Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy

Clifford E. Kashtan

Research output: Contribution to journalReview articlepeer-review

46 Scopus citations


Purpose of review: Recent molecular genetic studies have shown that mutations in type IV collagen account for a significant proportion of patients with persistent glomerular hematuria. This review will discuss the implications of these findings for the diagnosis and management of persistent glomerular hematuria. Recent findings: Type IV collagen mutations are associated with a continuum of disease severity. Heterozygous mutations typically cause isolated, nonprogressive hematuria. Mutations in both alleles of the autosomal type IV collagen genes, or hemizygous mutations in the X-linked gene encoding the α5 chain of type IV collagen, result in progressive renal disease that is often associated with sensorineural deafness (Alport syndrome). Animal models of Alport syndrome have begun to provide insights into the pathogenesis of end-stage renal disease in Alport syndrome, with potentially important implications for therapy. Summary: Recognition that glomerular hematuria frequently has a genetic bas s is important for accurate genetic counseling, early identification of individuals at risk for end-stage renal disease development, and institution of therapies to delay the onset of ESRD.

Original languageEnglish (US)
Pages (from-to)177-181
Number of pages5
JournalCurrent Opinion in Pediatrics
Issue number2
StatePublished - Apr 1 2004


  • Alport syndrome
  • Thin basement membrane nephropathy

Fingerprint Dive into the research topics of 'Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy'. Together they form a unique fingerprint.

Cite this