Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea

被引：3

作者：

Kim, Ji Hyun ^{[1
,2
]}

Lim, Seon Hee ^{[3
,4
]}

Song, Ji Yeon ^{[3
,4
]}

Cho, Myung Hyun ^{[5
]}

Hyun, HyeSun ^{[6
]}

Yang, Eun Mi ^{[7
,8
]}

Lee, Jung Won ^{[9
]}

Cho, Min Hyun ^{[10
]}

Park, Min Ji ^{[10
]}

Lee, Joo Hoon ^{[11
]}

Jung, Jiwon ^{[11
]}

Yoo, Kee Hwan ^{[12
]}

Jang, Kyung Mi ^{[13
]}

Pai, Ki Soo ^{[14
]}

Suh, Jin-Soon ^{[15
]}

Namgoong, Mee Kyung ^{[16
]}

Chung, Woo Yeong ^{[17
]}

Kim, Su Jin ^{[18
]}

Cho, Eun Young ^{[19
]}

Kim, Kyung Min ^{[19
]}

Kim, Nam Hee ^{[20
]}

Kim, Minsun ^{[21
]}

Paik, Jin Ho ^{[22
,23
]}

Kang, Hee Gyung ^{[2
,24
,25
]}

Ahn, Yo Han ^{[2
,24
,25
]}

Cheong, Hae Il ^{[26
]}

机构：

[1] Seoul Natl Univ, Bundang Hosp, Dept Pediat, Seongnam, South Korea

[2] Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea

[3] Pusan Natl Univ, Dept Pediat, Yangsan Childrens Hosp, Yangsan, South Korea

[4] Sch Med, Yangsan, South Korea

[5] Hallym Univ, Dept Pediat, Sacred Heart Hosp, Anyang, South Korea

[6] Catholic Univ Korea, St Vincents Hosp, Coll Med, Dept Pediat, Seoul, South Korea

[7] Chonnam Natl Univ, Dept Pediat, Gwangju, South Korea

[8] Sch Med, Gwangju, South Korea

[9] Ewha Womans Univ, Sch Med, Dept Pediat, Seoul, South Korea

[10] Kyungpook Natl Univ, Sch Med, Dept Pediat, Daegu, South Korea

[11] Univ Ulsan, Asan Med Ctr, Dept Pediat, Coll Med,Childrens Hosp, Seoul, South Korea

[12] Woori Childrens Hosp, Dept Nephrol, Seoul, South Korea

[13] Yeungnam Univ, Dept Pediat, Coll Med, Gyongsan, South Korea

[14] Ajou Univ, Dept Pediat, Sch Med, Suwon, South Korea

[15] Catholic Univ Korea, Bucheon St Marys Hosp, Coll Med, Dept Pediat, Bucheon St, Seoul, South Korea

[16] Yonsei Univ, Wonju Severance Christian Hosp, Dept Pediat, Wonju Coll Med, Wonju, South Korea

[17] WooYeong Chung Pediat Clin, Busan, South Korea

[18] Inha Univ, Inha Univ Hosp, Dept Pediat, Coll Med, Incheon, South Korea

[19] Chungnam Natl Univ Hosp, Dept Pediat, Daejeon, South Korea

[20] Inje Univ, Dept Pediat, Ilsan Paik Hosp, Goyang, South Korea

[21] Jeonbuk Natl Univ, Dept Pediat, Med Sch, Jeonju, South Korea

[22] Seoul Natl Univ, Bundang Hosp, Dept Pathol, Seongnam, South Korea

[23] Seoul Natl Univ, Coll Med, Seongnam, South Korea

[24] Seoul Natl Univ, Dept Pediat, Childrens Hosp, Seoul, South Korea

[25] Seoul Natl Univ, Kidney Res Inst, Med Res Ctr, Seoul, South Korea

[26] Seoul Red Cross Hosp, Dept Pediat, Seoul, South Korea

来源：

SCIENTIFIC REPORTS | 2023年 / 13卷 / 01期

基金：

新加坡国家研究基金会;

关键词：

NATURAL-HISTORY; 195; FAMILIES; VARIANTS;

D O I：

10.1038/s41598-023-34053-7

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：10

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