کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10086880 1605425 2005 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects
چکیده انگلیسی
Alport Syndrome is a genetic disorder characterized by hematuria, which often leads to renal failure. It may also be accompanied by extra-renal alterations, such as: sensorineural hearing loss, and ocular abnormalities. Dominant forms related to the X chromosome and caused by mutations in the locus COL4A5 have been described, as well as an autossomic recessive form resulting from mutations in the locus COL4A3 or COL4A4. An autossomic dominant type of AS has also been reported. The disease is caused by changes in the collagen type IV chains, where symptoms reflect the damage to the basal membrane of several organs. The α3.α4.α5(IV) networks are found in the kidneys, cochlea and eyes. The objective was to characterize AS in this group of patients. In the current literature review it was found that: 1. AS is characterized by hematuria that may develop into renal failure and can also be accompanied by extra-renal manifestations. Hearing loss is a frequent extra-renal finding and one of the first symptoms of AS, therefore representing a relevant factor in the prognosis of the renal disease; 2. It is a genetic disorder resulting from abnormalities in the chains of collagen type IV in the basal membranes; 3. The hearing loss in AS is typically sensorineural with variable intensities, progressive and symmetrical, affecting middle and high frequencies; 4. Otolaryngologists should include a urine test in the SNHL work-up. It is essential to have an otologist involved in the treatment of these patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brazilian Journal of Otorhinolaryngology - Volume 71, Issue 6, November–December 2005, Pages 813-819
نویسندگان
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