It appears you don't have support to open PDFs in this web browser. To view this file, Open with your PDF reader
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.
You have requested "on-the-fly" machine translation of selected content from our databases. This functionality is provided solely for your convenience and is in no way intended to replace human translation. Show full disclaimer
Neither ProQuest nor its licensors make any representations or warranties with respect to the translations. The translations are automatically generated "AS IS" and "AS AVAILABLE" and are not retained in our systems. PROQUEST AND ITS LICENSORS SPECIFICALLY DISCLAIM ANY AND ALL EXPRESS OR IMPLIED WARRANTIES, INCLUDING WITHOUT LIMITATION, ANY WARRANTIES FOR AVAILABILITY, ACCURACY, TIMELINESS, COMPLETENESS, NON-INFRINGMENT, MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE. Your use of the translations is subject to all use restrictions contained in your Electronic Products License Agreement and by using the translation functionality you agree to forgo any and all claims against ProQuest or its licensors for your use of the translation functionality and any output derived there from. Hide full disclaimer
Details
1 Seoul National University Bundang Hospital, Department of Pediatrics, Seongnam, South Korea (GRID:grid.412480.b) (ISNI:0000 0004 0647 3378); Seoul National University College of Medicine, Department of Pediatrics, Seoul, South Korea (GRID:grid.31501.36) (ISNI:0000 0004 0470 5905)
2 Pusan National University Yangsan Children’s Hospital and School of Medicine, Department of Pediatrics, Yangsan, South Korea (GRID:grid.262229.f) (ISNI:0000 0001 0719 8572)
3 Hallym University Sacred Heart Hospital, Department of Pediatrics, Anyang, South Korea (GRID:grid.488421.3) (ISNI:0000000404154154)
4 The Catholic University of Korea, Department of Pediatrics, College of Medicine, St. Vincent’s Hospital, Seoul, South Korea (GRID:grid.411947.e) (ISNI:0000 0004 0470 4224)
5 Chonnam National University and School of Medicine, Department of Pediatrics, Gwangju, South Korea (GRID:grid.14005.30) (ISNI:0000 0001 0356 9399)
6 Ewha Womans University School of Medicine, Department of Pediatrics, Seoul, South Korea (GRID:grid.255649.9) (ISNI:0000 0001 2171 7754)
7 Kyungpook National University, School of Medicine, Department of Pediatrics, Daegu, South Korea (GRID:grid.258803.4) (ISNI:0000 0001 0661 1556)
8 University of Ulsan College of Medicine, Department of Pediatrics, Asan Medical Center Children’s Hospital, Seoul, South Korea (GRID:grid.267370.7) (ISNI:0000 0004 0533 4667)
9 Woori Children’s Hospital, Department of Nephrology, Seoul, South Korea (GRID:grid.267370.7)
10 Yeungnam University College of Medicine, Department of Pediatrics, Gyeongsan, South Korea (GRID:grid.413028.c) (ISNI:0000 0001 0674 4447)
11 Ajou University School of Medicine, Department of Pediatrics, Suwon, South Korea (GRID:grid.251916.8) (ISNI:0000 0004 0532 3933)
12 The Catholic University of Korea, Department of Pediatrics, Bucheon St. Mary’s Hospital, College of Medicine, Seoul, South Korea (GRID:grid.411947.e) (ISNI:0000 0004 0470 4224)
13 Yonsei University Wonju College of Medicine, Department of Pediatrics, Wonju Severance Christian Hospital, Wonju, South Korea (GRID:grid.15444.30) (ISNI:0000 0004 0470 5454)
14 WooYeong Chung Pediatrics Clinic, Busan, South Korea (GRID:grid.15444.30)
15 Inha University College of Medicine, Inha University Hospital, Department of Pediatrics, Incheon, South Korea (GRID:grid.15444.30)
16 Chungnam National University Hospital, Department of Pediatrics, Daejeon, South Korea (GRID:grid.411665.1) (ISNI:0000 0004 0647 2279)
17 Inje University Ilsan Paik Hospital, Department of Pediatrics, Goyang, South Korea (GRID:grid.411633.2) (ISNI:0000 0004 0371 8173)
18 Jeonbuk National University Medical School, Department of Pediatrics, Jeonju, South Korea (GRID:grid.411545.0) (ISNI:0000 0004 0470 4320)
19 Seoul National University Bundang Hospital and Seoul National University College of Medicine, Department of Pathology, Seongnam, South Korea (GRID:grid.412480.b) (ISNI:0000 0004 0647 3378)
20 Seoul National University College of Medicine, Department of Pediatrics, Seoul, South Korea (GRID:grid.31501.36) (ISNI:0000 0004 0470 5905); Seoul National University Children’s Hospital, Department of Pediatrics, Seoul, South Korea (GRID:grid.412482.9) (ISNI:0000 0004 0484 7305); Seoul National University, Kidney Research Institute, Medical Research Center, Seoul, South Korea (GRID:grid.31501.36) (ISNI:0000 0004 0470 5905)
21 Seoul Red Cross Hospital, Department of Pediatrics, Seoul, South Korea (GRID:grid.31501.36)