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Article summary:
1. Focal segmental glomerulosclerosis (FSGS) is a renal histologic lesion characterized by podocyte injury and depletion, which typically presents with proteinuria and nephrotic syndrome (NS).
2. Variants in the TBC1D8B gene on the X chromosome can lead to SRNS or SSNS in boys, and functional studies have found that the encoded protein is involved in endocytosis and recycling of nephrin.
3. This case report describes a 19-year-old Chinese man with adult-onset SDNS who was found to have a novel TBC1D8B variant located in the TBC domain via WES.
Article analysis:
This article provides an interesting case report of a 19-year-old Chinese man with adult-onset SDNS caused by a novel TBC1D8B variant located in the TBC domain. The article is well written and provides detailed information about the patient’s clinical presentation, laboratory tests, kidney biopsy results, and treatment plan. The authors also provide an extensive literature review discussing previous reports of FSGS patients manifesting with NS, genetic causes of SRNS in pediatric patients, and variants in the TBC1D8B gene leading to SRNS or SSNS in boys.
The article appears to be reliable and trustworthy overall; however, there are some potential biases that should be noted. For example, the authors do not discuss any possible risks associated with cyclophosphamide treatment or any other treatments mentioned in the article. Additionally, they do not present both sides equally when discussing previous reports of FSGS patients manifesting with NS; instead they focus mainly on those cases where genetic causes were identified as being responsible for SRNS or SSNS in boys. Furthermore, there is no discussion of unexplored counterarguments or missing points of consideration regarding this particular case study.
In conclusion, this article provides an interesting case report of a 19-year-old Chinese man with adult-onset SDNS caused by a novel TBC1D8B variant located in the TBC domain via WES. While it appears to be reliable overall, there are some potential biases that should be noted such as lack of discussion regarding possible risks associated with treatments mentioned and lack of presenting both sides equally when discussing previous reports of FSGS patients manifesting with NS.