Myers K, Bolyard AA, Otto B, Dobbins N, Jones A, Wong T, Harris R, Davies S, Dale D, and Shimamura A. Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman Diamond Syndrome Registry. J Pediatr 2014 Apr;164(4):866-70 http://www.ncbi.nlm.nih.gov/pubmed/24388329
A recent study through the North-American Shwachman-Diamond Syndrome Registry reports that as many as half of patients with SDS may initially lack the classic symptoms of neutropenia, diarrhea or poor growth/failure to thrive. Siblings of patients with Shwachman-Diamond syndrome may have SDS even if they lack apparent symptoms,.Genetic testing of siblings in families of patients with Shwachman-Diamond syndrome is therefore essential regardless of symptoms. Timely diagnosis prior to the development of complications is critical for the best medical management and outcomes, particularly in the case of bone marrow failure, leukemia, or bone marrow transplantation. Diagnostic screening is especially important to ensure that affected siblings are not inadvertently selected as donors for bone marrow transplantation. Ryan TD1, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K. Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer. 2015 Mar 2. doi: 10.1002/pbc.25456. http://www.ncbi.nlm.nih.gov/pubmed/25732529
Using a new method of looking at heart function called “cardiac strain” to re-evaluate echocardiograms previously reported as normal, approximately one third of patients with Shwachman-Diamond syndrome were found to have changes in heart function not detected on standard testing, which may put them at risk for future problems with heart function. Cardiac evaluation should be considered in patients with SDS, regardless of whether they will undergo HSCT. Further studies are needed to better understand the incidence of cardiac dysfunction in SDS, and the potential risk of progression to symptomatic heart failure with medical interventions and age. Ongoing Research
Testing new medicines for SDS Drug screens to discover new therapeutic strategies Gene discovery for diagnosis and therapy Collaborative studies across institutions Identifying the complications of SDS and their treatments Curing SDS Gene discovery: While mutations in the SBDS gene are found in the majority of SDS patients, a subset of patients remain as yet genetically undefined. The Registry is hard at work to identify additional genes that cause SDS, but we need additional families, clinical records, and samples to succeed.