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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
DC Field | Value | Language |
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dc.contributor.author | 남궁란 | - |
dc.contributor.author | 박국인 | - |
dc.contributor.author | 박민수 | - |
dc.contributor.author | 신정은 | - |
dc.contributor.author | 은호선 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이순민 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 임명섭 | - |
dc.date.accessioned | 2018-01-23T05:52:44Z | - |
dc.date.available | 2018-01-23T05:52:44Z | - |
dc.date.issued | 2016 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/155767 | - |
dc.description.abstract | 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℃ 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. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | Neonatal Medicine | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Myung Seop Lim | - |
dc.contributor.googleauthor | Jung Eun Shin | - |
dc.contributor.googleauthor | Soon Min Lee | - |
dc.contributor.googleauthor | Ho Sun Eun | - |
dc.contributor.googleauthor | Min Soo Park | - |
dc.contributor.googleauthor | Kook In Park | - |
dc.contributor.googleauthor | Ran Namgung | - |
dc.contributor.googleauthor | Kyung A Lee | - |
dc.contributor.googleauthor | Jin Sung Lee | - |
dc.identifier.doi | 10.5385/nm.2016.23.4.233 | - |
dc.contributor.localId | A01241 | - |
dc.contributor.localId | A01438 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A02152 | - |
dc.contributor.localId | A02635 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02905 | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A05173 | - |
dc.relation.journalcode | J02310 | - |
dc.contributor.alternativeName | Namgung, Ran | - |
dc.contributor.alternativeName | Park, Kook In | - |
dc.contributor.alternativeName | Park, Min Soo | - |
dc.contributor.alternativeName | Shin, Jeong Eun | - |
dc.contributor.alternativeName | Eun, Ho Seon | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Soon Min | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Lim, Myung Seop | - |
dc.contributor.affiliatedAuthor | Namgung, Ran | - |
dc.contributor.affiliatedAuthor | Park, Kook In | - |
dc.contributor.affiliatedAuthor | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | Shin, Jeong Eun | - |
dc.contributor.affiliatedAuthor | Eun, Ho Seon | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Soon Min | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Lim, Myung Seop | - |
dc.citation.volume | 23 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 233 | - |
dc.citation.endPage | 237 | - |
dc.identifier.bibliographicCitation | Neonatal Medicine, Vol.23(4) : 233-237, 2016 | - |
dc.identifier.rimsid | 48221 | - |
dc.type.rims | ART | - |
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