Gender characteristics of the clinical manifestations of cardiovascular system involvement in X-linked Alport syndrome

The paper describes a clinical case of a family, in which its 5 members (4 women and 1 man) were found to have the new missence mutation c. 3098G>A, p.(1033D) in the gene encoding the α5-chain of type IV collagen (COL4A5) responsible for the development of X-linked Alport syndrome. At the same time, all the four female carriers were observed to have had kidney injury since infancy (at the age of 3 years), an age progressive glomerular filtration rate reduction to 78 ml/min; proteinuria up to 2 g/day; hypertension, and aortic dilatation (at the level of the ring, sinuses, and ascending aorta). In this family, one man aged 33 years had died from renal failure (DNA diagnosis was not made). The second 26-year-old man with the documented mutation in the clinical picture had proteinuria up to 2.5 g/l, persistent hematuria up to 100 red blood cells in the field of vision; a glomerular filtration rate decrease to 50 ml/min; sensorineural deafness, and cardiovascular abnormalities (dilatation of the left ventricle, ring, sinuses, and ascending aorta; aortic regurgitation, 2 cm; and stable hypertension)