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Muscular hypertrophy of the oesophagus and “Alport-like” glomerular lesions in a boy |
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| Authors: | E. Legius W. Proesmans B. Van Damme K. Geboes T. Lerut E. Eggermont |
| Affiliation: | (1) Department of Paediatrics, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium;(2) Department of Pathology, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium;(3) Department of Surgery, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium |
| Abstract: | A patient with idiopathic muscular hypertrophy of the oesophagus, bilateral cataracts and an Alport-like nephropathy is described. Only 15 patients with a similar association have been described so far and autosomal dominant inheritance is most likely. |
| Keywords: | Alport syndrome Oesophageal muscular hypertrophy Leiomyomatosis Glomerulonephritis Autosomal dominant inheritance |
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