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

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 assoc...

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Detalles Bibliográficos
Autores principales: Tiwary, Henna, Hecht, Leah E., Brucker, William J., Berry, Gerard T., Rodig, Nancy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898725/
https://www.ncbi.nlm.nih.gov/pubmed/35281664
http://dx.doi.org/10.1002/jmd2.12269
Descripción
Sumario: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.

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