This website provides information on patients with mutations in the DGKEgene, including clinical data, molecular data, management and research options.
The disorder caused by mutations in the DGKEgene is a rare inherited kidney disease. It usually begins in infancy or early childhood and is characterized by thrombotic microangiopathy (TMA), often presenting as atypical hemolytic uremic syndrome (aHUS)-like episodes, blood and protein in the urine, high blood pressure, and a risk of chronic kidney disease over time. Some patients present mainly with a proteinuric kidney disease or an MPGN-like pattern on kidney biopsy. Not all individuals with a mutation in the DGKEgene have all of these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DGKEgene.
Families and health professionals are welcome to share questions, clinical information, and interest in research related to DGKE nephropathy. Because this is a very rare disease, sharing knowledge may help improve diagnosis, follow-up, and future treatment.
Mathieu Lemaire, MDCM, PhD, FRCP(C), SickKids Research Institute, Toronto, Canada, mathieu.lemaire@sickkids.ca
Hadel Alsubaie, MD, SickKids Research Institute, Toronto, Canada, hadel.alsubaie@sickkids.ca