DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Nephrologic Disease

Thin Basement Membrane Disease (TBMD)

LOW SEVERITY

A benign genetic condition characterized by uniformly thinned glomerular basement membranes on kidney biopsy, causing persistent microscopic hematuria. Also called benign familial hematuria. Usually non-progressive with excellent long-term prognosis.

Global Affected

1.0M

Countries

15

Symptoms

Asymptomatic microscopic hematuria
Occasional gross hematuria (during infections)
No proteinuria or minimal proteinuria
Normal kidney function
Normal blood pressure

Treatment Options

Observation and monitoring
Regular urinalysis
Blood pressure monitoring
Genetic counseling

Risk Factors

1Family history (autosomal dominant)
2COL4A3 or COL4A4 mutations (heterozygous)
3Female sex (may be underdiagnosed in males)

Diagnostic Methods

  • 1Urinalysis (persistent isolated hematuria)
  • 2Kidney biopsy with electron microscopy
  • 3Genetic testing
  • 4Family history assessment

Prognosis

Excellent; non-progressive in vast majority. Kidney function remains normal throughout life. Does not lead to kidney failure.

Prevention

  • Family screening
  • Genetic counseling
  • Differentiation from Alport syndrome

Research Status

No specific treatment required. Regular monitoring to confirm non-progressive course. Differentiation from early Alport syndrome important. Genetic counseling for families.

Sources

  • https://www.kidney.org/atoz/content/thin-basement-membrane-disease
  • https://www.ncbi.nlm.nih.gov/books/NBK542242
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.