CTNS gene mutation leads to cysteine nephropathy combined with corneal crystal in young child
10.3969/j.issn.1000-3606.2016.10.017
- VernacularTitle:CTNS基因突变导致幼儿胱氨酸肾病及角膜结晶
- Author:
Yanyan MA
;
Yanjun SHEN
;
Ling ZHOU
;
Yupeng LIU
;
Dongxiao LI
;
Yuan DING
;
Jinqing SONG
;
Xiyuan LI
;
Yanling YANG
- Publication Type:Journal Article
- Keywords:
cystinosis;
lysosomal storage disease;
nephropathy;
corneal crystal;
CTNS gene
- From:
Journal of Clinical Pediatrics
2016;34(10):783-786
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the diagnosis of cystinosis.Methods The clinical and biochemical information, and gene detection results in a child with cystinosis was retrospective analyzed.Results Four-year-old female presented with photophobia and corneal crystal was found by ophthalmic examination at 2 years old, bilateral kidney stone was found, accompanied by development delay and rickets at 3 years old. Gas chromatography analysis in urine showed that a variety of amino acids were increased, and urine sugar and urinary micro-protein were also increased, which were in accordance with fanconi syndrome. The blood free carnitine was decreased, ester acyl carnitine spectrum was normal, and multi-amino acids such as lysine, valine and arginine were decreased. Gene analysis showed a homozygous mutation of c.696C>G (p.323 N>K) inCTNS gene, which was a known mutation. Both her parents were carrier of heterozygous mutation of c.696C>G inCTNS gene.Conclusion Child with kidney stone, renal damage, combined by multi-system damage such as eyes, bone, and thyroid should be paid attention to identify the cystinosis.
