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Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Beom Hee | - |
dc.contributor.author | Ahn, Yo Han | - |
dc.contributor.author | Choi, Hyun Jin | - |
dc.contributor.author | Kang, Hee Kyung | - |
dc.contributor.author | Kim, Sung-Do | - |
dc.contributor.author | Cho, Byoung-Soo | - |
dc.contributor.author | Moon, Kyung Chul | - |
dc.contributor.author | Ha, Il Soo | - |
dc.contributor.author | Cheong, Hae Il | - |
dc.contributor.author | Choi, Yong | - |
dc.date.accessioned | 2009-05-27T22:57:31Z | - |
dc.date.available | 2009-05-27T22:57:31Z | - |
dc.date.issued | 2008 | - |
dc.identifier.citation | J Korean Med Sci 2009; 24(Suppl 1): S210-4 | en |
dc.identifier.issn | 1011-8934 (print) | - |
dc.identifier.issn | 1598-6357 (online) | - |
dc.identifier.uri | https://hdl.handle.net/10371/3961 | - |
dc.description.abstract | Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1). There have been few clinical case reports of CNF in Korea, but none of which was confirmed by genetic study. Here, we report two children with congenital nephrotic syndrome. Genetic analysis of the NPHS1 gene revealed compound heterozygous frame-shifting mutations (c.2156_2163 delTGCACTGC causing p.L719DfsX4 and c.3250_3251insG causing p.V1084GfsX12) in one patient and a missense mutation (c.1381G>A causing p.R460Q) and a nonsense mutation (c.2442C>G causing p.Y814X) in the other patient. The nonsense mutation was novel. The clinical courses of the patients were typical of CNF. This is the first report of genetically confirmed CNF in Korea to date. The early genetic diagnosis of CNF is important for proper clinical management of the patients and precise genetic counseling of the families. | en |
dc.description.sponsorship | This study was supported by a grant (06-2008-192-9) from Seoul National University Hospital. | en |
dc.language.iso | en | en |
dc.publisher | 대한의학회 = Korean Academy of Medical Science | en |
dc.subject | Congenital Nephrotic Syndrome | en |
dc.subject | Congenital Nephrotic Syndrome of Finnish Type | en |
dc.subject | NPHS1 Gene | en |
dc.subject | Nephrin | en |
dc.subject | Mutation | en |
dc.title | Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 이범희 | - |
dc.contributor.AlternativeAuthor | 안요한 | - |
dc.contributor.AlternativeAuthor | 최현진 | - |
dc.contributor.AlternativeAuthor | 강희경 | - |
dc.contributor.AlternativeAuthor | 김성도 | - |
dc.contributor.AlternativeAuthor | 조병수 | - |
dc.contributor.AlternativeAuthor | 문경철 | - |
dc.contributor.AlternativeAuthor | 하일수 | - |
dc.contributor.AlternativeAuthor | 정해일 | - |
dc.contributor.AlternativeAuthor | 최용 | - |
dc.identifier.doi | 10.3346/jkms.2009.24.S1.S210 | - |
dc.citation.journaltitle | Journal of Korean medical science | - |
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