COL4A3 mutations cause focal segmental glomerulosclerosis

COL4A3 mutations cause focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable glomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Alport's syndrome (ARAS) patients, and 190 eth...

Mutations in the formin protein INF2 cause focal segmental glomerulosclerosis

Response to COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

We thank Drs. Deltas and Pierides for their comments on our paper1-2. They were concerned that we had failed to refer to their earlier work, which has similarities but also differences with our report. We certainly want to acknowledge the contributions of Dr Deltas and other investigators and apologize for our oversight. We also want to reassure them that we did not intentionally omit or wanted...

Focal Segmental Glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is a leading cause of kidney disease worldwide. The presumed etiology of primary FSGS is a plasma factor with responsiveness to immunosuppressive therapy and a risk of recurrence after kidney transplant-important disease characteristics. In contrast, adaptive FSGS is associated with excessive nephron workload due to increased body size, reduced nephron ...

Idiopathic focal segmental glomerulosclerosis.

Idiopathic focal segmental glomerulosclerosis (FSGS) is a primary glomerular disease that essentially represents a form of chronic, progressive renal fibrosis for which there is no discernible cause. Often presenting with or eventually manifesting the nephrotic syndrome, this disease is increasing in incidence in both children and adults. Therapy continues to be a challenge, although some patie...