A Family Guide to Non-Oncologic Blood Disorders
Kostmann’s Syndrome
What is Kostmann’s syndrome? Kostmann’s syndrome, also known as severe congenital neutropenia (SCN), is a rare autosomal recessive disorder. The disorder is inherited when two copies of an abnormal gene are present. The disease results in a low number of neutro- phils, white blood cells that help fight infection. In Kostmann’s syndrome, the absolute neutrophil count (ANC) is typically less than 200/µL, resulting in increased risk of bacterial infections. Kostmann’s syndrome also predisposes patients to the devel- opment of myelodysplastic syndrome (MDS) and leukemia. The most common leukemia in SCN is acute myeloid leukemia (AML). Symptoms of Kostmann’s syndrome typically develop within the first year of life after an initial infection. The following are the most common symptoms of Kostmann’s syndrome. However, each child may experience symptoms differently. Symptoms may include: • Omphalitis (infection of umbilical cord stump) • Mouth sores, gum swelling • Sinus infection, ear infection • Urinary tract infection • Skin infections • Bone pain or fractures • Fever • Irritability • Enlarged spleen • Sepsis (infection of the blood) How is Kostmann’s syndrome diagnosed? A diagnosis of Kostmann’s syndrome is usually made during the first year of life based on the following: • Complete medical history and family history • Physical examination • Specific blood tests or scans What tests and procedures will my child need? • Bone marrow aspiration or biopsy to assess bone mar- row make-up and look for diseases or leukemia • Imaging: performed only as needed to evaluate an infection • Blood work: a complete blood count to determine the decreased number of neutrophils
How is Kostmann’s syndrome treated? • Immediate referral to a pediatric immunologist and hematologist • Basic precautions o avoid large crowds, dirty environments, and sick people o strict handwashing o antibiotics, antifungal, and antiviral medi- cations to treat any active infections • Granulocyte colony stimulating factor (GCSF), a medica- tion given to stimulate neutrophil production • Hematopoietic stem cell transplant (HSCT), the only curative option Your medical team will determine the best treatment plan for your child. How successful is the treatment? GCSF temporarily can keep children healthy, but ultimately almost all Kostmann’s syndrome patients, especially those with MDS and AML, require HSCT. Transplants done using the bone marrow of a sibling provide the best chance for success. For children who do not have fam- ily members who are suitable donors, doctors may use stem cells from an unrelated donor or cord blood. Stem Cell Transplant Indications HSCT provides Kostmann’s syndrome patients with a function- ing immune system that is capable of protecting them from infections. It is a cure for the disease and is highly effective in the majority of patients.
Kostmann’s Syndrome
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