title: Alport syndrome with diffuse leiomyomatosis.
abstract: Alport syndrome (AS) is a hereditary nephropathy with hematuria progressing to end-stage renal failure (ESRF), sensorineural deafness, and specific eye signs (lenticonus, macular flecks, and congenital cataracts). Inheritance is X-linked in about 85% of the cases, caused by different mutations in the COL4A5 gene. Rarely AS is seen in combination with diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract. Characteristically, the patients have deletions of the 5'-end of both the COL4A5 and the COL4A6 genes, respectively. We here present a 9-year-old boy who was admitted because of a newly diagnosed sensorineural deafness. He was born with cataracts and presented symptoms of dysphagia and bronchial irritation in the first year of life. Macroscopic hematuria was first noticed at 2 years during a febrile infection. Since early childhood the boy suffered from severe constipation. Taking together these symptoms, the diagnosis of Alport syndrome with diffuse leiomyomatosis (AS-DL) has to be considered. Genetic analysis demonstrated the predicted deletion of the COL4A5/COL4A6 genes.
authors.affiliation: Institute of Human Genetics, Johann Wolfgang Goethe University Hospital, Frankfurt, Germany.
authors.forename: Martina C
authors.initials: MC
authors.lastname: Anker
authors.forename: Joachim
authors.initials: J
authors.lastname: Arnemann
authors.forename: Katrin
authors.initials: K
authors.lastname: Neumann
authors.forename: Peter
authors.initials: P
authors.lastname: Ahrens
authors.forename: Helga
authors.initials: H
authors.lastname: Schmidt
authors.forename: Rainer
authors.initials: R
authors.lastname: König
mesh_terms: D002648:Child; D024141:Collagen Type IV / Q000235:genetics; D004247:DNA / Q000032:analysis; D017353:Gene Deletion; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000235:genetics; D018231:Leiomyomatosis / Q000150:complications* / Q000235:genetics; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: D024141:Collagen Type IV; D004247:DNA