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Diseases

Genetic and Rare Diseases Information Center (GARD)

Shwachman-Diamond syndrome


Other Names for this Disease
  • Congenital lipomatosis of pancreas
  • Lipomatosis of pancreas, congenital
  • Pancreatic insufficiency and bone marrow dysfunction
  • SDS
  • Shwachman syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Shwachman-Diamond syndrome be treated?

There is no cure for Shwachman-Diamond syndrome (SDS). The treatment is directed to the symptoms or signals that the patient has. It is important to have several specialists taking care of the patients, like hematologists, gastroenterologists, geneticists, orthopedics, endocrinologists, immunologists or others, as needed. The treatment may include:[1][2]

Oral pancreatic enzyme replacement with meals in those who are pancreatic insufficient.
• Supplementation with fat-soluble vitamins (A, D, E, and K) and a low fat diet.
• Blood and/or platelet transfusions may be done if the patient is anemic or have low white cell counts in the blood. • Antibiotics and granulocyte-colony stimulation factor (G-CSF) if there are infections and the white cell blood count are low (500/mm3 or less).
Hematopoietic stem cell transplantation (HSCT), which are cells that are isolated from the blood or bone marrow and can renew themselves, in cases of severe pancytopenia (low of all blood cells), myelodysplastic syndrome, or acute myelogenous leukemia (AML).
• Use of medicines to treat cancer (chemotherapy) before doing the HSCT when the patient have acute myelogenous leukemia.
Growth hormone has been used to treat children with Shwachman-Diamond syndrome who have growth hormone deficiency.

Bone marrow abnormalities are not treated unless there is severe aplasia or myelodysplastic changes, or AML. Some children who have bone abnormalities may need surgery if they have respiratory problems (rib problems resulting in asphyxiating thoracic dystrophy), asymmetric growth or joint problems. It is recommended to have consultation with an endocrinologist if the child is having poor growth and delayed puberty, as well as frequent visits to the dentist to reduce the chances of having mouth wounds (ulcers) and gingivitis.[1]
Last updated: 6/23/2015

References
  1. Myers K. Shwachman-Diamond Syndrome. GeneReviews. September 11, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1756/. Accessed 6/23/2015.
  2. Spoto-Cannons AC, Keshishian JM, Kumar M. Shwachman-Diamond Syndrome. Medscape Reference. May 1, 2014; http://emedicine.medscape.com/article/958476-overview. Accessed 6/23/2015.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Shwachman-Diamond syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Congenital lipomatosis of pancreas
  • Lipomatosis of pancreas, congenital
  • Pancreatic insufficiency and bone marrow dysfunction
  • SDS
  • Shwachman syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.