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Kidney 4

Tuesday March 28, 2023 - 08:00 to 09:00

Room: Zilker 3-4

400.3 Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP

Longshan Liu, People's Republic of China

Dr
Organ Transplant Center
Sun Yat-sen University

Abstract

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP

Jianyi Li1, Xiaojun Su1, Huanxi Zhang1, Wenrui Wu1, Jianming Li1, Yanxu Chen1, Jun Li1, Qian Fu1, Chenglin Wu1, Xuhui Zhong2, Changxi Wang1, Longshan Liu1.

1Organ Transplant Center, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China; 2Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China

Introduction: Nephronophthisis-related ciliopathies (NPHP- RC) has strong genotype and phenotype heterogeneity, and the transplantation strategy of Boichis syndrome is still controversial. Our purpose was to examine associations of genotype and phenotype in children with NPHP-RC and analyze the transplantation strategies of different phenotypes.
Methods: The records of children with NPHP treated at our center from 01/2018 to 03/2021 were retrospectively reviewed. Inclusion criteria were a diagnosis of NPHP, received kidney transplantation, and received whole exome sequencing (WES) or nephropathy gene panel testing.
Results: Twenty-nine children with NPHP were included. Nine children (31%) had NPHP1 mutations, and all presented with isolated nephropathy. Eighteen of 20 patients with non-NPHP1 mutations had compound heterozygous mutations, and 70% had extrarenal phenotype. Age at disease presentation (11.2±1.94 years) and the development of kidney failure (12.4±2.70 years) were later in children with NPHP1 mutations than those with non-NPHP1 mutations (5.2±2.83 years and 5.7±2.92 years, respectively). Four of six children with NPHP3 mutations were diagnosed with Boichis syndrome due to liver fibrosis. Isolated kidney transplantation resulted in good outcomes for patients with mild or moderate liver fibrosis without portal hypertension, while cholestasis is common postoperatively and can be resolved with ursodeoxycholic acid.
Conclusion: NPHP1 mutations are the most common in children with NPHP, and the phenotype of NPHP1 mutation is significantly different from that of non-NPHP1 mutation. For NPHP patients with mild to moderate liver fibrosis without portal hypertension, timely treatment of cholestasis could prevent the rapid progress of liver function damage after isolated kidney transplantation.

the Science and Technology Planning Project of Guangdong Province, China (2015B020226002, 2017A020215012). National Natural Science Foundation of China (81870511, 82170770, 31800758). Key Scientific and Technological Program of Guangzhou City (201803040011, 201903010058). Guangdong Provincial Key Laboratory on Organ Donation and Transplant Immunology (2017B030314018, 2020B1212060026). Guangdong Provincial International Cooperation Base of Science and Technology (Organ Transplantation, 2020A0505020003).

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