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.

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.

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.

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.

CINCA syndrome; Gene mutation; Clinical phenotype; Treatment outcome