A rare genetic renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes chronic tubulointerstitial nephritis occasional presence of cysts and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile juvenile and late onset.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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