Variable clinical presentation of shwachman-diamond syndrome: Update from the North American shwachman-diamond syndrome registry

Kasiani C. Myers, Audrey Anna Bolyard, Barbara Otto, Trisha Wong, Amanda T. Jones, Richard E. Harris, Stella M. Davies, David C. Dale, Akiko Shimamura

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)866-870
Number of pages5
JournalJournal of Pediatrics
Volume164
Issue number4
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Registries
Neutropenia
Shwachman syndrome
Lipomatosis
Steatorrhea
Pancreatic Elastase
Siblings
Bone Marrow
Tomography
Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Variable clinical presentation of shwachman-diamond syndrome : Update from the North American shwachman-diamond syndrome registry. / Myers, Kasiani C.; Bolyard, Audrey Anna; Otto, Barbara; Wong, Trisha; Jones, Amanda T.; Harris, Richard E.; Davies, Stella M.; Dale, David C.; Shimamura, Akiko.

In: Journal of Pediatrics, Vol. 164, No. 4, 2014, p. 866-870.

Research output: Contribution to journalArticle

Myers, KC, Bolyard, AA, Otto, B, Wong, T, Jones, AT, Harris, RE, Davies, SM, Dale, DC & Shimamura, A 2014, 'Variable clinical presentation of shwachman-diamond syndrome: Update from the North American shwachman-diamond syndrome registry', Journal of Pediatrics, vol. 164, no. 4, pp. 866-870. https://doi.org/10.1016/j.jpeds.2013.11.039
Myers, Kasiani C. ; Bolyard, Audrey Anna ; Otto, Barbara ; Wong, Trisha ; Jones, Amanda T. ; Harris, Richard E. ; Davies, Stella M. ; Dale, David C. ; Shimamura, Akiko. / Variable clinical presentation of shwachman-diamond syndrome : Update from the North American shwachman-diamond syndrome registry. In: Journal of Pediatrics. 2014 ; Vol. 164, No. 4. pp. 866-870.
@article{6e1392911a9b432ab6630bec0aa9e8d9,
title = "Variable clinical presentation of shwachman-diamond syndrome: Update from the North American shwachman-diamond syndrome registry",
abstract = "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.",
author = "Myers, {Kasiani C.} and Bolyard, {Audrey Anna} and Barbara Otto and Trisha Wong and Jones, {Amanda T.} and Harris, {Richard E.} and Davies, {Stella M.} and Dale, {David C.} and Akiko Shimamura",
year = "2014",
doi = "10.1016/j.jpeds.2013.11.039",
language = "English (US)",
volume = "164",
pages = "866--870",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "4",

}

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

AU - Jones, Amanda T.

AU - Harris, Richard E.

AU - Davies, Stella M.

AU - Dale, David C.

AU - Shimamura, Akiko

PY - 2014

Y1 - 2014

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

VL - 164

SP - 866

EP - 870

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 4

ER -