Hereditary interstitial kidney disease: known genes and opportunities for diagnosis

Inherited forms of tubulointerstitial kidney disease with an autosomal dominant pattern cause slowly progressive renal failure, often leading to end-stage renal disease. The diagnosis may be missed as there are limited renal and extrarenal phenotypes. Typically, the urine is inactive, with normal or small kidneys on renal ultrasounds and sometimes small cortical or corticomedullary cyst formation. Extrarenal phenotypes may include childhood anaemia and gout, out of keeping with the degree of renal failure. In order to make a diagnosis, a detailed family history and a high index of suspicion is essential. Genetic screening for mutations in MUC1, UMOD and REN will allow a precise diagnosis to be made, allowing screening of at-risk cases and aid transplantation decisions. Conclusion We discuss the phenotypes common to all forms of autosomal dominant hereditary interstitial kidney disease and outline the key features that may help to refine a precise clinical and molecular diagnosis.