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Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation

DC FieldValueLanguage
dc.contributor.author남궁란-
dc.contributor.author박국인-
dc.contributor.author박민수-
dc.contributor.author신정은-
dc.contributor.author은호선-
dc.contributor.author이경아-
dc.contributor.author이순민-
dc.contributor.author이진성-
dc.contributor.author임명섭-
dc.date.accessioned2018-01-23T05:52:44Z-
dc.date.available2018-01-23T05:52:44Z-
dc.date.issued2016-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/155767-
dc.description.abstractProtein 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.statementOfResponsibilityopen-
dc.relation.isPartOfNeonatal Medicine-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleDiagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pediatrics-
dc.contributor.googleauthorMyung Seop Lim-
dc.contributor.googleauthorJung Eun Shin-
dc.contributor.googleauthorSoon Min Lee-
dc.contributor.googleauthorHo Sun Eun-
dc.contributor.googleauthorMin Soo Park-
dc.contributor.googleauthorKook In Park-
dc.contributor.googleauthorRan Namgung-
dc.contributor.googleauthorKyung A Lee-
dc.contributor.googleauthorJin Sung Lee-
dc.identifier.doi10.5385/nm.2016.23.4.233-
dc.contributor.localIdA01241-
dc.contributor.localIdA01438-
dc.contributor.localIdA01468-
dc.contributor.localIdA02152-
dc.contributor.localIdA02635-
dc.contributor.localIdA02647-
dc.contributor.localIdA02905-
dc.contributor.localIdA03227-
dc.contributor.localIdA05173-
dc.relation.journalcodeJ02310-
dc.contributor.alternativeNameNamgung, Ran-
dc.contributor.alternativeNamePark, Kook In-
dc.contributor.alternativeNamePark, Min Soo-
dc.contributor.alternativeNameShin, Jeong Eun-
dc.contributor.alternativeNameEun, Ho Seon-
dc.contributor.alternativeNameLee, Kyung A-
dc.contributor.alternativeNameLee, Soon Min-
dc.contributor.alternativeNameLee, Jin Sung-
dc.contributor.alternativeNameLim, Myung Seop-
dc.contributor.affiliatedAuthorNamgung, Ran-
dc.contributor.affiliatedAuthorPark, Kook In-
dc.contributor.affiliatedAuthorPark, Min Soo-
dc.contributor.affiliatedAuthorShin, Jeong Eun-
dc.contributor.affiliatedAuthorEun, Ho Seon-
dc.contributor.affiliatedAuthorLee, Kyung A-
dc.contributor.affiliatedAuthorLee, Soon Min-
dc.contributor.affiliatedAuthorLee, Jin Sung-
dc.contributor.affiliatedAuthorLim, Myung Seop-
dc.citation.volume23-
dc.citation.number4-
dc.citation.startPage233-
dc.citation.endPage237-
dc.identifier.bibliographicCitationNeonatal Medicine, Vol.23(4) : 233-237, 2016-
Appears in Collections:
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
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers

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