Renal transplantation in patients with Alport syndrome

CE Kashtan - Pediatric transplantation, 2006 - Wiley Online Library
For pediatric kidney transplant physicians, two aspects of Alport syndrome set the disease
apart from other causes of terminal renal failure. First, an understanding of the genetics of …

Evaluation of gross hematuria

CG Pan - Pediatric Clinics, 2006 - pediatric.theclinics.com
Screening healthy children for abnormalities in the urine has shown that microhematuria is
common and often transient [1, 2]. Evaluation of pediatric patients with persistent, isolated …

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein …

L Papazachariou, P Demosthenous, M Pieri… - PloS one, 2014 - journals.plos.org
Familial glomerular hematuria (s) comprise a genetically heterogeneous group of conditions
which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN) …

Frequent COL4 mutations in familial microhematuria accompanied by later‐onset Alport nephropathy due to focal segmental glomerulosclerosis

L Papazachariou, G Papagregoriou… - Clinical …, 2017 - Wiley Online Library
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group
of conditions including the collagen‐IV nephropathies, the heritable C3/CFHR5 nephropathy …

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

K Rana, S Tonna, YY Wang, L Sin, T Lin, E Shaw… - Pediatric …, 2007 - Springer
Both thin basement membrane nephropathy (TBMN) and autosomal recessive Alport
syndrome result from mutations in the COL4A3 and COL4A4 genes, and this study …

The renal biopsy in the genomic era

H Liapis, JP Gaut - Pediatric Nephrology, 2013 - Springer
Renal biopsy was introduced in the 1950s. By 1980 the pathologic diagnostic criteria for the
majority of medical kidney diseases known today, including pediatric diseases, were …

Causes and outcomes of asymptomatic gross haematuria in children

JH Lee, H Choi, YJ Lee, YS Park - Nephrology, 2014 - Wiley Online Library
Aim Although asymptomatic gross haematuria (GHU) is relatively common in children, its
causes and clinical outcomes are not clearly defined. Methods Children with asymptomatic …

Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families

E Endreffy, Z Ondrik, B Iványi, Z Maróti… - Molecular and cellular …, 2011 - Elsevier
The Col4A3, Col4A4 and Col4A5 collagen type IV genes are found to be mutated in Col IV
nephropathy. In males with a mutation in the Col4A5 gene (X-linked Alport syndrome: XL …

Is genetic testing of healthy pre-symptomatic children with possible Alport syndrome ethical?

L Copelovitch, BS Kaplan - Pediatric Nephrology, 2006 - Springer
Slajpah et al.[1] entitled The importance of non-invasive genetic analysis in the initial
diagnosis of Alport syndrome in young patients. Genetic technology now provides us with …

Difficulties in differentiating thin basement membrane disease from Alport syndrome

J Żurawski, P Burchardt, M Seget, J Moczko… - Polish Journal of …, 2016 - termedia.pl
We examined a group of 83 patients (57 children and 26 adults) with thin basement
membrane disease and 17 patients with Alport syndrome. We compared the clinical data …