Kostmann's syndrome
Kostmann's syndrome is a disease caused by genetic abnormalities in newborns. Babies born with Kostmann's syndrome have a granulocyte or neutrophil deficiency, which is a type of white blood cell that plays an important role in fighting infection.
Although it can survive fungal and viral infections, babies with Kostmann's syndrome are at risk of experiencing a condition called myelodisplasia syndrome (MDS). MDS is a condition when bone marrow produces imperfect blood cells. This condition can develop quickly or slowly. In some people, MDS can turn into acute myeloblastic leukemia or AML, which is a type of blood cancer that starts in myeloid cells (part of white blood cells).
Kostmann's syndrome is also called severe congenital neutropenia or genetic infantile agranulocytosis. This condition is rare, and is estimated to only occur in 1 in 200,000 people.
Symptoms of Kostmann's Syndrome
Symptoms that occur in patients with Kostmann's syndrome vary, including:
Causes of Kostmann's Syndrome
Kostmann's syndrome is caused by mutations in the neutrophil function regulator gene. Neutrophils are cells produced by the bone marrow, and function against infection and maintain the immune system. Mutations in these genes will cause impaired neutrophil function, or make neutrophils die faster.
About 50% of cases of Kostmann's syndrome are caused by mutations in the ELANE gene, and another 10% are caused by mutations in the HAX1 gene. The rest, it is not known with certainty what causes Kostmann's syndrome.
Diagnosis of Kostmann's Syndrome
To get a diagnosis of Kostmann's syndrome, the doctor will take a sample of the patient's blood. The blood sample will then be examined with an absolute neutrophil count (ANC) test. Through these tests, doctors can measure levels of neutrophils in the blood. In patients with Kostmann's syndrome, neutrophil levels are below 500 / mm3.
Treatment of Kostmann's Syndrome
Treatment of Kostmann's syndrome depends on its severity, which includes:
Complications of Kostmann's Syndrome
Kostmann's syndrome can lead to complications, such as osteoporosis or bone loss. Osteoporosis is estimated to affect 50% of people with Kostmann's syndrome.
Other complications that can be experienced by sufferers of this disease are myelodisplasia syndrome and acute myeloblastic leukemia. These two conditions occur in 21% of people with Kostmann's syndrome who underwent G-CSF therapy for 10 years.
Kostmann's syndrome is also called severe congenital neutropenia or genetic infantile agranulocytosis. This condition is rare, and is estimated to only occur in 1 in 200,000 people.
Symptoms of Kostmann's Syndrome
Symptoms that occur in patients with Kostmann's syndrome vary, including:
- Thrush or inflammation of the gums (gingivitis).
- An abscess or an abscess in the anus (rectum), lungs, or liver.
- Infection of the throat (pharyngitis), sinus (sinusitis), respiratory tract (bronchitis), lungs (pneumonia), navel (omphalitis), urinary tract, or lining of the abdominal cavity (peritonitis).
- Enlarged lymph nodes (lymphadenopathy) or enlarged spleen (splenomegaly).
- Diarrhea accompanied by vomiting.
- Pain or broken bones.
Causes of Kostmann's Syndrome
Kostmann's syndrome is caused by mutations in the neutrophil function regulator gene. Neutrophils are cells produced by the bone marrow, and function against infection and maintain the immune system. Mutations in these genes will cause impaired neutrophil function, or make neutrophils die faster.
About 50% of cases of Kostmann's syndrome are caused by mutations in the ELANE gene, and another 10% are caused by mutations in the HAX1 gene. The rest, it is not known with certainty what causes Kostmann's syndrome.
Diagnosis of Kostmann's Syndrome
To get a diagnosis of Kostmann's syndrome, the doctor will take a sample of the patient's blood. The blood sample will then be examined with an absolute neutrophil count (ANC) test. Through these tests, doctors can measure levels of neutrophils in the blood. In patients with Kostmann's syndrome, neutrophil levels are below 500 / mm3.
Treatment of Kostmann's Syndrome
Treatment of Kostmann's syndrome depends on its severity, which includes:
- Giving antibiotics. Antibiotics are useful for preventing infections in the mouth and gums (gingivostomatitis) that often occur in patients with Kostmann's syndrome. Types of drugs used include cotrimoxazole and metronidazole.
- Granulocyte colony-stimulating factor (G-CSF) injection. This method aims to stimulate the bone marrow to produce more white blood cells. There are 2 types of G-CSF drugs, namely pegfilgrastim and lenograstim. Please note that this type of drug can cause short-term side effects, such as flu and bone pain. Whereas in the long run, G-CSF can cause thrombocytopenia (platelet deficiency). However, side effects will disappear after the dose of G-CSF is reduced.
- Bone marrow transplantation. Bone marrow transplantation can be done autologously (using patient cells), or allogeneic (using donor cells). Stem cells used in transplants can be taken from the bone marrow, the placenta, or peripheral blood. Bone marrow transplantation is the only treatment method in patients who are still experiencing severe infections, despite undergoing G-CSF therapy.
Complications of Kostmann's Syndrome
Kostmann's syndrome can lead to complications, such as osteoporosis or bone loss. Osteoporosis is estimated to affect 50% of people with Kostmann's syndrome.
Other complications that can be experienced by sufferers of this disease are myelodisplasia syndrome and acute myeloblastic leukemia. These two conditions occur in 21% of people with Kostmann's syndrome who underwent G-CSF therapy for 10 years.
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