Causes and risk factors
Kostmann’s disease is an inherited disease. The patients with neutropenia are attacked by bacteria which are normally present in the body such as mouth, GIT, etc., most common organisms are Staphylococcus aureus and other gram-negative organisms.
Clinical presentation
Patient presents with infections in the mouth, pharynx, GIT, and skin. An important feature of this disorder is lack of pus formation and GIT complaints like pain in the abdomen and diarrhea. There can occur inflammation of bowel [mimics IBD]. Patient presents with oral ulcer and tooth decay. There is painful gingivitis with papules on the cheek and tongue. Perirectal inflammation may occur. Cellulitis may occur. In severe cases abscesses, pneumonia, or septicemia can also occur. Complications like increased risk of premature deliveries and leukemia is seen. Mutation in genes can lead to neurogenic, dermatological symptoms.
Investigation
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Absolute neutrophil count is estimated [< 200/µL is diagnostic]. Bone marrow examination may be recommended.
Treatment
Treatment involves regular administration of exogenous granulocyte colony-stimulating factor. Antimicrobial prophylaxis is required to prevent recurrent infections.
