Inherited kidney diseases can present in a variety of different ways, from painless blood and/or protein in the urine to painful stones or the general malaise that occurs when kidneys fail. Many inherited kidney disorders lead to renal failure at a young age, including in childhood, and life expectancy may be significantly reduced. Renal replacement therapies such as dialysis or a transplant may be possible in some cases, but are inevitably associated with various risks and complications. The burden of living with renal failure is huge as the quality of life may be significantly impaired, and the cost of providing long term care is huge.
Synonyms or keywords:
WES, Exome Sequencing, Whole Exome Sequencing, Clinical Exome, Gene Panel