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Renal involvement in PMM2-CDG, a mini-review
Ruqaiah Altassan1, Peter Witters2, Zubaida Saifudeen3
1Medical Genetic Department, Montréal Children Hospital, McGill University, Montreal, Canada; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Molecular Genetics and Metabolism
|December 13, 2017
Summary
Phosphomannomutase 2 deficiency (PMM2-CDG), a common N-linked glycosylation disorder, frequently involves the kidneys. This review found renal abnormalities in 56 patients, with congenital issues and proteinuria being most common.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Phosphomannomutase 2 deficiency (PMM2-CDG) is the most prevalent N-linked glycosylation disorder.
- PMM2-CDG typically presents with a multisystem phenotype affecting the central nervous system, liver, gastrointestinal tract, heart, endocrine system, and coagulation.
- Renal abnormalities, including congenital malformations and functional alterations, are recognized manifestations of congenital disorders of glycosylation.
Purpose of the Study:
- To evaluate the incidence and spectrum of renal involvement in PMM2-CDG.
- To identify common renal manifestations associated with PMM2 deficiency.
- To determine if specific PMM2 alleles correlate with renal manifestations.
Main Methods:
- A comprehensive literature review was conducted.
- Data from 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency were analyzed.
- Reported renal abnormalities in PMM2-CDG patients were systematically collected and summarized.
Main Results:
- Renal abnormalities were reported in 56 out of 933 patients (approximately 6%).
- Congenital renal abnormalities were present in 41 patients, with cystic kidney and mild proteinuria being the most frequent findings.
- Congenital nephrotic syndrome was observed in 6 children, representing a severe renal manifestation.
Conclusions:
- Renal involvement is a significant, though not universal, feature of PMM2-CDG.
- The specific PMM2 alleles did not appear to be associated with the presence or type of renal manifestations.
- This review highlights the importance of considering renal evaluation in patients with PMM2-CDG due to the impact of abnormal glycosylation on kidney health.
