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FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형
DC Field | Value | Language |
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dc.contributor.author | 이진성 | - |
dc.date.accessioned | 2022-02-23T01:28:20Z | - |
dc.date.available | 2022-02-23T01:28:20Z | - |
dc.date.issued | 2020-12 | - |
dc.identifier.issn | 2234-8751 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/187717 | - |
dc.description.abstract | A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한유전성대사질환학회 | - |
dc.relation.isPartOf | Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형 | - |
dc.title.alternative | Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | 양성민 | - |
dc.contributor.googleauthor | 최효원 | - |
dc.contributor.googleauthor | 강윤구 | - |
dc.contributor.googleauthor | 이진성 | - |
dc.contributor.googleauthor | 남궁미경 | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J01876 | - |
dc.subject.keyword | Hereditary tyrosinemia type 1 | - |
dc.subject.keyword | Chronic tyrosinemia | - |
dc.subject.keyword | Metabolic disorder | - |
dc.subject.keyword | Tandem mass spectrometry | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.citation.volume | 20 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 55 | - |
dc.citation.endPage | 62 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.20(2) : 55-62, 2020-12 | - |
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