Biomaterial Database

Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. 2013

B T Stew, and S J C Fishpool, and D Owens, and S Quine

Department of ENT Surgery, Singleton Hospital, Swansea, UK. stewb@doctors.org.uk

Muckle-Wells syndrome (MWS) is a rare autosomal dominant condition with variable expression. It is a subset of auto-inflammatory diseases characterised by recurrent inflammatory crises and is associated with chronic recurrent urticaria, sensorineural deafness, periodic arthritis and secondary amyloidosis. The diagnosis of MWS is a clinical one with sufferers classically presenting in childhood with a moderate fever and non-pruiginous urticaria. We describe a case of a six-year-old girl who was successfully diagnosed and treated with Anakinra. Muckle and Wells originally described this syndrome in 1962; however, only recently was it discovered to be genetically linked to chromosome 1q44 and subsequently to missense mutations in the CIAS1/NALP3/PYPAF1 gene. Since then, treatment has evolved and it remains one of few treatable causes of congenital profound sensorineural hearing loss.

UI	MeSH Term	Description	Entries
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006319	Hearing Loss, Sensorineural	Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.	Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001309	Auditory Threshold	The audibility limit of discriminating sound intensity and pitch.	Auditory Thresholds,Threshold, Auditory,Thresholds, Auditory
D053590	Interleukin 1 Receptor Antagonist Protein	A ligand that binds to but fails to activate the INTERLEUKIN 1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.	Anakinra,Antril,IL-1 Inhibitor, Urine,IL-1Ra,IL1 Febrile Inhibitor,Interleukin 1 Inhibitor, Urine,Kineret,Urine-Derived IL1 Inhibitor,Febrile Inhibitor, IL1,IL 1 Inhibitor, Urine,IL1 Inhibitor, Urine-Derived,Urine Derived IL1 Inhibitor,Urine IL-1 Inhibitor
D056587	Cryopyrin-Associated Periodic Syndromes	A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.	CINCA Syndrome,Chronic Infantile Neurological, Cutaneous, and Articular Syndrome,Cryopyrin Associated Periodic Syndrome,Cryopyrinopathy,Familial Cold Autoinflammatory Syndrome,Familial Cold Urticaria,IOMID,Infantile Onset Multisystem Inflammatory Disease,Muckle-Wells Syndrome,Multisystem Inflammatory Disease, Neonatal-Onset,NOMID,Neonatal Onset Multisystem Inflammatory Disease,CINCA,Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome,Chronic Neurologic Cutaneous and Articular Syndrome,Chronic Neurologic, Cutaneous, and Articular Syndrome,Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome,Cold Urticaria, Familial,Cold-Induced Autoinflammatory Syndrome, Familial,FCAS1,Familial Cold Autoinflammatory Syndrome 1,Familial Cold-Induced Autoinflammatory Syndrome,IOMID Syndrome,Prieur-Griscelli Syndrome,UDA Syndrome,Urticaria, Deafness and Amyloidosis,Urticaria-Deafness-Amyloidosis Syndrome,Cold Induced Autoinflammatory Syndrome, Familial,Cryopyrin Associated Periodic Syndromes,Cryopyrin-Associated Periodic Syndrome,Cryopyrinopathies,Familial Cold Induced Autoinflammatory Syndrome,Familial Cold Urticarias,IOMID Syndromes,Muckle Wells Syndrome,Multisystem Inflammatory Disease, Neonatal Onset,Prieur Griscelli Syndrome,Prieur-Griscelli Syndromes,Syndrome, IOMID,Syndrome, Muckle-Wells,Syndrome, Prieur-Griscelli,Syndrome, UDA,Syndrome, Urticaria-Deafness-Amyloidosis,UDA Syndromes,Urticaria Deafness Amyloidosis Syndrome,Urticaria, Familial Cold,Urticaria-Deafness-Amyloidosis Syndromes
D018501	Antirheumatic Agents	Drugs that are used to treat RHEUMATOID ARTHRITIS.	Anti-Rheumatic Agent,Anti-Rheumatic Drug,Antirheumatic Agent,Antirheumatic Disease-Modifying Second-Line Drug,Antirheumatic Drug,DMARD,Disease-Modifying Antirheumatic Drug,Disease-Modifying Antirheumatic Drugs,Anti-Rheumatic Agents,Anti-Rheumatic Agents, Non-Steroidal,Anti-Rheumatic Drugs,Antirheumatic Disease-Modifying Second-Line Drugs,Antirheumatic Drugs,Antirheumatic Drugs, Disease-Modifying,Disease-Modifying, Antirheumatic Second-Line Drugs,Agent, Anti-Rheumatic,Agent, Antirheumatic,Anti Rheumatic Agent,Anti Rheumatic Agents,Anti Rheumatic Agents, Non Steroidal,Anti Rheumatic Drug,Anti Rheumatic Drugs,Antirheumatic Disease Modifying Second Line Drug,Antirheumatic Disease Modifying Second Line Drugs,Antirheumatic Drug, Disease-Modifying,Antirheumatic Drugs, Disease Modifying,Disease Modifying Antirheumatic Drug,Disease Modifying Antirheumatic Drugs,Disease Modifying, Antirheumatic Second Line Drugs,Drug, Anti-Rheumatic,Drug, Antirheumatic,Drug, Disease-Modifying Antirheumatic,Non-Steroidal Anti-Rheumatic Agents