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Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 19515

Special Issue Editor

Prof. Dr. Gianluigi Zaza

E-Mail Website
Guest Editor
Nephrology, Dialysis and Transplantation Unit, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende, Italy
Interests: clinical nephrology; hemodialysis; kidney transplantation; dialysis; chronic renal failure; transplantation; renal; kidney; chronic kidney failure; peritoneal dialysis; renal disease; kidney disease; fibrosis; transplant immunology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare kidney diseases comprise a group of 150 different life-threatening or chronically debilitating disorders (e.g., Fabry Disease, autosomal recessive polycystic disease, medullary cystic disease, Alport Syndrome, primary hyperoxaluria, primary glomerulonephritis, systemic vasculitis, and familial/recurrent hemolytic uremic syndrome) that affect very small numbers of people (<1 in 2000 individuals in Europe and <200,000 in USA) with local or systemic manifestations. For several years, research and development of treatments in this field have been neglected in favor of more common diseases. The main reasons of the lack of interest in rare kidney diseases seem to be the small numbers of patients and limited epidemiological data on the natural history of many of these diseases.

Rare diseases can affect people differently. Even patients with the same condition can exhibit very different signs and symptoms, or there may be many subtypes of the same condition. This diversity constitutes a significant challenge to healthcare practitioners and scientists alike in terms of being able to acquire sufficient experience for the most appropriate and timely definition, diagnosis, and management.

Fortunately, in the last ten years, concerted efforts have led to a marked improvement in the understanding of these disorders. In particular, an important step forward has been taken with the employment of innovative technologies (including next-generation sequencing) in order to replace obsolete phenotypic classifications and to discover new useful diagnostic biomarkers. These new tools are in fact becoming part of routine clinical practice, increasing diagnostic accuracy and facilitating genetic counseling.

Moreover, biomedical research, providing insights into the pathologies of these rare diseases and elucidating their underlying mechanisms, is revealing new therapeutic avenues and driving the industry to develop safer and more effective orphan drugs.

Finally, in this field, it is desirable that in future, the cross-talk between basic scientists and clinicians could achieve a great clinical benefit also by improving the quality of life of these patients.

This Special Issue welcomes scientific contributions and critical reviews describing new pathogenetic insights, reporting novel and specific disease biomarkers and underlying new pharmacological targets or therapies for rare diseases of the kidney and urinary tract.

Prof. Dr. Gianluigi Zaza
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • Rare kidney diseases
  • new diagnostic biomarkers
  • selection of novel therapeutic targets for rare and complex kidney disorders
  • pharmacogenomics/genetics

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Related Special Issue

Published Papers (4 papers)

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Research

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14 pages, 748 KiB  
Article
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
by Sanne J. van der Veen, Wytze J. Vlietstra, Laura van Dussen, André B.P. van Kuilenburg, Marcel G. W. Dijkgraaf, Malte Lenders, Eva Brand, Christoph Wanner, Derralynn Hughes, Perry M. Elliott, Carla E. M. Hollak and Mirjam Langeveld
Int. J. Mol. Sci. 2020, 21(16), 5784; https://doi.org/10.3390/ijms21165784 - 12 Aug 2020
Cited by 13 | Viewed by 3581
Abstract
Fabry Disease (FD) is a rare, X-linked, lysosomal storage disease that mainly causes renal, cardiac and cerebral complications. Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A is available, but approximately 50% of male patients with classical FD develop inhibiting anti-drug antibodies (iADAs) that [...] Read more.
Fabry Disease (FD) is a rare, X-linked, lysosomal storage disease that mainly causes renal, cardiac and cerebral complications. Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A is available, but approximately 50% of male patients with classical FD develop inhibiting anti-drug antibodies (iADAs) that lead to reduced biochemical responses and an accelerated loss of renal function. Once immunization has occurred, iADAs tend to persist and tolerization is hard to achieve. Here we developed a pre-treatment prediction model for iADA development in FD using existing data from 120 classical male FD patients from three European centers, treated with ERT. We found that nonsense and frameshift mutations in the α-galactosidase A gene (p = 0.05), higher plasma lysoGb3 at baseline (p < 0.001) and agalsidase beta as first treatment (p = 0.006) were significantly associated with iADA development. Prediction performance of a Random Forest model, using multiple variables (AUC-ROC: 0.77) was compared to a logistic regression (LR) model using the three significantly associated variables (AUC-ROC: 0.77). The LR model can be used to determine iADA risk in individual FD patients prior to treatment initiation. This helps to determine in which patients adjusted treatment and/or immunomodulatory regimes may be considered to minimize iADA development risk. Full article
(This article belongs to the Special Issue Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy 2.0)
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Review

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11 pages, 747 KiB  
Review
TAFRO Syndrome with Renal Thrombotic Microangiopathy: Insights into the Molecular Mechanism and Treatment Opportunities
by Kun-Hua Tu, Pei-Yi Fan, Tai-Di Chen, Wen-Yu Chuang, Chao-Yi Wu, Cheng-Lung Ku, Ya-Chung Tian, Chih-Wei Yang, Ji-Tseng Fang and Huang-Yu Yang
Int. J. Mol. Sci. 2021, 22(12), 6286; https://doi.org/10.3390/ijms22126286 - 11 Jun 2021
Cited by 5 | Viewed by 3908
Abstract
TAFRO syndrome is an extremely rare form of idiopathic MCD, characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis on bone marrow biopsy, and organomegaly. Like idiopathic MCD, renal involvement is also a common presentation in patients with TAFRO syndrome. Furthermore, membranoproliferative glomerulonephritis (MPGN)-like injury [...] Read more.
TAFRO syndrome is an extremely rare form of idiopathic MCD, characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis on bone marrow biopsy, and organomegaly. Like idiopathic MCD, renal involvement is also a common presentation in patients with TAFRO syndrome. Furthermore, membranoproliferative glomerulonephritis (MPGN)-like injury and thrombotic microangiopathy (TMA) are the most reported histopathologic findings of renal biopsy. Several molecular mechanisms have been previously postulated in order to explain the TAFRO syndrome symptoms, including abnormal production of interleukin-6 (IL-6), vascular endothelial growth factor (VEGF), etc. The role of these cytokines in renal injury, however, is not well understood. The aim of this review article is to summarize the latest knowledge of molecular mechanisms behind the TAFRO syndrome and their potential role in renal damage. Full article
(This article belongs to the Special Issue Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy 2.0)
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15 pages, 8909 KiB  
Review
The Controversial Role of Fibrosis in Autosomal Dominant Polycystic Kidney Disease
by Maria Fragiadaki, Fiona M. Macleod and Albert C. M. Ong
Int. J. Mol. Sci. 2020, 21(23), 8936; https://doi.org/10.3390/ijms21238936 - 25 Nov 2020
Cited by 14 | Viewed by 4200
Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the progressive growth of cysts but it is also accompanied by diffuse tissue scarring or fibrosis. A number of recent studies have been published in this area, yet the role of fibrosis in ADPKD [...] Read more.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the progressive growth of cysts but it is also accompanied by diffuse tissue scarring or fibrosis. A number of recent studies have been published in this area, yet the role of fibrosis in ADPKD remains controversial. Here, we will discuss the stages of fibrosis progression in ADPKD, and how these compare with other common kidney diseases. We will also provide a detailed overview of some key mechanistic pathways to fibrosis in the polycystic kidney. Specifically, the role of the ‘chronic hypoxia hypothesis’, persistent inflammation, Transforming Growth Factor beta (TGFβ), Janus Kinase/Signal Transducers and Activators of Transcription (JAK/STAT) and microRNAs will be examined. Evidence for and against a pathogenic role of extracellular matrix during ADPKD disease progression will be provided. Full article
(This article belongs to the Special Issue Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy 2.0)
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35 pages, 1579 KiB  
Review
An Overview of In Vivo and In Vitro Models for Autosomal Dominant Polycystic Kidney Disease: A Journey from 3D-Cysts to Mini-Pigs
by Svenja Koslowski, Camille Latapy, Pierrïck Auvray, Marc Blondel and Laurent Meijer
Int. J. Mol. Sci. 2020, 21(12), 4537; https://doi.org/10.3390/ijms21124537 - 25 Jun 2020
Cited by 14 | Viewed by 7218
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable cause of end stage renal disease and, as of today, only a single moderately effective treatment is available for patients. Even though ADPKD research has made huge progress over the last decades, [...] Read more.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable cause of end stage renal disease and, as of today, only a single moderately effective treatment is available for patients. Even though ADPKD research has made huge progress over the last decades, the precise disease mechanisms remain elusive. However, a wide variety of cellular and animal models have been developed to decipher the pathophysiological mechanisms and related pathways underlying the disease. As none of these models perfectly recapitulates the complexity of the human disease, the aim of this review is to give an overview of the main tools currently available to ADPKD researchers, as well as their main advantages and limitations. Full article
(This article belongs to the Special Issue Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy 2.0)
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