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  1. Article ; Online: The pathophysiology of distal renal tubular acidosis.

    Wagner, Carsten A / Unwin, Robert / Lopez-Garcia, Sergio C / Kleta, Robert / Bockenhauer, Detlef / Walsh, Stephen

    Nature reviews. Nephrology

    2023  Volume 19, Issue 6, Page(s) 384–400

    Abstract: The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the ... ...

    Abstract The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the collecting duct system causes distal renal tubular acidosis (dRTA), which is characterized by the failure to acidify urine below pH 5.5. This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet to be discovered. Inheritance of dRTA follows autosomal-dominant and -recessive patterns. Acquired forms of dRTA are caused by various types of autoimmune diseases or adverse effects of some drugs. Incomplete dRTA is frequently found in patients with and without kidney stone disease. These patients fail to appropriately acidify their urine when challenged, suggesting that incomplete dRTA may represent an intermediate state in the spectrum of the ability to excrete acids. Unrecognized or insufficiently treated dRTA can cause rickets and failure to thrive in children, osteomalacia in adults, nephrolithiasis and nephrocalcinosis. Electrolyte disorders are also often present and poorly controlled dRTA can increase the risk of developing chronic kidney disease.
    MeSH term(s) Adult ; Child ; Humans ; Acidosis, Renal Tubular/genetics ; Acidosis, Renal Tubular/drug therapy ; Kidney Calculi ; Kidney Tubules, Proximal ; Forkhead Transcription Factors/therapeutic use ; Vacuolar Proton-Translocating ATPases/genetics
    Chemical Substances dirhodium tetraacetate (NK3058Z56X) ; FOXI1 protein, human ; Forkhead Transcription Factors ; ATP6V1B1 protein, human ; Vacuolar Proton-Translocating ATPases (EC 3.6.1.-)
    Language English
    Publishing date 2023-04-04
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2490366-8
    ISSN 1759-507X ; 1759-5061
    ISSN (online) 1759-507X
    ISSN 1759-5061
    DOI 10.1038/s41581-023-00699-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Inherited Tubulopathies of the Kidney: Insights from Genetics.

    Downie, Mallory L / Lopez Garcia, Sergio C / Kleta, Robert / Bockenhauer, Detlef

    Clinical journal of the American Society of Nephrology : CJASN

    2020  Volume 16, Issue 4, Page(s) 620–630

    Abstract: The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an ... ...

    Abstract The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Inherited tubulopathies are characterized by impaired function of one or more of these specific transport molecules. The clinical consequences can range from isolated alterations in the concentration of specific solutes in blood or urine to serious and life-threatening disorders of homeostasis. In this review, we focus on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology have crossfertilized each other and facilitated the identification of these disorders and their molecular basis. In turn, clinical investigations of genetically defined patients have shaped our understanding of kidney physiology.
    MeSH term(s) Humans ; Kidney/physiology ; Kidney Diseases/genetics ; Kidney Tubules
    Language English
    Publishing date 2020-04-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2226665-3
    ISSN 1555-905X ; 1555-9041
    ISSN (online) 1555-905X
    ISSN 1555-9041
    DOI 10.2215/CJN.14481119
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Outcomes of paediatric kidney transplant recipients using the updated 2013/2017 Banff histopathological classification for antibody-mediated rejection.

    Preka, Evgenia / Sekar, Thivya / Lopez Garcia, Sergio C / Shaw, Olivia / Kessaris, Nicos / Mamode, Nizam / Stojanovic, Jelena / Sebire, Neil J / Kim, Jon Jin / Marks, Stephen D

    Pediatric nephrology (Berlin, Germany)

    2021  Volume 36, Issue 8, Page(s) 2575–2585

    Abstract: Background: After the major changes with regard to acute and chronic ABMR in the Banff classification initiated in 2013, there has been an improvement in diagnosing antibody-mediated rejection (ABMR) in adult studies but no data have been published in ... ...

    Abstract Background: After the major changes with regard to acute and chronic ABMR in the Banff classification initiated in 2013, there has been an improvement in diagnosing antibody-mediated rejection (ABMR) in adult studies but no data have been published in the paediatric population.
    Methods: We assessed 56 paediatric kidney transplant biopsies due to kidney dysfunction in patients with donor-specific antibodies (DSA) in a retrospective single-centre study between January 2006 and March 2012. The results were compared with 2003/2007 Banff classification noting the subsequent 2017 and 2019 modifications do not change the 2013 Banff classification with regard to acute antibody-mediated rejection (apart from the addition of gene transcripts/classifiers that do not affect our analysis).
    Results: Following the 2013 Banff classification, there were seven cases (12.5%) diagnosed with ABMR that would have been misclassified when applying the 2003/2007 classification. Evaluating the histological features of all ABMR-related cases, we report the importance of v- (intimal arteritis) and t- (tubulitis) lesions: absence of v- and t- lesions in the biopsy is related to significantly higher kidney allograft survival (OR 7.3, 95%CI 1.1-48.8, p = 0.03 and OR 5.3, 95%CI 1.2-25.5, p = 0.04 respectively). Moreover, absence of t- lesions was associated with significantly fewer rejection episodes the year after the initial biopsy (OR 5.1, 95%CI 1.4-19.8, p = 0.01).
    Conclusions: Our study supports that the updated 2013 Banff classification shows superior clinicopathological correlation in identifying ABMR in paediatric kidney transplant recipients. Our results can be extrapolated to the recently updated 2019 Banff classification.
    MeSH term(s) Adult ; Child ; Graft Rejection/diagnosis ; Humans ; Isoantibodies ; Kidney ; Kidney Transplantation/adverse effects ; Retrospective Studies
    Chemical Substances Isoantibodies
    Language English
    Publishing date 2021-06-18
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-021-05103-x
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  4. Article ; Online: Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

    Lopez-Garcia, Sergio C / Downie, Mallory L / Kim, Ji Soo / Boyer, Olivia / Walsh, Stephen B / Nijenhuis, Tom / Papizh, Svetlana / Yadav, Pallavi / Reynolds, Ben C / Decramer, Stéphane / Besouw, Martine / Perelló Carrascosa, Manel / La Scola, Claudio / Trepiccione, Francesco / Ariceta, Gema / Hummel, Aurélie / Dossier, Claire / Sayer, John A / Konrad, Martin /
    Keijzer-Veen, Mandy G / Awan, Atif / Basu, Biswanath / Chauveau, Dominique / Madariaga, Leire / Koster-Kamphuis, Linda / Furlano, Mónica / Zacchia, Miriam / Marzuillo, Pierluigi / Tse, Yincent / Dursun, Ismail / Pinarbasi, Ayse Seda / Tramma, Despoina / Hoorn, Ewout J / Gokce, Ibrahim / Nicholls, Kathleen / Eid, Loai A / Sartz, Lisa / Riordan, Michael / Hooman, Nakysa / Printza, Nikoleta / Bonny, Olivier / Arango Sancho, Pedro / Schild, Raphael / Sinha, Rajiv / Guarino, Stefano / Martinez Jimenez, Victor / Rodríguez Peña, Lidia / Belge, Hendrica / Devuyst, Olivier / Wlodkowski, Tanja / Emma, Francesco / Levtchenko, Elena / Knoers, Nine V A M / Bichet, Daniel G / Schaefer, Franz / Kleta, Robert / Bockenhauer, Detlef

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

    2020  

    Abstract: Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.: Methods: Paediatric and adult nephrologists contacted through European professional organizations ... ...

    Abstract Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.
    Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.
    Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients.
    Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.
    Language English
    Publishing date 2020-12-26
    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/gfaa243
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