The development of end stage renal disease in two patients with PMM2‐CDG
Copyright policy )The development of end stage renal disease in two patients with PMM2‐CDG
AbstractWe 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.
- Harvard University United States
- Boston Children's Hospital United States
- Harvard Medical School United States
- Hasbro Children's Hospital United States
UPC—urine protein‐to‐creatinine ratio, ESRD—toll‐like receptor, PMM2—end stage renal disease, Case Reports, QH426-470, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, CDG—chronic kidney disease, Genetics, CKD—phosphomannosemutase‐2, TLR—congenital disorder of glycosylation
UPC—urine protein‐to‐creatinine ratio, ESRD—toll‐like receptor, PMM2—end stage renal disease, Case Reports, QH426-470, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, CDG—chronic kidney disease, Genetics, CKD—phosphomannosemutase‐2, TLR—congenital disorder of glycosylation
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