Nephrol Dial Transplant (2002) 17: 70-74
© 2002 European Renal Association-European Dialysis and Transplant Association
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy
1 Department of General and Visceral Surgery, Friedrich-Schiller-University Jena, Germany, 2 INSERM U423, Université René Descartes, Hopital Necker, Paris, France, 3 Department of Pediatrics, University Hospital Jena, Germany and 4 Division of Immunology, Shigei Medical Research Institute, Okayama, Japan
Background. The X-linked Alport syndrome (AS) is an inherited nephropathy due to mutations in the COL4A5 gene, encoding the 
5 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 5 and the 6 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
Correspondence and offprint requests to: Dr Henning Mothes, Klinik für Chirurgie, Friedrich-Schiller-Universität Jena, Bachstrasse 18, D-07740 Jena, Germany. Email: Henning.mothes{at}med.uni\|[hyphen]\|jena.de
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