The development of end stage renal disease in two patients with PMM2-CDG

• Main Authors: Berry, G.T (Author), Brucker, W.J (Author), Hecht, L.E (Author), Rodig, N.M (Author), Tiwary, H. (Author)
• Format: Article
• Language: English
• Published: John Wiley and Sons Inc 2022
• Subjects: acute kidney failure; Article; blood clotting disorder; case report; CDG—chronic kidney disease; child; chronic kidney failure; CKD—phosphomannosemutase-2; clinical article; clinical trial; congenital hypothyroidism; creatinine blood level; eczema; end stage renal disease; enteropathy; ESRD—toll-like receptor; female; gastrointestinal hemorrhage; gene sequence; genital system; hearing impairment; hemodialysis; hospitalization; human; hyperinsulinism; hypoalbuminemia; hypoglycemia; kidney tubule disorder; liver function; meningitis; muscle hypotonia; pancytopenia; pericardial effusion; physiology; PMM2—end stage renal disease; pregnancy; primigravida; proteinuria; retina dystrophy; seizure; thrombocytopenia; TLR—congenital disorder of glycosylation; UPC—urine protein-to-creatinine ratio
• Online Access: View Fulltext in Publisher

 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. © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.