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.

Schlüsselwörter

Ösophagus - Leiomyom - Nephropathie - Alport-Syndrom - Koloninterposition

Key words

Esophageal leiomyoma - nephropathy - alport-syndrome - colonic interposition

Literatur

• 1 Antignac C, Heidet L. Mutations in alport syndrome associated with diffuse esophageal leiomyomatosis.  Contrib Nephrol. 1996;  117 172-182
• 2 Bonavina L, Segalin A, Rosati R, Pavanello M, Peracchia A. Surgical therapy of esophageal leiomyoma.  J Am Coll Surg. 1995;  181 257-262
• 3 Bourque M D, Spigland N, Bensoussan A L, Collin P P, Saguem M H, Brochu P, Blanchard H, Reinberg O. Esophageal leiomyoma in children: two case reports and review of the literature.  J Pediatr Surg. 1989;  24 1103-1107
• 4 Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld J P, Palcoux J B, Gubler M C, Antignac C. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.  Amer J Hum Gen. 1998;  63 1329-1340
• 5 Cochat P, Guibaud P, Garcia Torres R, Roussel B, Guarner V, Larbre F. Diffuse leiomyomatosis in Alport syndrome.  J Pediatr. 1988;  113 339-343
• 6 Cochat P, Guyot C, Antignac C, Pracros J P, Bouvier R, Chappuis J P, Gilbert-Barness E. Pathological case of the month. Alport syndrome and diffuse leiomyomatosis.  Am J Dis Child. 1993;  147 791-792
• 7 DeMeester T R, Johansson K E, Franze I, Eypasch E, Lu C T, McGill J E, Zaninotto G. Indications, surgical technique, and long-term functional results of colon interposition or bypass.  Ann Surg. 1988;  208 460-474
• 8 Garcia Torres R, Guarner V. Leiomyomatosis of the esophagus, tracheo-bronchi and genitals associated with Alport type hereditary nephropathy: a new syndrome.  Rev Gastroenterol Mex. 1983;  48 163-170
• 9 Garcia Torres R, Orozco L. Alport-leiomyomatosis syndrome: an update.  Am J Kidney Dis. 1993;  22 641-648
• 10 Heidet L, Boye E, Cai Y, Sado Y, Zhang X, Flejou J F, Fekete F, Ninomiya Y, Gubler M C, Antignac C. Somatic deletion of the 5’ ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.  Amer J Pathol. 1998;  152 673-678
• 11 Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper M J, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler M C, Antignac C. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.  Cytogenet Cell Genet. 1997;  78 240-246
• 12 Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould J D, Leppig K A, Proesmans W, Guyot C, Guillot M, Eto T. Deletions of both alpha 5 (IV) and alpha 6 (IV) collagen genes in Alport Syndrome and in Alport syndrome associated with smooth muscle tumours.  Hum Mol Gen. 1995;  4 99-108
• 13 Hodge G B. Esophageal leiomyoma associated with an epiphrenic diverticulum and hiatus hernia.  Am Surg. 1970;  36 538-543
• 14 Lahteenmaki T, Pukander J, Isolauri J, Waris T. Pharyngo-oesophageal reconstruction with free jejunal transplants. New design of the upper anastomosis to improve monitoring of viability of transfer.  Scand J Plast Reconstr Surg Hand Surg. 1992;  26 161-165
• 15 Lonsdale R N, Roberts P F, Vaughan R, Thiru S. Familial oesophageal leiomyomatosis and nephropathy.  Histopathology. 1992;  20 127-133
• 16 Peracchia A, Ancona E, Ruol A, Bardini R, Segalin A, Bonavina L. Use of mini-invasive procedures in esophageal surgery.  Chirurgie. 1992;  118 305-308
• 17 Rabushka L S, Fishman E K, Kuhlman J E, Hruban R H. Diffuse esophageal leiomyomatosis in a patient with Alport syndrome: CT demonstration.  Radiology. 1991;  179 176-178
• 18 Rendina E A, Venuta F, Pesacarmona E O, Facciolo F, Francioni F, DiTolla R, Ricci C. Leiomyoma of the esophagus.  Scand J Thorac Cardiovasc Surg. 1990;  24 79-82
• 19 Roussel B, Birembaut P, Gaillard D, Puchelle J C, D’Albignac G, Pennaforte F, Fandre M. Familial esophageal leiomyomatosis associated with Alport’s syndrome in a 9-year-old.  Helv Paediatr Acta. 1986;  41 359-368
• 20 Schumpelick V, Dreuw B, Ophoff K, Fass J. Esophageal replacement - indications, technique, results.  Leber Magen Darm. 1995;  25 21-26
• 21 Seremetis M G, Lyons W S, DeGuzman V C, Peabody J W. Leiomyomata of the esophagus. An analysis of 838 cases.  Cancer. 1976;  38 2166-2177
• 22 Ueyama T, Guo K J, Hashimoto H, Daimaru Y, Enjoji M. A clinicopathologic and immunohistochemical study of gastrointestinal stromal tumors.  Cancer. 1992;  69 947-955
• 23 Ullal S R. Hypertrophic osteoarthropathy and leiomyoma of the esophagus.  Am J Surg. 1972;  123 356-358
• 24 Watson T J, Peters J H, DeMeester T R. Esophageal replacement for end-stage benign esophageal disease.  Surg Clin North Am. 1997;  77 1099-1113
• 25 Yoshikane H, Tsukamoto Y, Niwa Y, Goto H, Hase S, Maruta S, Shimodaira M, Miyata A. The coexistence of esophageal submucosal tumor and carcinoma.  Endoscopy. 1995;  27 119-123
• 26 Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders S T. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.  Science. 1993;  261 1167-1169