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RESEARCH PRODUCT

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Baldo MartirePaola CortiFrancesca FioreddaAlessandra MacalusoMaria E. CantariniGiuseppe PuccioLaura Lo ValvoIsabella MoroniGiovanna RussoPiero FarruggiaMarta PillonElena PalmisaniCarlo DufourStefania VarottoAssunta TorneselloAndrea Di CataldoRita Maria Pinto

subject

Mitochondrial disordersmedicine.medical_specialtyAnemiabusiness.industryUrinary systemMortality rateIncidence (epidemiology)AnemiaRetrospective cohort studyDiseasemedicine.diseaseGastroenterologyArticleSurgeryAnemia; Mitochondrial disorders; Pearson syndromeInternal medicineCohortmedicinePearson syndromebusinessPearson syndrome

description

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.

yearjournalcountryeditionlanguage
2015-08-04
https://doi.org/10.1007/8904_2015_470