Living with X-linked diffuse leiomyomatosis-Alport syndrome
A rare condition combining kidney, hearing, and eye problems with noncancerous muscle overgrowth in the digestive and breathing tracts.
Understanding X-linked diffuse leiomyomatosis-Alport syndrome
Alport syndrome affects the kidney filters, hearing, and eyes. Smooth muscle cells overgrow, without cancer, along the digestive, breathing, and female genital tracts. This can cause trouble swallowing, breathing, coughing, vomiting after meals, chest or upper belly pain, and repeated pneumonia. It can begin from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blood in the urine (hematuria)
- Chronic kidney disease
- Hearing loss from the inner ear
- Trouble swallowing (dysphagia)
- Acid reflux and chest pain
- Cataracts
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alport Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition, and it follows X-linked inheritance. It doesn't name a gene.
Also known as: alport syndrome and diffuse leiomyomatosis; chromosome xq22.3 centromeric deletion syndrome; x-linked alport syndrome-diffuse leiomyomatosis; xq22.3 microdeletion syndrome
Patient organizations
- Alport Syndrome FoundationX-linked diffuse leiomyomatosis-Alport syndrome · United States
- American Association of Kidney PatientsX-linked diffuse leiomyomatosis-Alport syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked diffuse leiomyomatosis-Alport syndrome.
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