DGKEnephropathy is an ultra-rare inherited kidney disease, and important questions remain about its natural history, genotype-phenotype correlations, optimal treatment, and long-term renal outcomes. International collaboration is needed to collect standardized clinical, genetic, pathology, and outcome data.
Potential aims of collaborative research include:
• Defining the full clinical spectrum of DGKEnephropathy
• Clarifying genotype-phenotype relationships
• Understanding the role of complement activation in selected patients
• Identifying predictors of CKD progression and end-stage kidney disease
• Evaluating outcomes of supportive care, plasma therapy, complement inhibition, and kidney transplantation
• Supporting future development of mechanism-based therapies
Possible inclusion criteria may include patients with likely pathogenic or pathogenic biallelic DGKEvariants, or a strongly suggestive phenotype undergoing confirmatory testing.
DGKE