ADTKD -
Information

Centers for rare kidney diseases in Germany

University Hospital Erlangen

CeRKiD Berlin -  Charité University Medicine

Hannover Medical School - Center for Rare Diseases (Congenital Kidney Diseases)

University Hospital Düsseldorf - Outpatient Clinic for Rare and Hereditary Kidney Diseases

Zentrum für seltene Nierenerkrankungen am Universitätsklinikum Leipzig

Further Contacts

SE-ATLAS – Care Atlas for People with Rare Diseases  

https://www.se-atlas.de

Young Kidney Patients Germany e.V.

https://juniev.de

German Kidney Foundation 

www.nierenstiftung.de

DIATRA - Journal for chronically ill people in the fields of nephrology, transplantation, and diabetology 

https://diatra-verlag.de

Young Heroes - Association that educates people throughout Germany about organ donation

https://junge-helden.org

ProTransplant - Alliance of patient associations in the field of transplantation & organ donation

https://www.pro-transplant.de

Crossover-nierenspenderliste.de – Mediation of crossover living kidney donations

https://crossover-nierenspenderliste.de

Organ donation - Portal of the Federal Center for Health Education (BZgA)

https://www.organspende-info.de

Transdia-Sport Germany e.V.

www.transdiaev.de

European reference work for rare kidney diseases

https://www.erknet.org

European Chronic Kidney Disease Alliance (EKHA)

https://ekha.eu

Orphanet – Portal for rare diseases and orphan drugs

https://www.orpha.net

EKPF - European Kidney Patients' Federation

https://www.eu-patient.eu

Rare Kidney Disease Foundation - Patient organisation for ADTKD

https://www.rarekidney.org/

NORD – Organisation for people with rare diseases in the USA

https://rarediseases.org

GARD – Genetic and Rare Diseases Information Center of the National Instituts of Health in the USA

https://rarediseases.info.nih.gov

Xiao L et al. Molecular basis of TMED9 oligomerization and entrapment of misfolded protein cargo in the early secretory pathway. 

Sci Adv. 2024 Sep 20;10(38):eadp2221.https://pubmed.ncbi.nlm.nih.gov/39303030

Econimo L et al. Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD. Kidney Int Rep. 2022 Aug 29;7(11):2332-2344. 

https://pubmed.ncbi.nlm.nih.gov/36531871

Wopperer FJ et al. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney Int. 2022;102(2):405-420.

https://pubmed.ncbi.nlm.nih.gov/35643372

Popp B et al. Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study. Eur J Hum Genet. 2022 Sep 13. doi: 10.1038/s41431-022-01177-9. Online ahead of print. 

https://pubmed.ncbi.nlm.nih.gov

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Mabillard H, et al. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2021 Sep 14;gfab268. 

https://pubmed.ncbi.nlm.nih.gov/34519781

Dvela-Levitt M, et al. A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies. Trends Mol Med. 2021 Apr;27(4):394-409. 

https://pubmed.ncbi.nlm.nih.gov/33341352

Olinger E, et al. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Kidney Int. 2020 Sep;98(3):717-731. 

https://pubmed.ncbi.nlm.nih.gov/32450155

Bleyer AJ, et al. Quality of life in patients with autosomal dominant tubulointerstitial kidney disease. Clin Nephrol. 2019 Dec;92(6):302-311. 

https://pubmed.ncbi.nlm.nih.gov/31587753

Knaup, KX, Wiesener, MS. Autosomal-dominante tubulointerstitielle Nierenerkrankungen (ADTKD). Nephrologe 2019;14: 112–119. 

https://www.springermedizin.de/der-nephrologe-2-2019/16513674

Bleyer AJ, et al. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers. 2019 Sep 5;5(1):60. https://pubmed.ncbi.nlm.nih.gov/31488840

Dvela-Levitt M, et al. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell. 2019 Jul 25;178(3):521-535.e23. 

https://pubmed.ncbi.nlm.nih.gov/31348885

Knaup KX, et al. Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. 

https://pubmed.ncbi.nlm.nih.gov/30049680

Žvirna M, et al. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431 

https://pubmed.ncbi.nlm.nih.gov/29967284

Eckardt KU, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015 Oct;88(4):676-83. 

https://pubmed.ncbi.nlm.nih.gov/25738250

Ekici AB, et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int. 2014 Sep;86(3):589-99 

https://pubmed.ncbi.nlm.nih.gov/24670410

Bleyer AJ, et al. Autosomal dominant tubulointerstitial kidney disease: of names and genes. Kidney Int. 2014 Sep;86(3):459-61. https://pubmed.ncbi.nlm.nih.gov/25168494

Bernascone I, et al. A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. Hum Mol Genet. 2010 Aug 1;19(15):2998-3010 

https://pubmed.ncbi.nlm.nih.gov/20472742