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

Henna Tiwary1, Leah E Hecht1, William J Brucker2

  • 1Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.

JIMD Reports
|March 14, 2022
PubMed

Insights

Two patients with PMM2-CDG developed end-stage renal disease (ESRD). Early nephrology consultation is recommended for PMM2-CDG patients due to the risk of acute kidney injury and accelerated ESRD progression.

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare genetic disorder.
  • Renal abnormalities are infrequently reported in PMM2-CDG patients.

Observation:

  • Two patients with PMM2-CDG experienced recurrent acute kidney injury.
  • These episodes led to accelerated progression to end-stage renal disease (ESRD).

Findings:

  • End-stage renal disease (ESRD) is a rare but severe complication of PMM2-CDG.
  • The observed cases suggest a potential link between PMM2-CDG and progressive kidney damage.

Implications:

  • Proactive nephrology involvement is crucial for managing PMM2-CDG patients.
  • Early intervention may mitigate the risk of acute kidney injury and slow ESRD progression.
Keywords:
CDG—chronic kidney diseaseCKD—phosphomannosemutase‐2ESRD—toll‐like receptorPMM2—end stage renal diseaseTLR—congenital disorder of glycosylationUPC—urine protein‐to‐creatinine ratio

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