Idiopathic neutropenia - Not a rare disease

Other Names: Nonimmune chronic idiopathic neutropenia of adults; NI-CINA

Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection.

Symptoms

Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections.

Diagnosis

CBP- a complete blood test is required to check the number of neutrophils circulating in the blood. A low number of neutrophils indicate neutropenia. Your doctor will need to take blood tests often to check your child’s white blood cell count. The blood for this test can be taken using a finger prick. Bone Marrow Biopsy –a sample of bone marrow is taken and looked at under the microscope to help determine the cause of neutropenia. See section 4 of your folder for further information.

Treatment

Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.

NIH genetic and rare disease info

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