Alport's Syndrome-A Case Report- / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
; : 1333-1337, 1997.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-645540
Biblioteca responsável:
WPRO
ABSTRACT
Alport's syndrome is a genetic disorder of basement membranes manifested by a progressive nephropathy and sensorineural hearing loss and ocular lesions. Type 4 collagen, main component of basement membranes, is composed of six genetically distinct chains. Mutation of gene COL4A5 which encodes the 5 chain of type IV collagen may prevent the normal incorporation of 3 and 4 into basement membranes. Main clinical features of this syndrome are hematuria, sensorineural hearing loss, ocular abnormalities including lenticonus and cataract. The characteristics of audiological manifestations are bilateral moderate sensorineural hearing loss with recruitment phenomenon and normal latencies of waves in brain stem evoked response audiometry. We recently experienced a case of Alport's syndrome in 10 year old male patient with sensori-neural hearing loss and esophageal achalasia. We report this case with review of literatures.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Audiometria de Resposta Evocada
/
Membrana Basal
/
Catarata
/
Tronco Encefálico
/
Acalasia Esofágica
/
Colágeno
/
Colágeno Tipo IV
/
Perda Auditiva
/
Perda Auditiva Neurossensorial
/
Hematúria
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Ano de publicação:
1997
Tipo de documento:
Artigo