Journal Article

Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

Henning Mothes, Laurence Heidet, Christelle Arrondel, Konrad Klaus Richter, Mariana Thiele, Ludwig Patzer, Yoshikazu Sado, Marie‐Claire Gubler, Corinne Antignac and Johannes Scheele

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 17, issue 1, pages 70-74
Published in print January 2002 | ISSN: 0931-0509
Published online January 2002 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/17.1.70
Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

Show Summary Details

Preview

Background. The X‐linked Alport syndrome (AS) is an inherited nephropathy due to mutations in the COL4A5 gene, encoding the α5 chain of type IV collagen, a major component of the glomerular basement membrane (GBM). Here, we report a new kindred with the rare association of X‐linked AS and diffuse leiomyomatosis (DL), which is a tumourous process involving smooth muscle cells of the oesophagus, the tracheobronchial tree and, in females, the genital tract. For this syndrome, an almost constant association of large COL4A5 rearrangements with a severe juvenile form of nephropathy has been described for male patients.

Methods. DNA rearrangement at the COL4A5‐COL4A6 locus was studied in several members of this family using polymerase chain reaction and pulsed field gel electrophoresis. Furthermore, immunohistochemical staining of tumour and skin samples was performed.

Results. The affected patients in this family carry a 120 kb deletion by which the COL4A5 exon 1 and COL4A6 exons 1, 1′, and 2 are removed. Immunohistochemical investigation of a skin biopsy of an affected male patient confirmed the absence of both the α5 and the α6 chains of type IV collagen in the basement membrane of the skin. Surprisingly, both affected male patients had a rather mild renal phenotype.

Conclusions. This report shows that, contrary to what has been reported to date, patients suffering from AS associated with DL can be associated with a late onset renal failure (adult) form of nephropathy.

Keywords: adult type nephropathy; Alport syndrome; COL4A5‐COL4A6 deletion; diffuse leiomyomatosis; DNA analysis

Journal Article.  2631 words.  Illustrated.

Subjects: Nephrology

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.