Clinical data and hearing of individuals with Alport syndrome
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چکیده
منابع مشابه
Clinical data and hearing of individuals with Alport syndrome.
UNLABELLED Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times with sensorineural hearing loss and ocular defects. AIM to analyze the clinical and hearing information from individuals with AS, more specifically the correlation between renal disorder and hearing loss (HL). STUDY DESIGN clinical prospective with cross-sectional cohort. MATERIALS AND METHO...
متن کاملAlport syndrome: clinical update.
This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic findings, vestibular findings, the pathophysiology of hearing loss in type III AS, age- and phenotype-specific normative data and concludes with...
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A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem7) were both normal. Renal ultrasound was performed which was also normal and without hydron...
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chain altered distribution in a much higher proportion of patients with X-linked AS [5]. It is our experience that skin biopsy, examined with conventional, and if needed, with confocal microscopy, is able to virtually detect (almost) all cases of X-linked AS [5], thus allowing to avoid or to postpone more invasive and/or expensive diagnostic procedure like renal biopsy and genetic investigation...
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Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, flec...
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ژورنال
عنوان ژورنال: Brazilian Journal of Otorhinolaryngology
سال: 2008
ISSN: 1808-8694
DOI: 10.1016/s1808-8694(15)30140-3