Person:
KAYA, MİTHAT

Profile Picture

Email Address

Birth Date

Research Projects

Organizational Units

OrgUnit Logo
Organizational Unit

Job Title

Last Name

KAYA

First Name

MİTHAT

Name

Filters

20231
Reset filters

Settings

Author: KAYA, HANDAN × Item Type: Publication ×

Search Results

Now showing 1 - 1 of 1
  • Thumbnail Image
    PublicationOpen Access
    Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature
    (2023-01-01) GÖKCE, İBRAHİM; KAYA, MİTHAT; ÇİÇEK DENİZ, NESLİHAN; YILDIZ, NURDAN; KAYA, HANDAN; ALPAY, HARİKA; GÖKCE İ., KAYA M., ÇİÇEK N., Guven S., Ercetin Y., YILDIZ N., KAYA H., ALPAY H.
    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.