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Published on: June 20, 2018
Nephrological abnormalities in patients with transaldolase deficiency
Yvette G T Loeffen1, Nathalie Biebuyck, Mirjam M C Wamelink
1Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
Summary
Transaldolase deficiency causes kidney problems in most patients, including low molecular weight proteinuria and hypercalciuria, potentially leading to chronic kidney failure. Early metabolic screening is recommended for unexplained liver issues.
Area of Science:
- Biochemistry
- Metabolic disorders
- Genetics
Background:
- Transaldolase deficiency (OMIM 606003) is a rare multisystem disorder impacting the pentose phosphate pathway.
- Clinical features are variable, often including coagulopathy, thrombocytopenia, and liver dysfunction.
Observation:
- This study aimed to characterize the renal phenotype in nine patients with transaldolase deficiency.
- Data was collected via retrospective chart analysis of clinical and laboratory findings.
Findings:
- Seven out of nine patients exhibited nephrological abnormalities.
- Common findings included low molecular weight (LMW) proteinuria and hypercalciuria.
- Other renal issues observed were aminoaciduria, phosphate wasting, metabolic acidosis, and anatomical abnormalities.
Implications:
- Renal tubular dysfunction is a significant feature of transaldolase deficiency, potentially progressing to chronic kidney failure.
- Unexplained liver dysfunction combined with LMW proteinuria warrants metabolic screening for transaldolase deficiency.
- Regular kidney function monitoring is crucial for patients diagnosed with transaldolase deficiency.
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