Results 101 to 110 of about 1,812 (217)

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Distal Tubulopathy. Gitelman Syndrome

Pediatric pharmacology, 2019
The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article. Gitelman syndrome is a dysfunction of distal renal tubules with further development of hypomagnesemia, hypocalciuria and secondary aldosteronism which determine hypokalemia and ...
Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana V. Sergeeva, Olga V. Chumakova, Svetlana S. Paunova, Nurali Z. Zokirov, Olga V. Komarova, Tea V. Margieva, Vladimir K. Tatochenko, Maya D. Bakradze, Elena N. Tsygina, Olga I. Zrobok, Tatiana V. Vashurina, Irina N. Lupan, Mikhail Yu. Kagan, Alexey N. Tsygin   +15 more
openaire   +3 more sources

Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? [PDF]

, 2017
We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria.
Auberger, Ines, Aydin, Selda, Cornet, Georges, Cosyns, Jean-Pierre, Dahan, Karin, Demoulin, Nathalie, Devuyst, Olivier, Loffing, Johannes   +7 more
core  

Major revision version 13.0 of the European AIDS Clinical Society guidelines 2025

HIV Medicine, Volume 27, Issue 1, Page 18-32, January 2026.
Abstract Background The European AIDS Clinical Society (EACS) guidelines were revised for the 21st time in 2025, with updates covering all aspects of HIV care. Key Points of the Guidelines Update The structure of the guidelines has been reorganized into two parts: Part I focuses on the management and prevention of HIV and related infections, and Part ...
Juan Ambrosioni, Laura I. Levi, Jasmini Alagaratnam, Abiu Sempere, Andrea Mastrangelo, Paolo Paioni, Cristina Mussini, Catia Marzolini, Susanne Dam Nielsen, Charles Béguelin, Steven Welch, Anna Koval, Luis Mendao, Alasdair Bamford, Alexandra Calmy, Giovanni Guaraldi, Cristiana Oprea, Esteban Martínez, Jürgen K. Rockstroh, The EACS Governing Board   +19 more
wiley   +1 more source

Review of childhood genetic nephrolithiasis and nephrocalcinosis

Frontiers in Genetics
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden.
Ashley M. Gefen, Joshua J. Zaritsky
doaj   +1 more source

Valproic acid–associated proximal tubulopathy [PDF]

Kidney International, 2022
Satoru, Kudose, Marissa, Lipton, Namrata G, Jain, Vivette D, D'Agati   +3 more
openaire   +2 more sources

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]

, 2018
Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S, Ashton, E, Bakhsh, ARA, Bockenhauer, D, Bourgeois, S, D'Arco, F, Daryadel, A, Deeb, A, Edwards, N, Enerbäck, S, Heglind, M, Kleta, R, Kokash, FEB, Nilsson, D, Sayer, JA, Van't Hoff, W, Wagner, CA, Walsh, SB   +17 more
core  

Renal phosphate handling in Gitelman syndrome—the results of a case-control study [PDF]

, 2018
Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
Albisetti, Walter, Amoruso, Chiara, Barretta, Francesco, Bettinelli, Alberto, Bianchetti, Mario, Minnici, Giuseppe, Syrèn, Marie-Louise, Viganò, Cristina   +7 more
core  

Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

Nefrología (English Edition)
Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the loop of Henle and in the distal convoluted tubule. In this
Víctor M. Garcia-Nieto, Félix Claverie-Martin, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Mª Fraga-Rodríguez, María Isabel Luis-Yanes, Elena Ramos-Trujillo   +6 more
doaj   +1 more source

Maleic acid-induced proximal tubulopathy [PDF]

Journal of the American Society of Nephrology, 1993
Maleic acid (MA) administration to experimental animals induces a rapid, reversible, complex dysfunction of the renal tubule resembling Fanconi's syndrome. The intent of this work was to characterize the changes in the Na:K pump along the nephron during the development and recovery from MA injury to better define the site of damage and to correlate the
openaire   +2 more sources