Clinical and Genetic Assessment for the Mechanisms Underlying Phenotypic Diversity in Steroid-Resistant Nephrotic Syndrome Caused by TRPC6 Variants

被引：0
|
作者：
Tsukaguchi, Hiroyasu [1 ,2 ]
Tran Thuy Huong Quynh [1 ]
Hayashi, Mikio [4 ]
Fukui, Kenji [3 ]
机构：
[1] Kansai Med Univ, Second Dept Internal Med, Hirakata, Osaka, Japan
[2] Kansai Med Univ Hosp, Clin Genet Ctr, Hirakata, Osaka, Japan
[3] Osaka Med & Pharmaceut Univ, Dept Biochem, Fac Med, Takatsuki, Osaka, Japan
[4] Kansai Med Univ, Dept Physiol, Hirakata, Osaka, Japan
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2024年 / 35卷 / 10期
关键词：
D O I：
10.1681/ASN.2024s36kn7xm
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
TH-PO498
引用
收藏
页数：2
相关论文
共 50 条
  • [31] GENETIC MARKERS FOR PROGRESSION OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDHOOD
    Prikhodina, Larisa
    Zaklyazminskaya, Elena
    Poltavets, Natalia
    Ignatova, Maya
    Polaykov, Alexander
    NEPHROLOGY, 2005, 10 : A246 - A246
  • [32] Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation
    Yang, Huihui
    Zhu, Gaohong
    Shao, Wenjun
    Liao, Panli
    Yan, Yuan
    Wang, Chun
    Wang, Xiaowen
    PEDIATRIC NEPHROLOGY, 2025, : 1663 - 1676
  • [33] Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report
    Nagasaka, Tomoki
    Uchiyama, Kiyotaka
    Hama, Eriko Yoshida
    Kojima, Daiki
    Kaneko, Kenji
    Yoshimoto, Norifumi
    Yasuda, Itaru
    Yamada, Mamiko
    Miya, Fuyuki
    Suzuki, Hisato
    Tajima, Takaya
    Yamaguchi, Shintaro
    Hayashi, Kaori
    Kanda, Takeshi
    Hashiguchi, Akinori
    Kosaki, Kenjiro
    Itoh, Hiroshi
    CEN CASE REPORTS, 2024, : 208 - 216
  • [34] Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing
    Kari, Jameela Abdulaziz
    ANNALS OF SAUDI MEDICINE, 2014, 34 (03) : 270 - 270
  • [35] Cyclosporine a (CSA) in sporadic and genetic steroid-resistant nephrotic syndrome (SRNS)
    Kemper, M. J.
    Rink, N.
    Moeller, C.
    Helmchen, U.
    Mueller-Wiefel, De.
    PEDIATRIC NEPHROLOGY, 2007, 22 (09) : 1599 - 1599
  • [36] CLINICAL GENETIC TESTING USING NEXT GENERATION SEQUENCING IN STEROID-RESISTANT NEPHROTIC SYNDROME AND ALPORT SYNDROME
    Sen, Ethan
    Dean, Philip
    Yarram-smith, Laura
    Bierzynska, Agnieszka
    Woodward, Geoff
    Buxton, Chris
    Dennis, Gemma
    Welsh, Gavin
    Williams, Maggie
    Saleem, Moin
    PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1653 - 1654
  • [37] Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome
    Al Riyami, Mohamed S. S.
    Al Alawi, Intisar
    Al Gaithi, Badria
    Al Maskari, Anisa
    Al Kalbani, Naifain
    Al Hashmi, Nadia
    Al Balushi, Aisha
    Al Shahi, Maryam
    Al Saidi, Suliman
    Al Bimani, Muna
    Al Hatali, Fahad
    Mabillard, Holly
    Sayer, John A. A.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (09):
  • [38] Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults
    Gribouval, Olivier
    Boyer, Olivia
    Hummel, Aurelie
    Dantal, Jacques
    Martinez, Frank
    Sberro-Soussan, Rebecca
    Etienne, Isabelle
    Chauveau, Dominique
    Delahousse, Michel
    Lionet, Arnaud
    Allard, Julien
    Noble, Claire Pouteil
    Tete, Marie-Josephe
    Heidet, Laurence
    Antignac, Corinne
    Servais, Aude
    KIDNEY INTERNATIONAL, 2018, 94 (05) : 1013 - 1022
  • [39] Clinical efficacy and pharmacokinetics of tacrolimus in children with steroid-resistant nephrotic syndrome
    Afsana Jahan
    Ratna Prabha
    Swasti Chaturvedi
    Binu Mathew
    Denise Fleming
    Indira Agarwal
    Pediatric Nephrology, 2015, 30 : 1961 - 1967
  • [40] Clinical efficacy and pharmacokinetics of tacrolimus in children with steroid-resistant nephrotic syndrome
    Jahan, Afsana
    Prabha, Ratna
    Chaturvedi, Swasti
    Mathew, Binu
    Fleming, Denise
    Agarwal, Indira
    PEDIATRIC NEPHROLOGY, 2015, 30 (11) : 1961 - 1967
12345