ATC Abstracts

American Transplant Congress abstracts

  • Home
  • Meetings Archive
    • 2022 American Transplant Congress
    • 2021 American Transplant Congress
    • 2020 American Transplant Congress
    • 2019 American Transplant Congress
    • 2018 American Transplant Congress
    • 2017 American Transplant Congress
    • 2016 American Transplant Congress
    • 2015 American Transplant Congress
    • 2013 American Transplant Congress
  • Keyword Index
  • Resources
    • 2021 Resources
    • 2016 Resources
      • 2016 Welcome Letter
      • ATC 2016 Program Planning Committees
      • ASTS Council 2015-2016
      • AST Board of Directors 2015-2016
    • 2015 Resources
      • 2015 Welcome Letter
      • ATC 2015 Program Planning Committees
      • ASTS Council 2014-2015
      • AST Board of Directors 2014-2015
      • 2015 Conference Schedule
  • Search

Genotype and Phenotype Analysis and the Transplantation Strategy in Children with Uremia Caused by Nephronophthisis

J. Li, H. Zhang, X. Su, J. Li, S. Wu, W. Wu, L. Ling, Q. Fu, C. Wu, L. Liu, C. Wang

Organ Transplant Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

Meeting: 2022 American Transplant Congress

Abstract number: 822

Keywords: Kidney transplantation, Nephropathy, Pediatric, Prognosis

Topic: Clinical Science » Kidney » 43 - Kidney: Pediatrics

Session Information

Session Name: Kidney: Pediatrics

Session Type: Poster Abstract

Date: Saturday, June 4, 2022

Session Time: 5:30pm-7:00pm

 Presentation Time: 5:30pm-7:00pm

Location: Hynes Halls C & D

*Purpose: Nephronophthisis- related ciliopathies(NPHP- RC), as an important cause of children’s end-stage renal disease(ESRD), has strong genotype and phenotype heterogeneity, and the transplantation strategy of NPHP with liver fibrosis is still controversial. This study aimed to explore the genotype and phenotype spectrum of kidney transplant children and analyze the transplantation strategies of different phenotypes.

*Methods: From 01/2018 to 03/2021, all children with NPHP under 18 years old who received kidney transplantation in our center were enrolled in this study. Whole exome Sequencing (WES) or nephropathy gene panel was used to analyze the genotype of children.

*Results: 29 patients were enrolled in this study, 9(31%) presented with NPHP1 mutations, 6(20.7%) presented with NPHP3 mutations. All children with NPHP1 mutations presented with isolated nephropathy, and 7/9 had a homozygous deletion of whole genes. 18/20 patients with non-NPHP1 mutations carried complex heterozygous mutations, and 70% of the patients with non-NPHP1 mutations had extrarenal phenotype. The mean age of NPHP onset in NPHP1 group was 11.2±1.94 years, while non-NPHP1 groups was 5.2±2.83 years. The mean age of ESRD in NPHP1 group was 12.4±2.70 years, while non-NPHP1 groups was 5.7±2.92 years. Of the children with NPHP3 mutations, 4/6 presented with liver fibrosis and were diagnosed with Boichis syndrome. We have different transplant strategy depending on the phenotype of the patients(Fig 1). For NPHP patients with mild or moderate liver fibrosis and without portal hypertension, both grafts and patients have a good prognosis after isolated kidney transplantation. While, all these 3 patients developed cholestasis after operation, Ursodeoxycholic Acid could restore liver function to normal.

*Conclusions: NPHP1 mutation is the most common type of mutation, which is characterized by isolated nephropathy and later developed into ESRD. Non-NPHP1 mutations often involve extrarenal organs and develop into ESRD earlier. For NPHP patients with mild to moderate hepatic fibrosis without portal hypertension, timely treatment of cholestasis after isolated kidney transplantation can prevent liver function damage and prevent the occurrence of adverse events.

  • Tweet
  • Email
  • Print

To cite this abstract in AMA style:

Li J, Zhang H, Su X, Li J, Wu S, Wu W, Ling L, Fu Q, Wu C, Liu L, Wang C. Genotype and Phenotype Analysis and the Transplantation Strategy in Children with Uremia Caused by Nephronophthisis [abstract]. Am J Transplant. 2022; 22 (suppl 3). https://atcmeetingabstracts.com/abstract/genotype-and-phenotype-analysis-and-the-transplantation-strategy-in-children-with-uremia-caused-by-nephronophthisis/. Accessed May 9, 2025.

« Back to 2022 American Transplant Congress

Visit Our Partner Sites

American Transplant Congress (ATC)

Visit the official site for the American Transplant Congress »

American Journal of Transplantation

The official publication for the American Society of Transplantation (AST) and the American Society of Transplant Surgeons (ASTS) »

American Society of Transplantation (AST)

An organization of more than 3000 professionals dedicated to advancing the field of transplantation. »

American Society of Transplant Surgeons (ASTS)

The society represents approximately 1,800 professionals dedicated to excellence in transplantation surgery. »

Copyright © 2013-2025 by American Society of Transplantation and the American Society of Transplant Surgeons. All rights reserved.

Privacy Policy | Terms of Use | Cookie Preferences