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Familial oesophageal leiomyomatosis and nephropathy

Four female members of the same family suffering from a rare combination of oesophageal leiomyomatosis and an Alport‐like nephropathy are described. The disease is characterized by marked thickening of the oesophageal wall, usually also involving the proximal stomach, with or without discernible leiomyomatous nodule formation. All cases were treated surgically by oesophagectomy with symptomatic relief, and there was no evidence of recurrence on follow‐up (2–37 years). The syndrome appears to be dominantly inherited, affects children and young adults, and may also be associated with leiomyomatosis of other viscera. Previously reported cases and possible aetiologies are reviewed, and evidence that this association represents a new variant of Alport's syndrome is discussed.