Patryk Lipiński1, Joanna Pawłowska1, Teresa Stradomska2, Elżbieta Ciara3, Irena Jankowska1, Piotr Socha1, Anna Tylki-Szymańska4. 1. Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children's Memorial Health Institute, Warsaw, Poland. 2. Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland. 3. Department of Molecular Genetics, The Children's Memorial Health Institute, Warsaw, Poland. 4. Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. a.tylki@czd.pl.
Abstract
INTRODUCTION: Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO. METHODS AND RESULTS: We report four patients who manifested early onset TALDO. They were monitored with systematic clinical and laboratory examinations for 4-13 years. The dominant feature was an early liver injury, with subsequent renal tubulopathy. All patients presented with osteopenia and poor physical development. Our data shows that polyol concentrations seem to decrease with age. CONCLUSIONS: In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.
INTRODUCTION:Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO. METHODS AND RESULTS: We report four patients who manifested early onset TALDO. They were monitored with systematic clinical and laboratory examinations for 4-13 years. The dominant feature was an early liver injury, with subsequent renal tubulopathy. All patients presented with osteopenia and poor physical development. Our data shows that polyol concentrations seem to decrease with age. CONCLUSIONS: In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.
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