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ALLMedicine™ Autosomal Dominant Alport Syndrome Center

Research & Reviews  10 results

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
https://doi.org/10.1053/j.ajkd.2021.02.326
American Journal of Kidney Diseases : the Official Journa... Furlano M, Martínez V et. al.

Apr 11th, 2021 - Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to eval...

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371658
Clinical and Experimental Nephrology; Imafuku A, Nozu K et. al.

Apr 2nd, 2020 - Both thin basement membrane nephropathy (TBMN) and autosomal dominant Alport syndrome (ADAS) are types of hereditary nephritis resulting from heterozygous mutations in COL4A3 or COL4A4 genes. Although TBMN is characterized by hematuria and thinnin...

Thin basement membrane nephropathy (benign familial hematuria)
https://www.uptodate.com//contents/thin-basement-membrane-nephropathy-benign-familial-hematuria
Clifford E Kashtan

INTRODUCTION Thin basement membrane nephropathy (TBMN; also called thin basement membrane disease) is considered a relatively common disorder [ 1 ]. In most patients, the only abnormal finding on renal biopsy is diffuse thinning of the glomerular ...

The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a...
https://doi.org/10.1159/000488163
Cytogenetic and Genome Research; Li A, Cui YX et. al.

May 10th, 2018 - Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autoso...

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Ki...
https://doi.org/10.1159/000486979
Cytogenetic and Genome Research; Li A, Gao EZ et. al.

Apr 19th, 2018 - Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from...

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