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X-linked diffuse leiomyomatosis-Alport syndrome
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.
Prevalence is estimated at 1 per million.
Alport syndrome (AS) is defined by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosisis is characterized by benign smooth muscle cell proliferation. Esophagus lesions are responsible for dysphagia, retro-sternal pain and are evidenced by radiographic examinations. Tracheobronchial lesions lead to dyspnea and complications during anesthesias. Affected females typically show clitoral and vulvar hypertrophy.
Diffuse leiomyomatosis with Alport syndrome is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable.
Management and treatment
Adult patients retain some hearing capacity, although some of them require a hearing aid. Both hemodialysis and peritoneal dialysis are used to treat patients with end-stage renal failure. Kidney transplantation in AS patients is usually successful, but some authors have reported that about 10% of transplanted patients develop nephritis in the graft. Management of leiomyomatosis can include surgical and hormonal treatment.
- Guidance for genetic testing
- English (2011, pdf)