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Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes
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Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Nephrology & Urology".

Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 17016

Special Issue Editor

Prof. Dr. Shigeo Horie

E-Mail Website
Guest Editor
Department of Urology, Juntendo University Graduate School of Medicine, Tokyo 113-8431, Japan
Interests: prostate cancer; robotic surgery; genetics; digital therapeutics; testosterone
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, with 12 million patients globally. PKD1 and 2 have been identified as the genes responsible for ADPKD. About half of ADPKD patients require kidney replacement therapy (KRT) by the age of 70. Patients have anxiety concerning the inherited effects on their families and the need for KRT.

Tolvaptan, a V2 receptor inhibitor, has been clinically shown to slow the growth of cysts and reduce renal damage. The introduction of tolvaptan dramatically changed the landscape of ADPKD treatment. Recent cellular research has highlighted a potential role for cellular metabolic changes in the pathogenesis of ADPKD. Additionally, new therapeutic approaches are now ongoing as clinical trials.

This Special Issue provides basic and clinical insights into ADPKD, for which a second paradigm shift is just around the corner.

Prof. Dr. Shigeo Horie
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 Clinical Medicine is an international peer-reviewed open access semimonthly 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

  • ADPKD
  • polycystin
  • tolvaptan
  • TKV, WGS
  • mitochondria, oxidative stress
  • inflammation

Published Papers (5 papers)

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Research

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11 pages, 935 KiB  
Article
Cyst Fraction as a Biomarker in Autosomal Dominant Polycystic Kidney Disease
by Larina A. Karner, Sita Arjune, Polina Todorova, David Maintz, Franziska Grundmann, Thorsten Persigehl and Roman-Ulrich Müller
J. Clin. Med. 2023, 12(1), 326; https://doi.org/10.3390/jcm12010326 - 31 Dec 2022
Cited by 1 | Viewed by 1891
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease. Patients at high risk of severe disease progression should be identified early in order to intervene with supportive and therapeutic measures. However, the glomerular filtration rate (GFR) may remain within [...] Read more.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease. Patients at high risk of severe disease progression should be identified early in order to intervene with supportive and therapeutic measures. However, the glomerular filtration rate (GFR) may remain within normal limits for decades until decline begins, making it a late indicator of rapid progression. Kidney volumetry is frequently used in clinical practice to allow for an assessment of disease severity. Due to limited prognostic accuracy, additional imaging markers are of high interest to improve outcome prediction in ADPKD, but data from clinical cohorts are still limited. In this study, we examined cyst fraction as one of these parameters in a cohort of 142 ADPKD patients. A subset of 61 patients received MRIs in two consecutive years to assess longitudinal changes. All MRIs were analyzed by segmentation and volumetry of the kidneys followed by determination of cyst fraction. As expected, both total kidney volume (TKV) and cyst fraction correlated with estimated GFR (eGFR), but cyst fraction showed a higher R2 in a univariate linear regression. Besides, only cyst fraction remained statistically significant in a multiple linear regression including both htTKV and cyst fraction to predict eGFR. Consequently, this study underlines the potential of cyst fraction in ADPKD and encourages prospective clinical trials examining its predictive value in combination with other biomarkers to predict future eGFR decline. Full article
(This article belongs to the Special Issue Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes)
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12 pages, 648 KiB  
Article
Echocardiographic Abnormalities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Patients
by Mariana Becker Pfeferman, Daniel Ribeiro da Rocha, Fernanda Guedes Rodrigues, Elcio Pfeferman and Ita Pfeferman Heilberg
J. Clin. Med. 2022, 11(20), 5982; https://doi.org/10.3390/jcm11205982 - 11 Oct 2022
Cited by 7 | Viewed by 1699
Abstract
Cardiovascular abnormalities, such as left ventricular hypertrophy and valvular disorders, particularly mitral valve prolapse, have been described as highly prevalent among adult patients with autosomal dominant polycystic kidney disease (ADPKD). The present study aimed to assess echocardiographic parameters in a large sample of [...] Read more.
Cardiovascular abnormalities, such as left ventricular hypertrophy and valvular disorders, particularly mitral valve prolapse, have been described as highly prevalent among adult patients with autosomal dominant polycystic kidney disease (ADPKD). The present study aimed to assess echocardiographic parameters in a large sample of both normotensive and hypertensive ADPKD patients, regardless of kidney function level, and evaluate their association with clinical and laboratorial parameters. A retrospective study consisted of the analysis of clinical, laboratorial, and transthoracic echocardiograms data retrieved from the medical records of young adult ADPKD outpatients. A total of 294 patients (120 M/174 F, 41.0 ± 13.8 years old, 199 hypertensive and 95 normotensive) with a median estimated glomerular filtration rate (eGFR) of 75.5 mL/min/1.73 m2 were included. The hypertensive group (67.6%) was significantly older and exhibited significantly lower eGFR than the normotensive one. Increased left ventricular mass index (LVMI) was seen in 2.0%, mitral valve prolapse was observed in 3.4%, mitral valve regurgitation in 15.3%, tricuspid valve regurgitation in 16.0%, and aortic valve regurgitation in 4.8% of the whole sample. The present study suggested that the prevalence of mitral valve prolapse was much lower than previously reported, and increased LVMI was not seen in most adult ADPKD patients. Full article
(This article belongs to the Special Issue Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes)
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16 pages, 6796 KiB  
Article
Potential Therapeutic Effects of Long-Term Stem Cell Administration: Impact on the Gene Profile and Kidney Function of PKD/Mhm (Cy/+) Rats
by Daniela Nardozi, Stefania Palumbo, Arif ul Maula Khan, Carsten Sticht, Karen Bieback, Samar Sadeghi, Mark Andreas Kluth, Michael Keese and Norbert Gretz
J. Clin. Med. 2022, 11(9), 2601; https://doi.org/10.3390/jcm11092601 - 5 May 2022
Cited by 2 | Viewed by 2633
Abstract
Cystic kidney disease (CKD) is a heterogeneous group of genetic disorders and one of the most common causes of end-stage renal disease. Here, we investigate the potential effects of long-term human stem cell treatment on kidney function and the gene expression profile of [...] Read more.
Cystic kidney disease (CKD) is a heterogeneous group of genetic disorders and one of the most common causes of end-stage renal disease. Here, we investigate the potential effects of long-term human stem cell treatment on kidney function and the gene expression profile of PKD/Mhm (Cy/+) rats. Human adipose-derived stromal cells (ASC) and human skin-derived ABCB5+ stromal cells (2 × 106) were infused intravenously or intraperitoneally monthly, over 6 months. Additionally, ASC and ABCB5+-derived conditioned media were administrated intraperitoneally. The gene expression profile results showed a significant reprogramming of metabolism-related pathways along with downregulation of the cAMP, NF-kB and apoptosis pathways. During the experimental period, we measured the principal renal parameters as well as renal function using an innovative non-invasive transcutaneous device. All together, these analyses show a moderate amelioration of renal function in the ABCB5+ and ASC-treated groups. Additionally, ABCB5+ and ASC-derived conditioned media treatments lead to milder but still promising improvements. Even though further analyses have to be performed, the preliminary results obtained in this study can lay the foundations for a novel therapeutic approach with the application of cell-based therapy in CKD. Full article
(This article belongs to the Special Issue Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes)
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Review

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15 pages, 859 KiB  
Review
Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities
by Shizuko Nagao and Tamio Yamaguchi
J. Clin. Med. 2023, 12(2), 668; https://doi.org/10.3390/jcm12020668 - 14 Jan 2023
Cited by 5 | Viewed by 3934
Abstract
Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and nephronophthisis are hereditary disorders with the occurrence of numerous cysts in both kidneys, often causing chronic and end-stage renal failure. Animal models have played an important role in recent advances in research [...] Read more.
Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and nephronophthisis are hereditary disorders with the occurrence of numerous cysts in both kidneys, often causing chronic and end-stage renal failure. Animal models have played an important role in recent advances in research not only on disease onset and progressive mechanisms but also on the development of therapeutic interventions. For a long time, spontaneous animal models have been used as the primary focus for human diseases; however, after the identification of the nucleotide sequence of the responsible genes, PKD1, PKD2, PKHD1, and NPHPs, various types of genetically modified models were developed by genetic and reproductive engineering techniques and played the leading role in the research field. In this review, we present murine models of hereditary renal cystic diseases, discussing their potential benefits in the development of therapeutic strategies. Full article
(This article belongs to the Special Issue Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes)
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25 pages, 5800 KiB  
Review
Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)
by Akinari Sekine, Sumi Hidaka, Tomofumi Moriyama, Yasuto Shikida, Keiji Shimazu, Eiji Ishikawa, Kiyotaka Uchiyama, Hiroshi Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, Shinya Nakatani, Tadashi Otsuka, Hirayasu Kai, Kan Katayama, Shiho Makabe, Shun Manabe, Wataru Shimabukuro, Koichi Nakanishi, Saori Nishio, Fumihiko Hattanda, Kazushige Hanaoka, Kenichiro Miura, Hiroki Hayashi, Junichi Hoshino, Ken Tsuchiya, Toshio Mochizuki, Shigeo Horie, Ichiei Narita and Satoru Mutoadd Show full author list remove Hide full author list
J. Clin. Med. 2022, 11(21), 6528; https://doi.org/10.3390/jcm11216528 - 3 Nov 2022
Cited by 8 | Viewed by 5964
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential [...] Read more.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD. Full article
(This article belongs to the Special Issue Cystic Kidney Disease: Clinical Diagnosis, Treatment and Outcomes)
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