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Nephrological abnormalities in patients with transaldolase deficiency
- Source :
- Loeffen, Y G T, Biebuyck, N, Wamelink, M M C, Jakobs, C A J M, Mulder, M F, Tylki-Szymanska, A, Fung, C W, Valayannopoulos, V & Bokenkamp, A 2012, ' Nephrological abnormalities in patients with transaldolase deficiency ', Nephrology, Dialysis, Transplantation, vol. 27, no. 8, pp. 3224-3227 . https://doi.org/10.1093/ndt/gfs061, Nephrology, Dialysis, Transplantation, 27(8), 3224-3227. Oxford University Press
- Publication Year :
- 2012
-
Abstract
- Background. Transaldolase deficiency (OMIM 606003) is a multisystem disorder first described in 2001. Transaldolase is an enzyme of the reversible part of the pentose phosphate pathway. Affected patients have abnormal polyol concentrations in body fluids, mostly in urine. The clinical presentation is variable. The leading symptoms are coagulopathy, thrombocytopenia, hepatosplenomegaly, hepatic fibrosis and dysmorphic features. The objective of our study was to attempt to characterize the renal phenotype of patients with transaldolase deficiency. Methods. Clinical and laboratory data of all nine patients with transaldolase deficiency presently known were gathered by retrospective chart analysis. Results. Nephrological abnormalities were present in seven of the nine patients. The most common findings were low molecular weight (LMW) proteinuria and hypercalciuria. The two oldest patients had moderate chronic kidney failure. In two patients, generalized aminoaciduria was found, two patients had renal phosphate wasting and three patients had hyperchloremic metabolic acidosis. Three patients had anatomical abnormalities. Conclusions. Renal tubular dysfunction is present in the majority of patients with transaldolase deficiency and may lead to chronic renal failure. The combination of unexplained liver dysfunction with LMW proteinuria should prompt metabolic screening for transaldolase deficiency by measuring urinary polyols. In patients with transaldolase deficiency, monitoring of kidney function is mandatory.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
Hypercalciuria
Hepatosplenomegaly
Kidney
Transaldolase deficiency
Gastroenterology
Pentose Phosphate Pathway
Renal tubular dysfunction
Internal medicine
medicine
Humans
Child
Retrospective Studies
Transplantation
Proteinuria
business.industry
Infant, Newborn
Infant
medicine.disease
Transaldolase
medicine.anatomical_structure
Endocrinology
Nephrology
Child, Preschool
Aminoaciduria
Kidney Failure, Chronic
Female
medicine.symptom
business
Carbohydrate Metabolism, Inborn Errors
Glomerular Filtration Rate
Subjects
Details
- ISSN :
- 09310509
- Database :
- OpenAIRE
- Journal :
- Loeffen, Y G T, Biebuyck, N, Wamelink, M M C, Jakobs, C A J M, Mulder, M F, Tylki-Szymanska, A, Fung, C W, Valayannopoulos, V & Bokenkamp, A 2012, ' Nephrological abnormalities in patients with transaldolase deficiency ', Nephrology, Dialysis, Transplantation, vol. 27, no. 8, pp. 3224-3227 . https://doi.org/10.1093/ndt/gfs061, Nephrology, Dialysis, Transplantation, 27(8), 3224-3227. Oxford University Press
- Accession number :
- edsair.doi.dedup.....99378c9abdd4c96365d3f763903294fe