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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 233 - 237 (5page)
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초록· 키워드
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Protein C (PROC) deficiency is caused by mutations in the PROC gene on chromosome 2q14.3. Patients with PROC deficiency typically present distinguished purpura, intracerebral and intravascular coagulopathy, and ophthalmologic complications. Here, we report a rare severe form of PROC deficiency resulting from a compound heterozygosity in PROC. The patient was a 5-day- old female neonate born at 39 weeks of gestation with a birth weight of 2,960 g. She was transferred to our hospital with running a fever at 38.5°C and with dark red patches on her feet. At admission, a complete blood count showed no specific findings, but levels of PROC and protein S were abnormally low (1% and 68%, respectively). Magnetic resonance imaging revealed intracerebral hemorrhaging and parenchymal damage with dysplasia of the brain. Ophthalmologic examination revealed vitreous hemorrhaging with retinal detachment. Genetic testing revealed a missense mutation (Arg211Trp) and a frameshift mutation (Gly239Serfs*8) in PROC, inherited from the father and mother, respectively.
The patient recovered from purpura after undergoing ventriculoperitoneal shunting and treatment with fresh frozen plasma, warfarin sodium, and PROC concentrate.
This is the first report of severe neonatal PROC deficiency with purpura fulminans, vitreous hemorrhage, and intracerebral hemorrhage confirmed via PROC genetic testing, which identified a rare compound heterozygosity of PROC.
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참고문헌 (20)
참고문헌 신청
Tcheng WY / 2008 / Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics / J Pediatr Hematol Oncol 30:166~171
Cooper PC / 2012 / The phenotypic and genetic assessment of protein C deficiency / Int J Lab Hematol 34:336~346
Unal S / 2014 / A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period / Pediatr Blood Cancer 61:763~764
Al Antary ET / 2013 / Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1 / Blood Coagul Fibrinolysis 24:777~779
Goldenberg NA / 2008 / Protein C deficiency / Haemophilia 14:1214~1221
Cooper PC / 2012 / The phenotypic and genetic assessment of protein C deficiency / Int J Lab Hematol 34:336~346
Unal S / 2014 / A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period / Pediatr Blood Cancer 61:763~764
Al Antary ET / 2013 / Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1 / Blood Coagul Fibrinolysis 24:777~779
Goldenberg NA / 2008 / Protein C deficiency / Haemophilia 14:1214~1221
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