Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (1)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Capria, M.
Right arrow Articles by Fuiano, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Capria, M.
Right arrow Articles by Fuiano, G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nephrol Dial Transplant (2004) 19: 249-251
© ERA–EDTA 2003; all rights reserved

Interesting Case

Double nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease

Maria Capria, Michele Andreucci, Laura Fuiano, Domenico Mancuso, Paola Cianfrone, Nicola Comi, Giuseppe Mazza, Alfredo Caglioti and Giorgio Fuiano

Renal Unit, ‘Magna Graecia’ University of Catanzaro, Italy

Correspondence and offprint requests to: Michele Andreucci, MD, PhD, Via Giacomo Puccini 18, I-80127 Napoli, Italy. Email: andreucci@unicz.it

Keywords: Alport's syndrome; double nucleotidic mutation; end-stage renal disease

The first 10% of the full text of this article appears below.



   Introduction
 
Alport's syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1].

Alport-like syndromes identify a group of diseases characterized by thrombocytopaenia with ‘giant platelets’ and autosomal dominant transmission. Their distinguishing features consist of the presence of nephritis, cataracts, hearing loss or deafness with or without leucocytic intracytoplasmatic inclusions (named ‘Dhole bodies’). This group of diseases includes: the May–Hegglin anomaly, Fechtner syndrome, Sebastian syndrome and Epstein syndrome. Unlike in Alport's syndrome, the genetic mutations linked to this group of disorders are in the human non-muscle myosin IIA . . . [Full Text of this Article]



   Case
 


   Discussion
 

Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?