Seltene familiäre Häufung solitärer Ösophagusleiomyome in Verbindung mit progressiver Nephropathie

Zusammenfassung

Diffuse ösophageale Leiomyomatosen in Verbindung mit X-chromosomal vererbter progressiver Nephropathie (Alport-Syndrom) werden in der Literatur vereinzelt beschrieben. Dagegen stellen solitäre Ösophagusleiomyome in diesem Kontext eine Rarität dar. Wir berichten über das Auftreten von solitären Leiomyomen und progressiver Alport-Nephropathie bei 5 Mitgliedern einer Familie, wobei Leiomyome in 4 Generationen derselben Familie auftraten. Zwei Familienangehörige wurden in unserer Klinik operiert. Heredität und Therapiestrategien werden diskutiert.

Abstract

Diffuse esophageal leiomyomatosis associated with X-chromosomal Alport-like nephropathy has been reported by various authors. However, solitary esophageal leiomyomas in combination with Alport-Syndrome are a rare disorder. We report on patients from 4 consecutive generations of one family. Five patients presented with a combination of a solitary leiomyoma and progressive nephropathy. Two of them were operated on at our department.

Ösophagus - Leiomyom - Nephropathie - Alport-Syndrom - Koloninterposition

Esophageal leiomyoma - nephropathy - alport-syndrome - colonic interposition

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