Cyclosporine A relieved proteinuria and hypoproteinemia in DGKE nephropathy.

Abstract Background The DGKE gene encodes the diacylglycerol kinase epsilon (DGKe). Loss-of-function mutations of DGKE caused a group of rare renal diseases, which are called DGKE nephropathy. We report the clinical manifestations and therapeutic effects of a patient diagnosed with DGKE nephropathy. Case report The patient’s initial symptoms were fever, diarrhea, eyelid edema, acute anemia, acute thrombocytopenia, an elevation of plasm D-dimer, proteinuria, microscopic hematuria, without oliguria or renal insufficiency at his age of 7.6 months. Hemolytic uremic syndrome was diagnosed. His proteinuria and hematuria turned out to be negative 2-month later. Proteinuria was noticed at his age of 5.5-year old when he was brought to the hospital because of failure to thrive. Since then, he had been noticed with persistent proteinuria. Results Genetic analysis revealed 2 novel heterozygous mutations on DGKE at his 9.8-y old. Renal pathology mimicked membrane proliferative glomerulonephritis (MPGN). Conclusions After a 5-month treatment of cyclosporine A (CsA), his proteinuria and hypoproteinemia have relieved apparently. We also observed an improvement of his growth.