A Family Guide to Non-Oncologic Blood Disorders
Shwachman-Diamond Syndrome
What is shwachman-diamond syndrome? Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that generally presents in infancy with pancreatic insufficiency. This occurs when there are not enough pancreat- ic hormones or enzymes produced or secreted. The pancreas is an organ in the abdomen located behind the stomach. The pancreas produces enzymes that help to digest proteins, fats, and carbohydrates as well as produces insulin and regulates blood sugar. As a result of the lack of enzymes, patients are not able to digest their food as easily and often have fatty, foul smelling stools. Patients also may present with bone marrow failure, which occurs when there is an insufficient amount of red blood cells, white blood cells, and platelets in the body. The mutation that causes SDS is identified in 90% of affected children and can occur in all races and ethnic groups. Affected children are born with one affected gene from each parent (autosomal recessive). What are some symptoms of SDS? Symptoms often are nonspecific and may lead to a delay in diagnosis. The following are the most common symptoms of SDS. However, each child may experience symptoms differently. Symptoms may include: • Diarrhea with fatty, foul-smelling stools (pancreas dysfunction) • Poor growth and broken bones (due to bone abnormalities) • Recurrent or frequent infections • Profuse bleeding due to low platelets (thrombocytopenia) • Feeling tired and pale skin due to low red blood cells/ hemoglobin (anemia) • Enlarged liver and elevated liver blood tests How is SDS diagnosed? • Complete medical and family history • Physical exam, specifically looking for characteristic
What tests and procedures will my child need? Blood work • Complete blood count (CBC) to measure your child’s red blood cells, white blood cells, and platelets • Pancreas enzyme levels to determine if there are ade- quate numbers (trypsinogen and pancreatic isoamylase) • Vitamin levels (A, D, E, K specifically) • Liver enzyme levels • Immune specific blood tests (immunoglobulins, T&B cell subsets & function) • Genetic testing may be performed. Bone marrow evaluations • Marrow aspiration (a small sample of the liquid part in center of large bones) to help determine why your child’s bone marrow may not be making the cells it should • Bone marrow biopsy (a small sample of the bone mar- row in center of large bones) Stool evaluations • 72-hour collection of stool to assess for fat • Stool sample is taken to check for possible infection. • Bone evaluation: skeletal survey (an X-ray of several bones in the body; determines bone involvement of disease) How is SDS treated? Stem cell transplantation (SCT) is the only cure for the disease. Below are treatment options to alleviate some of the symp- toms of SDS: Pancreas dysfunction: » » Supplement any vitamin deficiencies » » Oral pancreatic enzymes to help with digestion of meals » » Monitoring of stools to assess fat absorption • Blood cell dysfunction (cytopenias): » » Monitor CBC as determined by your child’s medical team. Your child may require blood transfusions if red blood cells are too low. Your child also may re- quire a platelet transfusion if platelets are too low.
findings (e.g., bony abnormalities) • Blood work including genetic tests
Shwachman-Diamond Syndrome
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