SNP Shot: Genomic Insights

Uromodulin-associated kidney disease (UAKD) is a genetic disorder that impacts kidney function. The manifestations of UAKD can differ significantly, even among individuals within the same family.

A common characteristic of UAKD is elevated uric acid levels in the blood. Healthy kidneys normally filter uric acid from the bloodstream into the urine. However, in UAKD, the kidneys' ability to perform this function is impaired. The accumulation of uric acid can lead to gout, a type of arthritis caused by uric acid crystals forming in the joints. In UAKD, gout symptoms may manifest as early as adolescence.

UAKD leads to a gradual decline in kidney function, with symptoms generally appearing during the teenage years. As the disease progresses, the kidneys become less efficient at filtering fluids and waste, eventually resulting in kidney failure. Individuals with UAKD often require dialysis to filter their blood or a kidney transplant, typically between the ages of 30 and 70. In some cases, affected individuals may have abnormally small kidneys or kidney cysts (medullary cysts).

Inheritance:

UAKD follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the disease.