title: Muckle-Wells syndrome in Chinese patients: a single center case series.
abstract: Muckle-Wells syndrome (MWS) is a rare autoinflammatory disease. This study aimed to report the clinical features and gene variations of the first case series of MWS patients in Chinese population. Four Han Chinese patients were diagnosed with MWS and followed up at our adult clinic for autoinflammatory diseases. All relevant phenotypes and genotypes were collected. All patients were adult male. The median age of disease onset was 4.5 years, and one patient had adult-onset disease. No positive family history was observed. All patients had a remittent disease course. The duration of fever attacks ranged from 0.5 to 7 days. Skin rashes were present in all patients. The other manifestations included polyarthralgia/arthritis (n = 3), oral ulcers (n = 2), conjunctivitis (n = 2), myalgia (n = 2), headache (n = 2), pharyngitis (n = 1), abdominal pain (n = 1), severe sensorineural hearing loss (n = 1), and chronic meningitis with communicating hydrocephalus (n = 1). None of the patients showed evidence of renal amyloidosis. Each patient carried a heterozygous mutation in an NLRP3 gene, including D29V, V70M, T348M, and Q703K, respectively. D29V and V70M variants were novel mutations in exon 1 of NLRP3. All patients had good response to corticosteroids. Our study suggests that MWS could be identified in Chinese population. Our finding of novel mutations in NLRP3 may expand the diversity of MWS.
authors.affiliation: Peking Union Medical College Hospital, Beijing, 100730, China.
authors.forename: Di
authors.initials: D
authors.lastname: Wu
authors.affiliation: Peking Union Medical College Hospital, Beijing, 100730, China. shenmpumch@163.com.
authors.forename: Min
authors.initials: M
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D000328:Adult; D001168:Arthritis / Q000209:etiology; D044466:Asian People / Q000235:genetics*; D002681:China; D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics*; D005076:Exanthema / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein / Q000235:genetics*; D019226:Oral Ulcer / Q000209:etiology; D010641:Phenotype; D055815:Young Adult
chemical_list: D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human
keywords: Autoinflammatory disease; Cryopyrin-associated periodic syndrome; Muckle-Wells syndrome; NLRP3