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Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
- Title
- Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
- Authors
- Kim; Ji Hyun; Lim; Seon Hee; Song; Ji Yeon; Cho; Myung Hyun; Hyun; HyeSun; Yang; Eun Mi; Lee; Jung Won; Min Hyun; Park; Min Ji; Joo Hoon; Jung; Jiwon; Yoo; Kee Hwan; Jang; Kyung Mi; Pai; Ki Soo; Suh; Jin-Soon; Namgoong; Mee Kyung; Chung; Woo Yeong; Su Jin; Eun Young; Kyung Min; Nam Hee; Minsun; Paik; Jin Ho; Kang; Hee Gyung; Ahn; Yo Han; Cheong; Hae Il
- Ewha Authors
- 이정원
- SCOPUS Author ID
- 이정원
- Issue Date
- 2023
- Journal Title
- Scientific Reports
- ISSN
- 2045-2322
- Citation
- Scientific Reports vol. 13, no. 1
- Publisher
- Nature Research
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- Abstract
- The genotype–phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype–phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype–phenotype correlation not only in male patients but also in female patients with XLAS. © 2023, The Author(s).
- DOI
- 10.1038/s41598-023-34053-7
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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