Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.
PMID 38231721 | DOI 10.4103/1319-2442.393999 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2023
Collapsing glomerulopathy (CG) is a proliferative disease characterized by segmental or global wrinkling of the glomerular basement membrane and the formation of pseudocrescents, whereas focal segmental glomerulosclerosis (FSGS) is characterized by podocytopenia, and focal and segmental sclerosis of the glomeruli. Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients. The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date. Here, we present the case of a 17-year-old male patient with a collapsing variant of familial FSGS caused by a mutation in TRPC6 (p.R895C) who presented with rapidly progressive (crescentic) and proliferative glomerulonephritis.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TRPC6 | “Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature.” | 0.98 | hgnc_dict_v1 |
| gene | NPHS1 | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| gene | NPHS2 | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| gene | WT1 | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| gene | PLCE1 | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| gene | CD2AP | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| gene | ACTN4 | “Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients.” | 0.98 | hgnc_dict_v1 |
| variant | p.R895C | “The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date.” | 0.95 | hgvs_regex_v1 |
| variant | p.R895L | “The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date.” | 0.95 | hgvs_regex_v1 |