Thin Basement Membrane Disease
(Benign Familial Hematuria)
(See also Overview of Nephritic Syndrome.)
Thin basement membrane disease is a type of nephritic syndrome. It is hereditary and usually transmitted in autosomal dominant fashion. Not all genetic mutations have been characterized, but in some families with thin basement membrane disease there is a mutation in the type IV collagen alpha-4 gene. Prevalence is estimated to be 5 to 9%.
Most patients are asymptomatic and are incidentally noted to have microscopic hematuria on routine urinalysis, although mild proteinuria and gross hematuria are occasionally present. Renal function is typically normal, but a few patients develop progressive renal failure for unknown reasons. Recurrent flank pain, similar to that in immunoglobulin A nephropathy, is a rare manifestation.
Diagnosis is based on family history and findings of hematuria without other symptoms or pathology, particularly if asymptomatic family members also have hematuria. Renal biopsy is unnecessary but is often done as part of a hematuria evaluation. Early on, thin basement membrane disease may be difficult to differentiate from hereditary nephritis because of histologic similarities. Molecular genetic analysis can help differentiate these 2 diseases.
Long-term prognosis is excellent, and no treatment is necessary in most cases. Patients with frequent gross hematuria, flank pain, or proteinuria (eg, urine protein/creatinine ratio of > 0.2) may benefit from ACE inhibitors or ARBs, which may lower intraglomerular pressure.