Biomaterial Database

[Deafness in the Muckle-Wells syndrome]. 1976

F Legent, and A Prost, and C Beauvillain, and B Wallez, and J R Gallois

Typical of the syndrome described by Muckle and Wells is a combination of progressive perceptive deafness appearing at various ages in a family, but usually at the same age in the same family, arthralgia, urticarious eruption and renal amyloidosis. The existence of incomplete forms, either without deafness or without renal amyloidosis should be known. This perceptive deafness is very probably due to lesion of the internal ear but the histological characteristics do not seem to be very clear at the present time. Finally, as certain of our observations show, in a few cases, conduction may be impaired, either in isolation, or associated with impairment of perception. Only an analysis of a large number of cases will enable the audiological characteristics of this curious syndrome to be defined.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009394	Nephritis, Hereditary	A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.	Alport's Syndrome,Nephritis, Familial,Alport Syndrome,Alport Syndrome, Autosomal Dominant,Alport Syndrome, Autosomal Recessive,Alport Syndrome, X-Linked,Congenital Hereditary Hematuria,Hematuria-Nephropathy-Deafness Syndrome,Hematuric Hereditary Nephritis,Hemorrhagic Familial Nephritis,Hemorrhagic Hereditary Nephritis,Hereditary Familial Congenital Hemorrhagic Nephritis,Hereditary Hematuria Syndrome,Hereditary Interstitial Pyelonephritis,Hereditary Nephritis,Alport Syndrome, X Linked,Familial Nephritis,Hematuria Nephropathy Deafness Syndrome,Hematuria, Congenital Hereditary,Nephritis, Hematuric Hereditary,Nephritis, Hemorrhagic Familial,Nephritis, Hemorrhagic Hereditary,Pyelonephritis, Hereditary Interstitial,Syndrome, Alport,Syndrome, Hematuria-Nephropathy-Deafness,X-Linked Alport Syndrome
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003638	Deafness	A general term for the complete loss of the ability to hear from both ears.	Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014581	Urticaria	A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.	Hives,Urticarial Wheals,Urticarial Wheal,Urticarias,Wheal, Urticarial,Wheals, Urticarial