Literature DB >> 7696680

Alport syndrome: clinical update.

D C Wester1, C L Atkin, M C Gregory.   

Abstract

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 a discussion regarding future auditory-genetic research with AS.

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Year:  1995        PMID： 7696680

Source DB:  PubMed          Journal:  J Am Acad Audiol        ISSN： 1050-0545            Impact factor:   1.664


  9 in total

1.  A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Authors:  D F Barker; C J Pruchno; X Jiang; C L Atkin; E M Stone; J C Denison; P R Fain; M C Gregory
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 2.  Hearing loss and renal syndromes.

Authors:  Paul J Phelan; Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2017-11-12       Impact factor: 3.714

3.  Osteopontin deficiency ameliorates Alport pathology by preventing tubular metabolic deficits.

Authors:  Wen Ding; Keyvan Yousefi; Stefania Goncalves; Bradley J Goldstein; Alfonso L Sabater; Amy Kloosterboer; Portia Ritter; Guerline Lambert; Armando J Mendez; Lina A Shehadeh
Journal:  JCI Insight       Date:  2018-03-22

4.  Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome.

Authors:  J H Miner; J R Sanes
Journal:  J Cell Biol       Date:  1996-12       Impact factor: 10.539

5.  X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Authors:  Xiao Zhang; Yanqin Zhang; Yanmei Zhang; Hongbo Gu; Zhe Chen; Lei Ren; Xingxing Lu; Li Chen; Fang Wang; Yuhe Liu; Jie Ding
Journal:  Orphanet J Rare Dis       Date:  2018-12-22       Impact factor: 4.123

6.  Alport's Syndrome: A Rare Clinical Presentation with Crescents.

Authors:  Ishani Haldar; Tarun Jeloka
Journal:  Indian J Nephrol       Date:  2020-02-07

Review 7.  Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects.

Authors:  Fátima R A Alves; Fernando de A Quintanilha Ribeiro
Journal:  Braz J Otorhinolaryngol       Date:  2005 Nov-Dec

Review 8.  Diagnosis routine and approach in genetic sensorineural hearing loss.

Authors:  Fatima Regina Abreu Alves; Fernando de Andrade Quintanilha Ribeiro
Journal:  Braz J Otorhinolaryngol       Date:  2007 May-Jun

9.  Clinical data and hearing of individuals with Alport syndrome.

Authors:  Fatima Regina Abreu Alves; Fernando de Andrade Quintanilha Ribeiro
Journal:  Braz J Otorhinolaryngol       Date:  2008 Nov-Dec
  9 in total

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