Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least four different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual.

[1] A third form of the disease occurs due to mutations in the gene encoding renin (ADTKD-REN), and has formerly been known as familial juvenile hyperuricemic nephropathy type 2.

In this condition, loss of kidney function occurs slowly over time, however the following signs/symptoms could be observed in an affected individual:[1] Some individuals with this disease develop gout,[8] which is a condition in which patients develop severe pain and swelling in the big toe or another joint such as the knee.

The abnormal protein builds up in the cell and causes it slowly to die, leading to an ultimate loss of the kidney's function manifesting as a disease state.

[12] The mucin-1 protein is involved in the creation of a mucus-like substance that coats the surface of different small tubules in the body, it is expressed on distal tubular cells in the kidney.

Tubulointerstitial is used because the problems that occur in this disease result as a consequence of atrophy, of tubules, of the loop of Henle and fibrosis of the medullary interstitium.

[medical citation needed] Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin[11][14] This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

[1] Scientists from the Broad Institute (Cambridge, Massachusetts) identified the genetic cause of UKD as mutations in the MUC1 gene.