School of Medicine
Uromodulin kidney disease (UKD) is a subtype of autosomal dominant tubulointerstitial kidney disease (ADTKD), and is a rare cause of renal failure and gout in young people. Although it is inherited in an autosomal dominant fashion, the gene mutation exhibits variable expressivity so the phenotype varies dramatically among affected individuals. While it is rare, it is important for physicians in the primary care setting to be able to recognize the disorder, initiate proper workup, and refer patients to nephrology teams that are equipped to manage the long-term needs of these patients. Eventually, most will progress to renal failure with necessary renal dialysis or kidney transplant. Kidney transplant is curative as the new kidney does not have the defective tubule cell gene. The case series that follows highlights the variable presentations of the disorder among members of the same family and the necessary long-term follow-up that will often be handled by the primary care provider in conjunction with the specialist team.
Digital Commons Citation
Wheeler, Emily and Thomas, Suresh, "Diagnosis and Long-term Management of Uromodulin Kidney Disease" (2019). Faculty & Staff Scholarship. 2183.
Wheeler E, Thomas S (March 19, 2019) Diagnosis and Long-term Management of Uromodulin Kidney Disease. Cureus 11(3): e4270. DOI 10.7759/cureus.4270