| Title | Claps | Level | Year | L/Y |
|---|---|---|---|---|
|
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review.
15 auth. Zhengying Fang, Chunli Zhang, Yuanmeng Jin, Jun Tong, Jian Liu, Xu Hao, Qinjie Weng, Shuwen Yu, Wen Du, Yikai Cai, ...
Focal and segmental glomerulosclerosis (FSGS) is a histological lesion due to many causes including rare mutations of podocyte related genes. Recently, it has been found that TBC1D8B mutations can lead to early-onset FSGS and steroid-resistant nephr…
Focal and segmental glomerulosclerosis (FSGS) is a histological lesion due to many causes including rare mutations of podocyte related genes. Recently, it has been found that TBC1D8B mutations can lead to early-onset FSGS and steroid-resistant nephrotic syndrome (NS) by influencing endocytic and recycling of nephrin. Here, we report a 19-year-old Chinese patient with NS and normal renal function. He had a complete remission of NS after full-dose prednisone and cyclosporine treatment. Unfortunately, a relapse of NS occurred during prednisone tapering. FSGS was proven by a renal biopsy and a hemizygous pathogenic mutation located in TBC domain of TBC1D8B was detected by whole exome sequencing (WES). By a literature review, we summarized the genotype-phenotype correlation among all the probands with TBC1D8B mutations. To our knowledge, this is the first report identifying a pathogenetic mutation located in TBC domain of TBC1D8B in an adult-onset FSGS patient with steroid dependent NS. With this report, we broaden the clinical and genetic spectrum of X-linked genetic FSGS.
Published in
American Journal of Kidney Diseases
|
0
|
2 | 2022 |
Social Media Posts