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- Title
Nephrological abnormalities in patients with transaldolase deficiency.
- Authors
Loeffen, Yvette G. T.; Biebuyck, Nathalie; Wamelink, Mirjam M. C.; Jakobs, Cornelis; Mulder, Margot F.; Tylki-Szymańska, Anna; Fung, Cheuk-Wing; Valayannopoulos, Vassili; Bökenkamp, Arend
- 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. 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
KIDNEY diseases; NEPHROLOGY; TRANSALDOLASE; ENZYME deficiency; MULTIPLE organ failure; BODY fluids; PROTEINURIA; KIDNEY failure; METABOLIC disorders
- Publication
Nephrology Dialysis Transplantation, 2012, Vol 27, Issue 8, p3224
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/gfs061