Skip to main content

Rare kidney diseases

  1. Consequences of distal renal tubular acidosis (dRTA) on growth, bone and kidney, sometimes associated with hearing loss, may significantly affect quality of life (QoL). This descriptive qualitative study explo...

    Authors: Michaël Acquadro, Alexia Marrel, Maria A. Manso-Silván, Catherine Guittet, Sophie Joukoff and Aurélia Bertholet-Thomas
    Citation: Orphanet Journal of Rare Diseases 2022 17:141
  2. In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. ...

    Authors: Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje…
    Citation: Orphanet Journal of Rare Diseases 2022 17:122
  3. To evaluate the efficacy and safety of everolimus and sirolimus in patients with tuberous sclerosis complex-associated angiomyolipomas (TSC-AML).

    Authors: Cong Luo, Yu-Shi Zhang, Ming-Xin Zhang, Min-Feng Chen, Yuan Li, Lin Qi, Han-Zhong Li, Xiong-Bin Zu and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2021 16:299
  4. The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to genera...

    Authors: Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer…
    Citation: Orphanet Journal of Rare Diseases 2021 16:251
  5. Primary hyperoxaluria type 1 (PH1) is associated with nephrocalcinosis (NC) and calcium oxalate (CaOx) kidney stones (KS). Populations of urinary extracellular vesicles (EVs) can reflect kidney pathology. The ...

    Authors: Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule and John C. Lieske
    Citation: Orphanet Journal of Rare Diseases 2020 15:319

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:91

  6. To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.

    Authors: Sadia Jahan, Subashini Sarathchandran, Shamina Akhter, Jack Goldblatt, Samantha Stark, Douglas Crawford, Andrew Mallett and Mark Thomas
    Citation: Orphanet Journal of Rare Diseases 2020 15:10
  7. Acquired or genetic abnormalities of the complement alternative pathway are the primary cause of C3glomerulopathy(C3G) but may occur in immune-complex-mediated membranoproliferative glomerulonephritis (IC-MPGN...

    Authors: Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, Christof Aigner, Alice Schmidt, Martina Gaggl, Gere Sunder-Plassmann, Dóra Bajcsi, Jürgen Brunner, Alexandra Dumfarth, Daniel Cejka, Stefan Flaschberger, Hana Flögelova, Ágnes Haris, Ágnes Hartmann, Andreas Heilos…
    Citation: Orphanet Journal of Rare Diseases 2019 14:247
  8. Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for i...

    Authors: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar and Miriam Schmidts
    Citation: Orphanet Journal of Rare Diseases 2019 14:41
  9. Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomali...

    Authors: Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin and Jeng-Daw Tsai
    Citation: Orphanet Journal of Rare Diseases 2018 13:226
  10. Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gen...

    Authors: Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschenes, Mattia Gentile, Mario Giordano, Andrew K. Gormley, Rajeshree Govender…
    Citation: Orphanet Journal of Rare Diseases 2016 11:149
  11. Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/e...

    Authors: Nicolás Roberto Robles, Ramón Peces, Álvaro Gómez-Ferrer, Felipe Villacampa, Jose Luis Álvarez-Ossorio, Pedro Pérez-Segura, Juan Morote, Bernardo Herrera-Imbroda, Javier Nieto, Joaquín Carballido, Urbano Anido, Marian Valero, Cristina Meseguer and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2016 11:128
  12. Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein ...

    Authors: Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel and Elena Levtchenko
    Citation: Orphanet Journal of Rare Diseases 2016 11:47