Clinical phenotype and genotype analysis in 9 children with nephronophthisis
10.3760/cma.j.cn441217-20220228-00096
- VernacularTitle:9例肾单位肾痨患儿临床表型及基因型分析
- Author:
Panli LIAO
1
;
Si WANG
;
Gaohong ZHU
;
Chang QI
;
Juanjuan DING
;
Lin HUANG
;
Daojing WANG
;
Xiaowen WANG
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院（武汉市妇幼保健院）肾内科，武汉 430016
- Keywords:
Kidney diseases, cystic;
Ciliopathies;
Genotype;
Nephronophthisis;
NPHP1
- From:
Chinese Journal of Nephrology
2022;38(8):672-677
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate and analyze the clinical phenotypes and genotypes in children diagnosed with nephronophthisis (NPHP), and to provide references for clinical diagnosis.Methods:Clinical data of 9 children with NPHP diagnosed by genetic testing in the Department of Nephrology, Wuhan Children′s Hospital from April 2017 to January 2022 were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:The median onset age was 11.2(3.4, 14.2) years old in 9 patients, including 5 females and 4 males. There were 8 cases of glomerular proteinuria, 8 cases of renal tubular proteinuria, and 7 cases of reduced urinary gravity in 9 patients. All the children had varying degrees of impaired renal function at the time of diagnosis. Seven cases entered chronic kidney disease (CKD) stage 5, 1 case entered CKD stage 3, and 1 case entered CKD stage 4 at the time of diagnosis. All the children had renal ultrasound abnormalities of varying degrees: size change (3/9), echo enhancement (8/9) and cysts (3/9). Extrarenal phenotypes were present in 3 children. Genetic test showed that 6 patients had mutation of NPHP1 gene, 1 patient had mutation of WDR19 gene, 1 patient had mutation of NPHP3 gene and 1 patient had mutation of NPHP5 gene. Conclusions:Deletion mutation of NPHP1 gene is the most common, while NPHP3, NPHP5 and extremely rare WDR19 mutations have also been found in NPHP patients. The clinical manifestations of NPHP are not typical, so it is necessary to find a specific diagnosis method in the early.
