Abstract
Introduction 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.
Highlights
Inherited forms of tubulointerstitial kidney disease with an autosomal dominant pattern cause slowly progressive renal failure, often leading to end-stage renal disease
Nephronophthisis is a ciliopathy and may be associated with a range of extrarenal manifestations, in keeping with the fact that the underlying gene defects are all in genes encoding primary ciliary proteins[2]
The age of onset of chronic kidney disease varies between families and within families, and the rate of progression is not precisely known; but the typical age of end-stage renal disease (ESRD) is 50 years of age[6,7]
Summary
Hereditary interstitial kidney diseases may be classified into autosomal dominant and autosomal recessive disorders. diseases include nephronophthisis, which typically leads to end-stage renal disease in the first three decades of life[1]. Nephronophthisis is a ciliopathy and may be associated with a range of extrarenal manifestations, in keeping with the fact that the underlying gene defects are all in genes encoding primary ciliary proteins[2]. Autosomal dominant interstitial kidney diseases have been classified into various types depending on their linkage to disease loci. These include medullary cystic kidney disease type 1 (MCKD1)[3], medullary cystic kidney disease type 2 (MCKD2; known as uromodulin-associated kidney disease, UAKD)[4] and REN-related kidney disease[5]. We review the clinical features and the underlying molecular genetics of each of these dominant causes of interstitial kidney disease
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
