Medical Services

Congenital neutropenia is a collection of rare genetic illnesses characterised by insufficient production of neutrophils, a vital kind of white blood cell that fights bacterial and fungal infections. It can appear in infancy or early childhood, although the severity varies among affected individuals.

Children with congenital neutropenia may have repeated infections of the skin, mouth, ears, lungs, or blood. There may be fever, oral ulcers, gingivitis, sore throat, and poor wound healing, especially when neutrophil numbers are very low. Regular medical checks are vital, as some children can have infections without many obvious symptoms. The specialist should evaluate blood counts, growth, infections, etc.

Diagnosis is usually confirmed by repeated complete blood counts to rule out chronic neutropenia. Studies of bone marrow, genetic testing, and analysis of family history may help identify the underlying inherited problem and distinguish it from acquired causes.

Treatment varies based on the severity and the unique genetic condition. Granulocyte colony-stimulating factor (G-CSF) is often used to promote neutrophil production and lower the risk of infection. Serious infections may need to be treated or prevented using antibiotics. Supportive interventions include proper dental hygiene, a thorough examination of any fever, and necessary vaccines.

In extreme situations, especially with problems or aberrant alterations in the bone marrow, haematopoietic stem cell transplantation may be explored. A specialist should conduct long-term follow-up to assess blood counts, growth, infections, and treatment-related issues. A specialist should conduct long-term follow-up to assess blood counts, growth, infections, and treatment-related issues. to evaluate blood counts, growth, infections and treatment-related problems.