| Autor: |
Baldo Martire, Paola Corti, Francesca Fioredda, Alessandra Macaluso, Maria E. Cantarini, Giuseppe Puccio, Laura Lo Valvo, Isabella Moroni, Giovanna Russo, Piero Farruggia, Marta Pillon, Elena Palmisani, Carlo Dufour, Stefania Varotto, Assunta Tornesello, Andrea Di Cataldo, Rita Maria Pinto |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
JIMD Reports ISBN: 9783662498323 |
| ISSN: |
1993-2014 |
| DOI: |
10.1007/8904_2015_470 |
| Popis: |
Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder involving the liver, kidney, pancreas, and hematopoietic and central nervous system. It is characterized principally by a transfusion-dependent anemia that usually improves over time, a tendency to develop severe infections, and a high mortality rate. We describe a group of 11 PS patients diagnosed in Italy in the period 1993-2014. The analysis of this reasonably sized cohort of patients contributes to the clinical profile of the disease and highlights a rough incidence of 1 case/million newborns. Furthermore, it seems that some biochemical parameters like increased serum alanine and urinary fumaric acid can help to address an early diagnosis. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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