Personalized Treatment and Hereditary Causes of Nephrotic Syndrome

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (10 July 2021) | Viewed by 6271

Special Issue Editor


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Guest Editor
Department of Internal Medicine, Division of Nephrology, Investigator, Duke Molecular Physiology Institute (DMPI), DUMC, Box 31108, 300 N. Duke Street, Durham, NC 27701, USA
Interests: kidney; renal genomics; human glomerular disease modeling; focal segmental glomerulosclerosis (FSGS); clinical nephrology; health care

Special Issue Information

Dear Colleagues,

Nephrotic Syndrome (NS) is a major cause of chronic and end-stage kidney disease worldwide. While the mechanisms of NS are not fully understood, advances in renal genetics over the past three decades have highlighted glomerular visceral epithelial cells (i.e., podocytes) as the principal cell type affected in disease pathogenesis. It is now clear that podocyte injury or loss is a necessary precursor of glomerular dysfunction in NS and studies of familial forms of the disease have identified a variety of molecular targets involved in podocyte actin cytoskeletal dynamics, slit diaphragm and basement membrane assembly, calcium transport, mitochondrial energetics, nuclear transport and gene expression and cell cycle regulation. Despite these discoveries, few have translated into potential therapies for NS. In this Special Issue of the Journal of Personalized Medicine entitled “Personalized Treatment and Hereditary Causes of Nephrotic Syndrome,” we will highlight:

  • Emerging technologies for characterizing podocyte biology
  • Novel insights into the mechanisms of podocyte injury
  • Novel model systems for modeling podocyte injury (i.e., ex vivo or in vivo)
  • Novel methods or approaches for high throughput screening of candidate compounds for podocytopathies
  • Exploration of podocyte transcriptomics and proteomics in health and disease to identify novel therapeutic targets

We will be accepting submissions in these areas to assemble a Special Issue focused on the translation of findings in renal genetics into rational therapies for nephrotic syndrome.

Dr. Gentzon Hall
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • nephrotic syndrome (NS)
  • renal genetics
  • podocyte
  • biology
  • mechanisms of podocyte injury
  • transcriptomics and proteomics
  • personalized therapy

Published Papers (2 papers)

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Research

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12 pages, 1139 KiB  
Article
Gender Differences in Genetic Associations of RAB38 with Urinary Protein-to-Creatinine Ratio (UPCR) Levels in Diabetic Nephropathy Patients
by Zhi-Lei Yu, Chung-Shun Wong, Yi Ting Lai, Wan-Hsuan Chou, Imaniar Noor Faridah, Chih-Chin Kao, Yuh-Feng Lin and Wei-Chiao Chang
J. Pers. Med. 2020, 10(4), 184; https://doi.org/10.3390/jpm10040184 - 21 Oct 2020
Cited by 1 | Viewed by 2249
Abstract
Renal dysfunction is common in patients with diabetes mellitus (DM). Previous findings from a meta-analysis of GWAS indicated that the variation of RAB38/CTSC is highly associated with the urinary albumin-to-creatinine ratio (UACR) in European populations. In addition, RAB38 knockout rats showed an increase [...] Read more.
Renal dysfunction is common in patients with diabetes mellitus (DM). Previous findings from a meta-analysis of GWAS indicated that the variation of RAB38/CTSC is highly associated with the urinary albumin-to-creatinine ratio (UACR) in European populations. In addition, RAB38 knockout rats showed an increase in urinary albumins. Although the prevalence of chronic kidney disease is high in Taiwan, the role of genetic variants in diabetic renal function is still unclear. In the current study, 275 diabetic nephropathy (DN) patients were recruited to perform a genetic association study. Our results indicated that rs1027027, rs302647, and rs302646 in RAB38 were significantly associated with urinary protein-to-creatinine ratio (UPCR) levels in DN patients. Importantly, after analysis stratified by gender, a significant genetic influence on UPCR levels was observed in the male population. The findings confirmed the roles of gender and variants of RAB38 in the risk of UPCR in Diabetic Nephropathy patients. Full article
(This article belongs to the Special Issue Personalized Treatment and Hereditary Causes of Nephrotic Syndrome)
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Review

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16 pages, 941 KiB  
Review
Use of Lipid-Modifying Agents for the Treatment of Glomerular Diseases
by Mengyuan Ge, Sandra Merscher and Alessia Fornoni
J. Pers. Med. 2021, 11(8), 820; https://doi.org/10.3390/jpm11080820 - 21 Aug 2021
Cited by 6 | Viewed by 3321
Abstract
Although dyslipidemia is associated with chronic kidney disease (CKD), it is more common in nephrotic syndrome (NS), and guidelines for the management of hyperlipidemia in NS are largely opinion-based. In addition to the role of circulating lipids, an increasing number of studies suggest [...] Read more.
Although dyslipidemia is associated with chronic kidney disease (CKD), it is more common in nephrotic syndrome (NS), and guidelines for the management of hyperlipidemia in NS are largely opinion-based. In addition to the role of circulating lipids, an increasing number of studies suggest that intrarenal lipids contribute to the progression of glomerular diseases, indicating that proteinuric kidney diseases may be a form of “fatty kidney disease” and that reducing intracellular lipids could represent a new therapeutic approach to slow the progression of CKD. In this review, we summarize recent progress made in the utilization of lipid-modifying agents to lower renal parenchymal lipid accumulation and to prevent or reduce kidney injury. The agents mentioned in this review are categorized according to their specific targets, but they may also regulate other lipid-relevant pathways. Full article
(This article belongs to the Special Issue Personalized Treatment and Hereditary Causes of Nephrotic Syndrome)
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