Clinical features and TTC21B genotype of a child with nephronophthisis type 12.
- Author:
Shan JIAN
1
;
Qi-Jiao WEI
;
Yu-Tong LIU
;
Wei WANG
;
Yu ZHOU
;
Mei-Ying QUAN
;
Yan-Yan HE
;
Hong-Mei SONG
;
Min WEI
Author Information
1. Department of Pediatrics, Peking Union Medical College Hospital, Beijing 100730, China. pumch_wm@126.com.
- Publication Type:Case Reports
- MeSH:
Child, Preschool;
Female;
Genotype;
Humans;
Kidney;
Kidney Diseases, Cystic;
Kidney Failure, Chronic;
Microtubule-Associated Proteins;
genetics;
Mutation;
Nephrosis;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(6):580-584
- CountryChina
- Language:Chinese
-
Abstract:
Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.
