ALLMedicine™ Autosomal Dominant Alport Syndrome Center
Research & Reviews 10 results
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...
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...
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 ...
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...
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...