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Agranular platelets as a cardinal feature of ARC syndrome

Authors
 Seong Min Kim  ;  Hye Kyung Chang  ;  Jae Woo Song  ;  Hong Koh  ;  Seok Joo Han 
Citation
 JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, Vol.32(4) : 253-258, 2010 
Journal Title
 JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 
ISSN
 1077-4114 
Issue Date
2010
MeSH
Arthrogryposis/diagnosis* ; Blood Platelet Disorders/diagnosis* ; Blood Platelets/ultrastructure* ; Child, Preschool ; Cholestasis/diagnosis* ; Female ; Humans ; Infant ; Infant, Newborn ; Kidney Diseases/diagnosis* ; Male ; Syndrome
Keywords
ARC syndrome ; cholestasis ; a granule ; gray platelet ; VPS 33B
Abstract
We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis renal dysfunction and cholestasis (ARC) syndrome. We collected all of the cases of ARC syndrome referred to a single pediatric referral center. In all patients, platelet counts and analysis of platelet morphology were performed with peripheral blood smear specimens. Electron microscopy images were obtained to examine the ultrastructure of the platelets. Over the 12-year period, 12 cases of ARC syndrome were identified. The sex ratio (male:female) was 1:1. The median birth weight was 3.15 kg (range, 2.3 to 3.8 kg). Failure to thrive was observed in all the patients. The major cause of death was recurrent febrile illness and pneumonia. The median age at death was 8.9 months (range, 2.6 to 28.8 kg). Their median body weight at death was 3.1 kg (range, 2.6 to 6.0 kg). Close examination of their peripheral blood smear (n=11) specimens showed large, pale, agranular platelets similar to those seen in gray platelet syndrome. Electron microscopic images of the platelets (n=7) revealed a lack of alpha; granules. Agranular platelets are a common finding in ARC syndrome. Agranular platelets should be considered as a cardinal feature of ARC syndrome and can be useful as a noninvasive diagnostic marker for ARC syndrome
Full Text
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00043426-201005000-00001&LSLINK=80&D=ovft
DOI
10.1097/MPH.0b013e3181c3a8d0
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Kim, Seong Min(김성민)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Chang, Hye Kyung(장혜경)
Han, Seok Joo(한석주) ORCID logo https://orcid.org/0000-0001-5224-1437
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/100938
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