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About 42 results

ALLMedicine™ Autosomal Dominant Alport Syndrome Center

Research & Reviews  21 results

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.
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 10th, 2021 - Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to eva...

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 1st, 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...

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 9th, 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 18th, 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...

Alport Syndrome 
https://emedicine.medscape.com/article/238260-print

Dec 29th, 2017 - Practice Essentials The term Alport syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well.[1, 2] See the image below. Electron microgr...

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Clinicaltrials.gov  21 results

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.
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 10th, 2021 - Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to eva...

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 1st, 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...

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 9th, 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 18th, 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...

Alport Syndrome 
https://emedicine.medscape.com/article/238260-print

Dec 29th, 2017 - Practice Essentials The term Alport syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well.[1, 2] See the image below. Electron microgr...

see more →