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IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례
DC Field | Value | Language |
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dc.contributor.author | 나지훈 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이현주 | - |
dc.date.accessioned | 2024-07-01T06:52:32Z | - |
dc.date.available | 2024-07-01T06:52:32Z | - |
dc.date.issued | 2023-06 | - |
dc.identifier.issn | 2234-8751 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/199842 | - |
dc.description.abstract | Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases. | - |
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 | IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례 | - |
dc.title.alternative | A Case of Urologic Manifestation of IARS2-associated Leigh Syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | 이현주 | - |
dc.contributor.googleauthor | 나지훈 | - |
dc.contributor.googleauthor | 이영목 | - |
dc.contributor.localId | A05215 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A04645 | - |
dc.relation.journalcode | J01876 | - |
dc.subject.keyword | IARS2 | - |
dc.subject.keyword | Bladder dysfunction | - |
dc.subject.keyword | Mitochondrial disease | - |
dc.subject.keyword | Leigh syndrome | - |
dc.subject.keyword | Overactive bladder syndrome | - |
dc.subject.keyword | Detrusor overactivity | - |
dc.contributor.alternativeName | Na, Ji Hoon | - |
dc.contributor.affiliatedAuthor | 나지훈 | - |
dc.contributor.affiliatedAuthor | 이영목 | - |
dc.contributor.affiliatedAuthor | 이현주 | - |
dc.citation.volume | 23 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 25 | - |
dc.citation.endPage | 30 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.23(1) : 25-30, 2023-06 | - |
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