… individuals carrying loss-of-function variants. Our findings emphasize the key role of bulk and
… development by analyzing the phenotypes of individuals with rare LOF coding variants and …

… , in order to improve outcomes for people living with kidney diseases. To advance its mission…
big data analyses, and studies of rare diseases; patient-centred outcomes and quality of life, …

… edition of Kidney Disease: Improving Global Outcomes (KDIGO) … preferences and outcomes
of relevance to patients and … a surrogate outcome measure for kidney failure in clinical trials. …

… improved our understanding of the challenges and needs of long-term data collection in rare
diseases, aiding in future rare disease real-world … renal and cardiovascular outcomes, with …

… crucial in improving one’s short- and long-term outcomes. … disorder of CKD-MBD that is
quantified by histomorphometry of bone biopsy [2]. Kidney Disease: Improving Global Outcomes (…

… have improved our understanding of kidney diseases from a … are associated with disease
phenotypes or outcomes to improve our … pathway activation across rare kidney diseases 86 , an …

… However, it is unusual to perform kidney biopsy at early DKD. In addition, an autopsy study
suggests that histological findings do not necessary correlate with clinical presentation in …

… rare autosomal recessive disorder that is associated with excess oxalate production and
urinary oxalate excretion, increasing … These findings are consistent with reports of hyperoxaluria …

… Finally, we discuss how clinical integration of findings from … This study confirmed the increased
burden of large, rare, … of several kidney diseases such as IgA nephropathy, membranous …

… , such as the European Rare Kidney Disease Registry [1], and on … items for the different
groups of monogenic kidney disorders [… findings is the subject of an ongoing international ethical …