PMM2-CDG and nephrotic syndrome: A case report
Giuseppe Banderali1, Elisabetta Salvatici1, Valentina Rovelli1
1Clinical Department of Pediatrics ASST Santi Paolo Carlo San Paolo Hospital University of Milan Milan Italy.
Clinical Case Reports
|February 14, 2022
Summary
Congenital disorders of glycosylation (CDG) can affect multiple systems, including the kidneys. This case highlights phosphomannomutase 2 deficiency (PMM2-CDG) presenting as nephrotic syndrome in a child.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Congenital disorders of glycosylation (CDG) are rare inherited metabolic diseases impacting protein modification.
- Defects in glycosylation enzymes lead to widespread systemic effects and diverse clinical presentations.
- Nephrotic syndrome (NS) is a kidney disorder marked by proteinuria, edema, and low albumin levels.
Observation:
- A pediatric patient presented with central hypotonia, epilepsy, and severe psychomotor delay.
- The patient developed nephrotic syndrome at four years of age.
- Diagnostic investigations revealed phosphomannomutase 2 deficiency (PMM2-CDG).
Findings:
- PMM2-CDG, a specific type of CDG, was identified as the underlying cause.
- The patient's neurological symptoms and nephrotic syndrome were linked to this genetic defect.
- This case demonstrates a rare presentation of PMM2-CDG.
Implications:
- Early diagnosis of PMM2-CDG is crucial for managing associated complications like nephrotic syndrome.
- Understanding the phenotypic variability of CDG is essential for clinical recognition.
- This case contributes to the literature on PMM2-CDG and its renal manifestations.
Keywords:
CDGPMM2‐CDGcongenital disorders of glycosylationnephrotic syndromephosphomannomutase 2 deficiencyrenal involvementMore Related Videos
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