X-linked diffuse leiomyomatosis-Alport syndrome

X-linked diffuse leiomyomatosis-Alport syndrome is a rare condition that affects the kidneys and other parts of the body. It is defined by the association of X-linked Alport syndrome, which includes kidney problems, hearing loss, and vision issues, with benign growths of smooth muscle cells in organs such as the gastrointestinal tract, respiratory tract, and female genital tract. People with this condition may experience complex symptoms due to the combination of kidney issues and the proliferation of smooth muscle cells. This dual nature of the condition makes it important to carefully evaluate problems with swallowing, breathing, and other related symptoms.

Common signs and symptoms include difficulty swallowing (dysphagia), breathing problems including shortness of breath (dyspnea), cough, and a high-pitched sound during breathing (stridor). People may also experience pain behind the breastbone or in the upper stomach area, post-meal vomiting, and recurrent pneumonia. In females, the condition can lead to clitoral hypertrophy (enlargement of the clitoral tissue).

The condition is linked to changes on the X chromosome. It is associated with X-linked Alport syndrome and involves a microdeletion in a specific region (Xq22.3), which affects both kidney function and the growth of smooth muscle cells in various organs. This genetic change explains the complex presentation of both kidney-related issues and benign muscle growths.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.