Analyses of gene mutation, clinical phenotype, treatment and follow up of 10 cases with chronic infantile neurologic, cutaneous, articular syndrome
10.3760/cma.j.issn.1007-7480.2019.08.007
- VernacularTitle:慢性婴儿神经皮肤关节综合征十例基因突变临床表型及治疗随访分析
- Author:
Junmei ZHANG
1
;
Caifeng LI
;
Xiaohua TAN
;
Yurong PIAO
;
Tongxin HAN
;
Weiying KUANG
;
Jiang WANG
;
Jianghong DENG
;
Chao LI
;
Yan LI
Author Information
1. 首都医科大学附属北京儿童医院/国家儿童医学中心风湿科 100045
- Keywords:
CINCA syndrome;
Gene mutation;
Clinical phenotype;
Treatment outcome
- From:
Chinese Journal of Rheumatology
2019;23(8):536-539
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the gene mutation,clinical phenotype,treatment and prognosis of chronic infantile neurologic,cutaneous,articular (CINCA) syndrome,so as to improve the diagnosis rate,reduce the disability rate and teratogenicity rate of CINCA syndrome.Methods Ten children with CINCA syndrome admitted to our hospital were retrospectively analyzed in terms of the clinical phenotypes,auxiliary examinations,treatment and follow-up.Three ml ethylene diamine tetraacetic acid (EDTA) anticoagul-ation was taken from children and their parents with the consents.Genomic DNA was extracted by QIAamp whole blood Deoxynbonucleic acid (DNA) extraction kit (German Qiagen Company).The whole exons were detected by Agilent liquid phase capture technology (Agilent Company).Finally,Sanger sequencing was used to verify the results.Results In this study,eight mutations of NLRP3 gene were found in children with CINCA syndrome,namely 913G/A (D305N),1057G/T(V353L),1702T/A (F568I),1703T/A (F568Y),1710G/C (K570N),1789A/G (S597G),1991T/C (M664T),2269G/A (G757R).The onset age of most of the cases was less than half a month,and the initial manifestation was mainly urticaria-like rash.Short stature and special face could be seen in all 10 cases.All the patients had fever and urticarial rash in varying degrees during the course of the disease.Nine of them had obvious arthritis.Nine children had central nervous system involvement.There were 8 cases of binaural nervous deafness,7 cases of binocular optic neuritis,and 6 cases of hepato-splenomegaly and/or lymphadenopathy.Amyloid A was significantly increased.Glucocorticoids and immunosup-pressive agents are the basic drugs for the treatment of this disease.If the curative effect was not good,biological agents should be added early to alleviate the disease.Conclusion CINCA syndrome is a rare autosomal dominant hereditary disease,the main clinical manifestations of which are skin,joint and central nervous system involvement,and even amyloidosis of organs.Early diagnosis and active treatment can reduce the involvement of important organs.
