期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 11, 页码 2768-2774出版社
WILEY
DOI: 10.1002/ajmg.a.33713
关键词
Noonan syndrome; bleeding diathesis; myelodysplasia; protein C; coagulation; factor VIII; factor XI; factor XII; PTPN11 gene
资金
- Baskent University Faculty of Medicine
- Scientific Research Committee of Baskent University Faculty of Medicine [KA 07/46]
Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rates of coagulopathy. The aim of this study was to evaluate phenotypic characteristics, PTPN11 gene mutations, and hematological and coagulation parameters in 30 clinically diagnosed cases of NS. One of the NS patients had a history of easy bruising; however, his hematological and coagulation tests were normal. None of the other patients had clinical coagulation problems. In the NS group, values for platelet count, activity of factors XI, XII, and protein C were significantly lower than the corresponding means for the control group. However, the results of coagulation tests in the NS group were diagnostically inconclusive and only one patient had clinical signs of coagulopathy. Interestingly, two NS patients had low protein C activity. One of these children had an A1517C mutation and transient myelodysplasia. The other patient had a C1528G mutation in exon 13 that has not been reported previously. Neither of these individuals experienced a thrombotic event or any complication during approximately 3 years of follow-up. For all patients clinically diagnosed with NS, a thorough history of coagulation issues should be taken and first-line coagulation testing should be done to evaluate for bleeding diathesis. However, if these assessments reveal nothing abnormal, complications related to coagulation are unlikely and extensive testing is unnecessary. (C) 2010 Wiley-Liss, Inc.
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