ReviewPediatric nephrology (Berlin, Germany)2012
The role of molecular genetics in diagnosing familial hematuria(s).
Review in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Haematuria on the Spanish Registry of Glomerulonephritis.Scientific reports · 2016Trial
- Chronic kidney disease progression in glomerular diseases: is hematuria a key risk factor?Pediatric nephrology (Berlin, Germany) · 2026Review
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- A novel variant in theAdvances in laboratory medicine · 2021Article
- Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history.European journal of medical research · 2021Article
- Glomerular Hematuria: Cause or Consequence of Renal Inflammation?International journal of molecular sciences · 2019Review
- Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Molecular medicine reports · 2018Article
- Article
- Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Pediatric nephrology (Berlin, Germany) · 2016Article
- Haematuria as a risk factor for chronic kidney disease progression in glomerular diseases: A review.Pediatric nephrology (Berlin, Germany) · 2016Review
- Pathogenesis of glomerular haematuria.World journal of nephrology · 2015Review
- Observational
- Article
- Article
- Estimated glomerular filtration rate and daily amount of urinary protein predict the clinical remission rate of tonsillectomy plus steroid pulse therapy for IgA nephropathy.Clinical and experimental nephrology · 2014Article
- Evidence for activation of the unfolded protein response in collagen IV nephropathies.Journal of the American Society of Nephrology : JASN · 2014Article
- The blind kidney: disorders affecting kidneys and eyes.Pediatric nephrology (Berlin, Germany) · 2013Review
- The renal biopsy in the genomic era.Pediatric nephrology (Berlin, Germany) · 2013Review
- How benign is hematuria? Using genetics to predict prognosis.Pediatric nephrology (Berlin, Germany) · 2013Review
- Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial microscopic hematuria (MH) of glomerular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and our ability to use molecular genetics for diagnosing such patients, enabling us to study their clinical characteristics over time. Three collagen IV genes, COL4A3, COL4A4, and COL4A5 explain the autosomal and X-linked forms of Alport syndrome (AS), and a subset of thin basement membrane nephropathy (TBMN). A number of X-linked AS patients follow a milder course reminiscent of that of patients with heterozygous COL4A3/COL4A4 mutations and TBMN, while at the same time a significant subset of patients with TBMN and familial MH progress to chronic kidney disease (CKD) or end-stage kidney disease (ESKD). A mutation in CFHR5, a member of the complement factor H family of genes that regulate complement activation, was recently shown to cause isolated C3 glomerulopathy, presenting with MH in childhood and demonstrating a significant risk for CKD/ESKD after 40 years old. Through these results molecular genetics emerges as a powerful tool for a definite diagnosis when all the above conditions enter the differential diagnosis, while in many at-risk related family members, a molecular diagnosis may obviate the need for another renal biopsy.
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Registered trials
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