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Autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease)

Anthony Bleyer, MD, MS
Section Editors
Gary C Curhan, MD, ScD
Ronald D Perrone, MD
Deputy Editor
Albert Q Lam, MD


Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an uncommon group of genetic disorders characterized by progressive decline in kidney function and autosomal dominant inheritance [1]. There are approximately 400 families in the United States suffering from this condition, and the prevalence in other countries is likely to be similar. Individual families may have a large number of affected individuals due both to autosomal dominant inheritance and to the late onset of chronic kidney disease (CKD). Underreporting due to incorrect diagnosis may contribute to the low estimated prevalence.

The etiology, clinical presentation, diagnosis, and treatment of the major subtypes of ADTKD are discussed in this topic. Discussions of other inherited renal disorders associated with progressive CKD, such as polycystic kidney disease, hereditary nephritis, and nephronophthisis, are presented elsewhere. (See "Diagnosis of and screening for autosomal dominant polycystic kidney disease" and "Autosomal dominant polycystic kidney disease in children" and "Autosomal recessive polycystic kidney disease in children" and "Clinical manifestations, diagnosis, and treatment of Alport syndrome (hereditary nephritis)" and "Clinical manifestations, diagnosis, and treatment of nephronophthisis".)


Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by the following features:

Autosomal dominant inheritance

Slowly progressive kidney disease, with impaired renal function typically appearing in the teenage years, and end-stage renal disease (ESRD) onset that is highly variable, usually between the ages of 20 and 70 years

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Literature review current through: Oct 2017. | This topic last updated: Jan 13, 2016.
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