Journal
KIDNEY INTERNATIONAL
Volume 88, Issue 4, Pages 676-683Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/ki.2015.28
Keywords
genetics; hepatocyte nuclear factor-1 beta; kidney disease; mucin-1; renin; uromodulin
Categories
Funding
- European Regional Development Fund
- Republic of Cyprus through the Research Promotion Foundation [NEW INFRASTRUCTURE/STRATEGIC/0308/24]
- Charles University institutional programs [PRVOUK-P24/LF1/3, UNCE 204011, SVV2013/266504]
- BIOCEV-Biotechnology and Biomedicine Centre of the Academy of Sciences
- Charles University from the European Regional Development Fund [CZ.1.05/1.1.00/02.0109]
- Ministry of Education of the Czech Republic [LH12015]
- Telethon-Italy [TCR08006]
- Italian Ministry of Health [RF-2010-2319394]
- Else Kroner-Fresenius-Stiftung [2010 A137]
- ELAN-Fonds of the Friedrich-Alexander-University Erlangen-Nurnberg [09.10.21.1]
- NIH [K08DK095994-03]
- Carl W. Gottschalk Research Scholar Grant (American Society of Nephrology)
- European Community's 7th Framework Program (FP7) [246539, 608847, 305608]
- FNRS and FRSM (Belgium)
- NCCR Kidney
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Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1 beta (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.
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