Kostmann's Syndrome
Other names of Kostmann’s Syndrome
Kostmann disease
Severe congenital neutropenia
SCN
Infantile genetic agranulocytosis
Causes of Kostmann’s Syndrome
Kostmann’s syndrome is caused by an inherited genetic mutation (on chromosome 1) that is passed down from parents to their children. Both parents are needed to have the gene abnormality (autosomal recessive inheritance).
Symptoms of Kostmann’s Syndrome
Frequent bacterial infections of the lungs, liver, sinuses, gums or skin are common with Kostmann’s syndrome. Over time, many with the disease can develop osteoporosis, leukemia or other disorders related to the bone marrow.
Diagnosis of Kostmann’s Syndrome
An absolute neutrophil count (ANC) chronically less than 500/mm3, usually less than 200/mm3, is the main sign of Kostmann’s.
Other elements include the severity of neutropenia, the chronology (from birth; not emerging later), and other normal findings (hemoglobin, platelets, general body health).
Isolated neutropenia in infants can occur in viral infections, autoimmune neutropenia of infancy, bone marrow suppression from a drug or toxin, hypersplenism, and passive placental transfer of maternal IgG.
A bone marrow test can assist in diagnosis.
The bone marrow usually shows early granulocyte precursors, but myelopoietic development stops (
arrests) at the promyelocyte and/or myelocyte stage, so that few maturing forms are seen. Neutrophil survival is normal
Treatment of Kostmann’s Syndrome
While there is no cure at present for SCN, there are medications available which can increase the blood white cell number and help to treat the infections
Regular administration of exogenous granulocyte colony-stimulating factor (filgrastim) clinically improves neutrophil counts and immune function and is the mainstay of therapy, although this may increase risk for myelofibrosis and acute myeloid leukemia in the long term