostmann syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Neutropenia, recurrent bacterial infections, fever, malaise |
| Complications | Sepsis, pneumonia, osteomyelitis |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Complete blood count, genetic testing |
| Differential diagnosis | Cyclic neutropenia, Shwachman-Diamond syndrome, Chédiak-Higashi syndrome |
| Prevention | N/A |
| Treatment | Granulocyte colony-stimulating factor (G-CSF), antibiotics |
| Medication | G-CSF |
| Prognosis | Variable, improved with treatment |
| Frequency | Rare |
| Deaths | N/A |
Severe congenital neutropenia (SCN) is a rare and severe form of neutropenia that is present from birth. It is characterized by a significant reduction in the number of neutrophils, a type of white blood cell that plays a crucial role in the body's immune response. SCN is associated with an increased risk of recurrent infections, particularly bacterial infections, and a predisposition to the development of leukemia.
Causes[edit]
SCN is typically caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. This protein is involved in the maturation of neutrophils. Mutations in the ELANE gene disrupt the normal development of neutrophils, leading to the characteristic features of SCN. Other genes associated with SCN include HAX1, G6PC3, GFI1, and WAS. Mutations in these genes can also disrupt neutrophil development and function, leading to SCN.
Symptoms[edit]
The primary symptom of SCN is an increased susceptibility to infections, particularly bacterial infections. These infections can be severe and recurrent, and can affect various parts of the body, including the skin, lungs, and gastrointestinal tract. Other symptoms of SCN can include anemia, thrombocytopenia, and an enlarged spleen.
Diagnosis[edit]
The diagnosis of SCN is based on a complete blood count (CBC) showing a persistent neutropenia, along with a history of recurrent infections. Genetic testing can confirm the diagnosis by identifying mutations in the ELANE gene or other genes associated with SCN.
Treatment[edit]
The treatment of SCN typically involves the use of granulocyte colony-stimulating factor (G-CSF), a medication that stimulates the production of neutrophils. In some cases, a bone marrow transplant may be necessary.
Prognosis[edit]
The prognosis for individuals with SCN varies. With appropriate treatment, many individuals with SCN can lead normal lives. However, SCN is associated with an increased risk of developing leukemia, which can affect the prognosis.
See also[edit]
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| Hematologic disease: Monocyte and granulocyte disease (CFU-GM/CFU-Baso/CFU-Eos), including immunodeficiency (D70-D71, 288) | ||||||||||||
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