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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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
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author Tiwary, Henna
Hecht, Leah E.
Brucker, William J.
Berry, Gerard T.
Rodig, Nancy M.
author_facet Tiwary, Henna
Hecht, Leah E.
Brucker, William J.
Berry, Gerard T.
Rodig, Nancy M.
author_sort Tiwary, Henna
collection PubMed
description 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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spelling pubmed-88987252022-03-11 The development of end stage renal disease in two patients with PMM2‐CDG Tiwary, Henna Hecht, Leah E. Brucker, William J. Berry, Gerard T. Rodig, Nancy M. JIMD Rep Case Reports 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. John Wiley & Sons, Inc. 2022-01-10 /pmc/articles/PMC8898725/ /pubmed/35281664 http://dx.doi.org/10.1002/jmd2.12269 Text en © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Tiwary, Henna
Hecht, Leah E.
Brucker, William J.
Berry, Gerard T.
Rodig, Nancy M.
The development of end stage renal disease in two patients with PMM2‐CDG
title The development of end stage renal disease in two patients with PMM2‐CDG
title_full The development of end stage renal disease in two patients with PMM2‐CDG
title_fullStr The development of end stage renal disease in two patients with PMM2‐CDG
title_full_unstemmed The development of end stage renal disease in two patients with PMM2‐CDG
title_short The development of end stage renal disease in two patients with PMM2‐CDG
title_sort development of end stage renal disease in two patients with pmm2‐cdg
topic Case Reports
url 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
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