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.
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.
Authors: Patryk Lipiński; Joanna Pawłowska; Teresa Stradomska; Elżbieta Ciara; Irena Jankowska; Piotr Socha; Anna Tylki-Szymańska Journal: JIMD Rep Date: 2018-01-03
Authors: Peggy Sekula; Oemer-Necmi Goek; Lydia Quaye; Clara Barrios; Andrew S Levey; Werner Römisch-Margl; Cristina Menni; Idil Yet; Christian Gieger; Lesley A Inker; Jerzy Adamski; Wolfram Gronwald; Thomas Illig; Katja Dettmer; Jan Krumsiek; Peter J Oefner; Ana M Valdes; Christa Meisinger; Josef Coresh; Tim D Spector; Robert P Mohney; Karsten Suhre; Gabi Kastenmüller; Anna Köttgen Journal: J Am Soc Nephrol Date: 2015-10-08 Impact factor: 10.121
Authors: Anna Stincone; Alessandro Prigione; Thorsten Cramer; Mirjam M C Wamelink; Kate Campbell; Eric Cheung; Viridiana Olin-Sandoval; Nana-Maria Grüning; Antje Krüger; Mohammad Tauqeer Alam; Markus A Keller; Michael Breitenbach; Kevin M Brindle; Joshua D Rabinowitz; Markus Ralser Journal: Biol Rev Camb Philos Soc Date: 2014-09-22