We report two patients with PMM2-CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2-CDG and have rarely been reported as the cause of death. Given the recurrent episodes of acute kidney injury associated with hospital admissions and the accelerated development of ESRD thereafter in our two patients, we recommend proactively involving Nephrology early in the care of these patients.
Keywords: CDG—chronic kidney disease; CKD—phosphomannosemutase‐2; ESRD—toll‐like receptor; PMM2—end stage renal disease; TLR—congenital disorder of glycosylation; UPC—urine protein‐to‐creatinine ratio.
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