Clinical characteristics, treatment and follow-up of Cockayne syndrome with renal involvement
10.3969/j.issn.1000-3606.2018.06.006
- VernacularTitle:肾脏受累的Cockayne综合征临床特点、治疗及随访观察
- Author:
Xiaoyu LIU
1
;
Zezhong TANG
;
Fang WANG
;
Hongwen ZHANG
;
Zhihui CHEN
;
Yong YAO
;
Jie DING
Author Information
1. 北京大学第一医院儿科 北京 100034
- Keywords:
Cockayne syndrome;
nephrotic syndrome;
ERCC8 gene;
prednisone;
cyclosporin
- From:
Journal of Clinical Pediatrics
2018;36(6):424-427
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features, treatment and follow-up of Cockayne syndrome with renal involvement. Method The clinical data of one child with Cockayne syndrome confirmed by gene detection with renal injury were reviewed, and the clinical features of renal involvement in Cockayne syndrome were summarized. Results A male child aged 3 years and 8 months had clinical manifestations of mental retardation, growth retardation, special face and photosensitive dermatitis, and renal involvement was manifested by nephrotic syndrome. Cranial CT showed symmetrically calcification in bilateral basal ganglia. The targeted next generation sequencing results showed homozygous mutations of c.394_398del and p.Leu132Asnfs in ERCC8 gene (NM_000082) of the child, and the same heterozygous mutation was found in both his parents (non-consanguineous marriage). After the diagnosis of nephrotic syndrome, full dose prednisone was given for experimental treatment. The urine protein decreased but did not disappear, which was considered hormone resistance. After 4 months of combined treatment with cyclosporin, the urine protein turned negative. During 20 months of follow-up, urine protein remained negative and renal function remained stable. The renal involvement in Cockayne syndrome was seldomly reported, and its clinical manifestations are heterogeneous. Condusion Renal involvement in Cockayne syndrome may be manifested with nephrotic syndrome which should be noticed.
