1. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 
7.

UMOD and you! Explaining a rare disease diagnosis.

Mabillard H(1)(2), Olinger E(1), Sayer JA(1)(2)(3).

Author information:
(1)Translational and Clinical Research Institute, Faculty of Medical Sciences, 
Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ UK.
(2)Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle 
upon Tyne, NE7 7DN UK.
(3)NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, NE4 5PL UK.

The precise molecular genetic diagnosis of a rare inherited disease is nearly 
always a prolonged odyssey. Fortunately, modern molecular testing strategies are 
allowing more diagnoses to be made. There are many different rare inherited 
kidney diseases and both the genetic heterogeneity of these conditions and the 
clinical diversity often leads to confusing nomenclature. Autosomal dominant 
tubulointerstitial kidney disease (ADTKD) is an example of this. ADTKD, an 
inherited kidney disease that leads to worsening of kidney function over time, 
often culminating in end stage kidney disease, accounting for around 2% of this 
cohort. UMOD is the most common gene implicated in this disorder but there are 
at least 6 subtypes. At present, there are no specific treatments for ADTKD. 
Here, we review the current understanding of this condition and provide 
patient-centred information to allow conceptual understanding of this disease to 
allow better recognition, diagnosis and management.

© The Author(s) 2022.

DOI: 10.1007/s44162-022-00005-4
PMCID: PMC9767401
PMID: 36569465

Conflict of interest statement: Competing interestsProfessor John Sayer is a 
co-author of this study and Editorial Board member of the journal. He was not 
involved in handling this manuscript during the review process. The rest of the 
authors have no conflict of interest to declare.