

X-linked Alport syndrome with diffuse leiomyomatosis
https://doi.org/10.25557/2073-7998.2025.04.14-17
Abstract
Diffuse leiomyomatosis is a rare disorder that is associated with X-linked Alport syndrome in most cases. The prevalence of X-linked Alport syndrome with diffuse leiomyomatosis is unknown (less than 50 clinical cases have been published to date). The disease is resulting from contiguous deletions of COL4A5 and COL4A6. Therefore, the clinical manifestations and prognosis of patients are determined by the combination of X-linked Alport syndrome and leiomyomatosis. We describe the case of Caucasian female patient with a lifelong history of microhematuria and persistent cough and dysphagia that developed at age 9. A chest Х-ray revealed mediastinal mass. A computed tomography scan of the chest and abdomen and esophagoduodenoscopy showed marked irregular parietal thickening of the esophagus and cardia with dilatation of the upper regions of the esophagus corresponding to diagnosis of diffuse leiomyomatosis. No indications for surgical intervention of leiomiomatosis were identified. The Alport syndrome genes panel was negative. Whole genome sequencing has revealed contiguous deletions of genes COL4A5 and COL4A6. The patient had albuminuria; no sensorineural hearing loss was detected. Herein, we highlight the importance of genetic testing to determine the management (including multidisciplinary approach) and prognosis (including familial) of the patient, as well as the need for an individual approach to the choice of genetic method.
About the Authors
M. E. AksenovaRussian Federation
Marina E. Aksenova
2, Taldomskya st., Moscow, 125412
N. M. Zaikova
Russian Federation
2, Taldomskya st., Moscow, 125412,
1, Ostrovityanova st., Moscow, 117513
N. A. Alekseeva
Russian Federation
1, Ostrovityanova st., Moscow, 117513
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Review
For citations:
Aksenova M.E., Zaikova N.M., Alekseeva N.A. X-linked Alport syndrome with diffuse leiomyomatosis. Medical Genetics. 2025;24(4):14-17. (In Russ.) https://doi.org/10.25557/2073-7998.2025.04.14-17