[Esophageal leiomyomatosis revealing an Alport syndrome].

Abstract

Alport syndrome is a rare progressive hematuric nephropathy associated with sensorineural deafness. Leiomyomatosis associated with Alport syndrome is quite rare. We report a particular case of Alport syndrome which was diagnosed in the setting of an oesophageal leiomyomatosis. Alport syndrome and leiomyomatosis are caused by mutation of the genes encoding for the alpha chain of type IV collagen. In view of the important clinical and genetic implications, renal function and urinary status should be controlled in any patient with oesophageal leiomyomatosis.

• Authors: K Abbes, L Ayadi, S Makni, M Kharrat, N Affes, R Kallel, N Gouiaa, M Ben Hmida, J Hachicha, M I Beyrouti, T Sellami Boudawara
• Journal: La Revue de medecine interne (Rev Med Interne) Vol. 30 Issue 1 Pg. 88-90 (Jan 2009) ISSN: 0248-8663 [Print] France
• Vernacular Title: Léiomyomatose oesophagienne révélatrice d'un syndrome d'Alport.
• PMID: 18433941 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adult
• Esophageal Neoplasms (complications, diagnosis, genetics, surgery)
• Esophagectomy
• Humans
• Immunohistochemistry
• Leiomyomatosis (complications, diagnosis, genetics, surgery)
• Male
• Mutation
• Nephritis, Hereditary (complications, diagnosis, genetics)
• Pedigree