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Rare kidney diseases

  1. Content type: Research

    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

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  2. Content type: Research

    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

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  3. Content type: Research

    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

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  4. Content type: Research

    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

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  5. Content type: Review

    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

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