For decades, ill-defined autosomal dominant kidney diseases have been reported in which disorders originate from tubular cells that lead to tubular atrophy and interstitial fibrosis. Affected family members often display renal fibrosis in the biopsy and exhibit gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. These diseases are caused by mutations in at least four different genes: UMOD, HNF1B, REN and as recently described, MUC1, but the clinical manifestations of each gene defect are largely indistinguishable. Variable and inconsistent terminology has been developed to describe these diseases, including medullary cystic kidney disease (MCKD type 1 and 2). Such terminology, however, is misleading since renal cysts are neither a pathognomonic feature nor do they appear to be of pathophysiological relevance for disease progression. These dominant diseases are currently considered to be rare but the true incidence remains unknown.
The objective of the KDIGO Controversies Conference on Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) was to gather a global panel of clinical and scientific experts to establish the terminology and nomenclature for this group of diseases and address key issues related to their detection, diagnostic work-up, management and treatment. By developing this classification and assessing our current state of knowledge, it is hoped that these efforts will not only improve the characterization of these disorders but will also facilitate communication between researchers and inform clinicians of the evidence base for present treatment options. This conference will put forth a summary of the outstanding knowledge gaps and proposed research agenda to better resolve standing controversial issues and help pave the way for future studies in this area.
Drs. Olivier Devuyst (University of Zurich, Switzerland) and Kai-Uwe Eckardt (University of Erlangen-Nürnberg, Germany) co-chaired this conference.
“MCKD” clinical aspects, gene identification & differential diagnosis
Presenter: Anthony Bleyer
Presenter: Olivier Devuyst
HNF1B-related disease: a paradigm of developmental disorder eligible for ADTKD
Presenter: Dominique Chauveau
The challenge of understanding MUC1 disease
Presenter: Lucienne Ronco