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  1. Book: Towards a holistic view in the management of ADPKD-state-of-the-art and upcoming approaches

    Torra, Roser

    (Clinical kidney journal ; volume 11, supplement 1 (December 2018))

    2018  

    Title variant Special issue: Towards a holistic view in the management of ADPKD-state-of-the-art and upcoming approaches
    Author's details guest edited by Roser Torra and Roman-Ulrich Müller
    Series title Clinical kidney journal ; volume 11, supplement 1 (December 2018)
    Collection
    Language English
    Size i38 Seiten, Illustrationen
    Publisher Oxford University Press
    Publishing place Oxford
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT020030125
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 6587 -11,Suppl.1- verfügbar in Königswinter Königswinter

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  2. Article ; Online: Kidney Health Matters: A Global Imperative for Public Health.

    Torra, Roser

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

    2024  

    Language English
    Publishing date 2024-04-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 90594-x
    ISSN 1460-2385 ; 0931-0509
    ISSN (online) 1460-2385
    ISSN 0931-0509
    DOI 10.1093/ndt/gfae083
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2198: Show issues Location:
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  3. Article ; Online: Recent advances in the clinical management of autosomal dominant polycystic kidney disease.

    Torra, Roser

    F1000Research

    2019  Volume 8

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. This article reviews recent advances in ADPKD and focuses mainly on diagnosis, management, and prediction of the course of the disease.
    MeSH term(s) Cysts/etiology ; Humans ; Hypertension ; Kidney ; Liver Diseases ; Polycystic Kidney, Autosomal Dominant/complications ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Polycystic Kidney, Autosomal Dominant/therapy
    Language English
    Publishing date 2019-01-29
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2699932-8
    ISSN 2046-1402 ; 2046-1402
    ISSN (online) 2046-1402
    ISSN 2046-1402
    DOI 10.12688/f1000research.17109.1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases-not yet ready for prime time!

    Torra, Roser / Kronbichler, Andreas / Bajema, Ingeborg M

    Clinical kidney journal

    2023  Volume 17, Issue 1, Page(s) sfad250

    Language English
    Publishing date 2023-11-09
    Publishing country England
    Document type Editorial
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfad250
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6587: Show issues Location:
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  5. Article ; Online: Recent advances in the clinical management of autosomal dominant polycystic kidney disease [version 1; referees

    Roser Torra

    F1000Research, Vol

    2 approved]

    2019  Volume 8

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. This article reviews recent advances in ADPKD and focuses mainly on diagnosis, management, and prediction of the course of the disease.
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2019-01-01T00:00:00Z
    Publisher F1000 Research Ltd
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  6. Article: Can ketogenic dietary interventions slow disease progression in ADPKD: what we know and what we don't.

    Ong, Albert C M / Torra, Roser

    Clinical kidney journal

    2022  Volume 15, Issue 6, Page(s) 1034–1036

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease leading to kidney failure. To date, there is no cure for the disease although there is one approved disease-modifying therapy: tolvaptan. In this context, a ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease leading to kidney failure. To date, there is no cure for the disease although there is one approved disease-modifying therapy: tolvaptan. In this context, a common question that ADPKD patients ask in clinical practice is whether there is anything they can do to slow their disease by modifying their diet or lifestyle. Recent evidence from experimental PKD models has shown the potential benefits of caloric restriction, high water intake and especially ketogenic diets in preserving kidney function. Whether these benefits are translatable to humans remains unknown. In this issue of
    Language English
    Publishing date 2022-04-21
    Publishing country England
    Document type Editorial
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfac103
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Dietary Aspects and Drug-Related Side Effects in Autosomal Dominant Polycystic Kidney Disease Progression.

    Quiroga, Borja / Torra, Roser

    Nutrients

    2022  Volume 14, Issue 21

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease. In the absence of targeted therapies, it invariably progresses to advanced chronic kidney disease. To date, the only approved treatment is tolvaptan, a ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease. In the absence of targeted therapies, it invariably progresses to advanced chronic kidney disease. To date, the only approved treatment is tolvaptan, a vasopressin V2 receptor antagonist that has been demonstrated to reduce cyst growth and attenuate the decline in kidney function. However, it has various side effects, the most frequent of which is aquaresis, leading to a significant discontinuation rate. The strategies proposed to combat aquaresis include the use of thiazides or metformin and a reduction in the dietary osmotic load. Beyond the prescription of tolvaptan, which is limited to those with a rapid and progressive decline in kidney function, dietary interventions have been suggested to protect against disease progression. Moderate sodium restriction, moderate protein intake (up to 0.8 g/kg/day), avoidance of being overweight, and increased water consumption are recommended in ADPKD guidelines, though all with low-grade evidence. The aim of the present review is to critically summarize the evidence on the effect of dietary modification on ADPKD and to offer some strategies to mitigate the adverse aquaretic effects of tolvaptan.
    MeSH term(s) Humans ; Tolvaptan/therapeutic use ; Polycystic Kidney, Autosomal Dominant/drug therapy ; Antidiuretic Hormone Receptor Antagonists/therapeutic use ; Renal Insufficiency, Chronic/drug therapy ; Drug-Related Side Effects and Adverse Reactions ; Disease Progression ; Kidney
    Chemical Substances Tolvaptan (21G72T1950) ; Antidiuretic Hormone Receptor Antagonists
    Language English
    Publishing date 2022-11-03
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu14214651
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Why do we keep ignoring sex in kidney disease?

    Jankowska, Magdalena / Soler, María José / Stevens, Kate I / Torra, Roser

    Clinical kidney journal

    2023  Volume 16, Issue 12, Page(s) 2327–2335

    Abstract: Throughout the history of nephrology, little attention has been paid to the sex and gender differences in kidney disease. This lack of awareness prevents optimal diagnosis and management of kidney disease. In today's world of precision medicine, it is ... ...

    Abstract Throughout the history of nephrology, little attention has been paid to the sex and gender differences in kidney disease. This lack of awareness prevents optimal diagnosis and management of kidney disease. In today's world of precision medicine, it is imperative to appreciate the differential factors regarding gender and kidney disease. This editorial summarizes the up-to-date literature regarding sex and gender differences in kidney disease and considers areas where knowledge is incomplete and where further research is needed. We address sex-specific effects on chronic kidney disease epidemiology; risks of dialysis underdosing and medication overdosing in women; unexplained loss of female sex advantage in life expectancy during dialysis, and impact of sex on diagnosis and management of genetic kidney disease. We also aim to highlight the impact of gender on kidney health and raise awareness of disparities that may be faced by women, and transgender and gender-diverse persons when a male-model approach is used by healthcare systems. By understanding the link between sex and kidney disease, kidney specialists can improve the care and outcomes of their patients. In addition, research on this topic can inform the development of targeted prevention and intervention strategies that address the specific needs and risk factors of different populations.
    Language English
    Publishing date 2023-08-08
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfad183
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    In stock of ZB MED Cologne/Königswinter

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  9. Article: 'The forgotten sex': gender disparities in kidney disease.

    Stevens, Kate I / Mallamaci, Francesca / Ortiz, Alberto / Bover, Jordi / Delanaye, Pierre / Torra, Roser / Cozzolino, Mario

    Clinical kidney journal

    2023  Volume 17, Issue 4, Page(s) sfad102

    Language English
    Publishing date 2023-05-01
    Publishing country England
    Document type Editorial
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfad102
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  10. Article ; Online: Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.

    Rodríguez Doyágüez, Pablo / Furlano, Mónica / Ars Criach, Elisabet / Arce, Yolanda / Guirado, Lluís / Torra Balcells, Roser

    Nefrologia

    2024  Volume 43 Suppl 2, Page(s) 91–95

    Abstract: Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a ... ...

    Abstract Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males. This is due to the X chromosome inactivation phenomenon. We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level.
    MeSH term(s) Male ; Female ; Humans ; Fabry Disease/genetics ; Fabry Disease/pathology ; X Chromosome Inactivation ; alpha-Galactosidase/genetics ; alpha-Galactosidase/metabolism ; Kidney/pathology ; Phenotype
    Chemical Substances alpha-Galactosidase (EC 3.2.1.22)
    Language English
    Publishing date 2024-01-25
    Publishing country Spain
    Document type Case Reports
    ZDB-ID 2837917-2
    ISSN 2013-2514 ; 2013-2514
    ISSN (online) 2013-2514
    ISSN 2013-2514
    DOI 10.1016/j.nefroe.2024.01.018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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