TY - JOUR
T1 - Variable clinical presentation of shwachman-diamond syndrome
T2 - Update from the North American shwachman-diamond syndrome registry
AU - Myers, Kasiani C.
AU - Bolyard, Audrey Anna
AU - Otto, Barbara
AU - Wong, Trisha E.
AU - Jones, Amanda T.
AU - Harris, Richard E.
AU - Davies, Stella M.
AU - Dale, David C.
AU - Shimamura, Akiko
N1 - Funding Information:
Supported by the National Institute of Allergy and Infectious Diseases ( NIAID; 1 R03 AI079734-02 to A.S.), National Heart, Lung, and Blood Institute ( 5 R01 HL079582-11 to A.S.), NIAID ( 5 R24 AI049363-09 to D.D.), Shwachman–Diamond Project Ltd, Shwachman–Diamond Syndrome Foundation, Shwachman–Diamond Syndrome America, The Butterfly Guild at Seattle Children's Hospital, and family donors. The authors declare no conflicts of interest.
PY - 2014/4
Y1 - 2014/4
N2 - Objectives To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. Study design We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic Shwachman-Bodian-Diamond syndrome mutations confirming the diagnosis of SDS were available for 37 patients. Results Neutropenia was the most common hematologic abnormality at presentation (30/37, 81%); however, only 51% (19/37) of patients presented with the classic combination of neutropenia and steatorrhea. Absence of pancreatic lipomatosis on ultrasound or computed tomography scan, normal fecal elastase levels, and normal skeletal survey do not rule out the diagnosis of SDS. SDS was diagnosed in 2 asymptomatic siblings of SDS probands. Twenty-four of 37 patients (65%) had congenital anomalies. Conclusion Our cohort reveals a broad range of clinical presentation for SDS. Clues to the underlying diagnosis of SDS included cytopenias with a hypocellular marrow, congenital anomalies, family history, and myelodysplasia with clonal abnormalities frequently found in SDS. Reliance on classic clinical criteria for SDS would miss or delay diagnosis of a significant subset of patients with SDS.
AB - Objectives To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. Study design We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic Shwachman-Bodian-Diamond syndrome mutations confirming the diagnosis of SDS were available for 37 patients. Results Neutropenia was the most common hematologic abnormality at presentation (30/37, 81%); however, only 51% (19/37) of patients presented with the classic combination of neutropenia and steatorrhea. Absence of pancreatic lipomatosis on ultrasound or computed tomography scan, normal fecal elastase levels, and normal skeletal survey do not rule out the diagnosis of SDS. SDS was diagnosed in 2 asymptomatic siblings of SDS probands. Twenty-four of 37 patients (65%) had congenital anomalies. Conclusion Our cohort reveals a broad range of clinical presentation for SDS. Clues to the underlying diagnosis of SDS included cytopenias with a hypocellular marrow, congenital anomalies, family history, and myelodysplasia with clonal abnormalities frequently found in SDS. Reliance on classic clinical criteria for SDS would miss or delay diagnosis of a significant subset of patients with SDS.
UR - http://www.scopus.com/inward/record.url?scp=84896542431&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84896542431&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2013.11.039
DO - 10.1016/j.jpeds.2013.11.039
M3 - Article
C2 - 24388329
AN - SCOPUS:84896542431
SN - 0022-3476
VL - 164
SP - 866
EP - 870
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 4
ER -