Congenital agranulocytosis Save

Congenital Agranulocytosis: Causes and Symptoms

Congenital agranulocytosis, also known as Kostmann syndrome, is a rare genetic disorder that affects the immune system. It is characterized by a severe deficiency of neutrophils, a type of white blood cell that helps fight off infections. This condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Symptoms of congenital agranulocytosis usually appear within the first few weeks of life. They may include:

1. Recurrent infections, such as pneumonia, ear infections, and skin infections
2. Fever
3. Mouth sores
4. Swollen lymph nodes
5. Difficulty gaining weight

Congenital agranulocytosis is caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. This protein is essential for the development and maturation of neutrophils. Mutations in the ELANE gene can lead to a shortage or malfunction of neutrophils, which makes individuals with congenital agranulocytosis more susceptible to infections.

Diagnosis of congenital agranulocytosis is often based on a combination of clinical findings and laboratory tests. A complete blood count (CBC) may reveal a low white blood cell count, and a bone marrow biopsy may show a lack of mature neutrophils. Genetic testing can confirm the diagnosis.

Congenital agranulocytosis is a lifelong condition that requires careful management to prevent infections and other complications. Treatment usually involves antibiotics to treat and prevent infections, as well as growth factors to stimulate the production of neutrophils. Bone marrow transplantation may be considered in severe cases.

In summary, congenital agranulocytosis is a rare genetic disorder that affects the immune system. Symptoms usually appear within the first few weeks of life and may include recurrent infections, fever, mouth sores, swollen lymph nodes, and difficulty gaining weight. This condition is caused by mutations in the ELANE gene, which leads to a severe deficiency of neutrophils. Diagnosis is based on clinical findings and laboratory tests, and treatment involves antibiotics and growth factors to prevent infections and stimulate neutrophil production.