Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis

Hohenfellner K, Wühl E, Haffner D, Weitzel D, Tsygin A, Trollmann R, Steidle G, Simons M, Sevel K, Schmitt M, Rottmann K, Ravichandran R, Prikhodina L, Sikora P, Okun JG, Oh J, Oetjen S, Nennstiel U, Merkel M, McCarthy H, Marscheider J, Liang H, Kölker S, Knerr C, Keidel L, Janzen N, Hoppe B, Hataya H, Gross O, Greeley C, Greco M, Graf S, Flockerzi E, Doyle M, vom Dahl S, Das AM, Casteels I, Brockmann D, Boyer O, Cremers JF, Coppi R, Bergmann C, Beimler J, Ariceta G, Koch V, Bishop R, Alhasan K, Awan A, Bacchetta J, Pozza SBD, Biswas S, Bos M, Bürger F, Choi M, Elenberg E, Erler J, Froschauer S, Grimm PC, Hebestreit H, Herzig N, Inhestern L, Köppl C, Levtchenko E, Lipkin G, Muth T, Pape L, Priglinger C, Quitmann J, Reuner G, Rohayem J, Schilling B, Servais A, Soliman NA, Sollacher A, Sproedt C, Topaloglu R, Tönshoff B, Trauner D, Witt S, Goodyer P, Thoene J, Emma F (2026)

Publication Type: Journal article

Publication year: 2026

Journal

DOI: 10.1038/s41581-026-01089-7

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in CTNS, which encodes cystinosin, a H⁺/cystine symporter that mediates cystine efflux from lysosomes. Defective cystinosin leads to accumulation of cystine in lysosomes and the formation of cystine crystals in most tissues. In its more severe and frequent form, infantile nephropathic cystinosis, patients present with renal Fanconi syndrome in the first 2 years of life, which progresses to chronic kidney disease. Since the 1970s, cysteamine therapy and improvements in dialysis and transplantation have substantially improved patient outcomes, and currently most patients survive into adulthood. Consequently, the diagnosis and management of extra-renal complications that develop later in life have become increasingly important. In addition to the kidneys, commonly affected organs include the eyes, the musculoskeletal system, the central nervous system, exocrine glands and endocrine organs. Cystinosis therefore requires integrated care that involves multiple medical specialties and a structured transition plan from paediatric to adult care. Herein, we present evidence-based and expert opinion-based clinical practice recommendations, developed by a team of international specialists and patient representatives following the GRADE methodology, to improve the diagnosis and management of cystinosis in children and adults.

Authors with CRIS profile

Involved external institutions

Wilmer Eye Institute United States (USA) (US) Temple Street Children's University Hospital / Children's Health Ireland (CHI) Ireland (IE) Hospices Civils de Lyon (CHU) France (FR) Klinikum der Universität München (LMU Klinikum) Germany (DE) Manchester Royal Eye Hospital United Kingdom (GB) Ruprecht-Karls-Universität Heidelberg Germany (DE) Charité - Universitätsmedizin Berlin Germany (DE) Baylor College of Medicine United States (USA) (US) fh gesundheit / Health University of Applied Sciences Tyrol Austria (AT) Cystinose Stiftung Germany (DE) Stanford University United States (USA) (US) Universitätsklinikum Würzburg Germany (DE) RoMed Kliniken - Kliniken der Stadt und des Landkreises Rosenheim GmbH Germany (DE) Universitätsklinikum Heidelberg Germany (DE) Cystinosis Research Network United States (USA) (US) Cystinosis Network Europe Ireland (IE) MIOT International - Madras Institute of Orthopaedics and Traumatology India (IN) Pirogov Russian National Research Medical University (RSMU / RNRMU) Russian Federation (RU) Medical University of Lublin / Uniwersytet Medyczny w Lublinie Poland (PL) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Kindernierenzentrum Bonn Germany (DE) Tokyo Metropolitan Children's Medical Center Japan (JP) Universitätsklinikum Göttingen Germany (DE) Ospedale Pediatrico Bambino Gesu Italy (IT) Medizinische Universität Innsbruck Austria (AT) Universitätsklinikum des Saarlandes (UKS) Germany (DE) Quinnipiac University United States (USA) (US) Universitätsklinikum Düsseldorf Germany (DE) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Bayerisches Staatsministerium für Ernährung, Landwirtschaft, Forsten und Tourismus Germany (DE) Semmelweis University / Semmelweis Egyetem Hungary (HU) Klinikum rechts der Isar Germany (DE) Medizinische Genetik Mainz Germany (DE) Autonomous University of Barcelona (UAB) / Universitat Autònoma de Barcelona Spain (ES) University of São Paulo / Universidade de São Paulo (USP) Brazil (BR) Hacettepe University Turkey (TR) University of California, San Diego (UC San Diego, UCSD) United States (USA) (US) Hochschule für Angewandte Wissenschaften Hamburg (HAW) Germany (DE) University of Michigan United States (USA) (US) Hôpital Necker-Enfants malades France (FR) Sorbonne Université France (FR) Universitätsklinikum Münster Germany (DE) Academic Medical Centre / Academisch Medisch Centrum (AMC) Netherlands (NL) University Hospitals Birmingham NHS Foundation Trust United Kingdom (GB) Universitätsklinikum Essen Germany (DE) Ostschweizer Kinderspital Switzerland (CH)

How to cite

APA:

Hohenfellner, K., Wühl, E., Haffner, D., Weitzel, D., Tsygin, A., Trollmann, R.,... Emma, F. (2026). Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis. Nature Reviews Nephrology. https://doi.org/10.1038/s41581-026-01089-7

MLA:

Hohenfellner, Katharina, et al. "Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis." Nature Reviews Nephrology (2026).

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