Pearson syndrome: A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Piero Farruggia; Andrea Di Cataldo; Rita M. Pinto; Elena Palmisani; Alessandra Macaluso; Laura Lo Valvo; Maria E. Cantarini; Assunta Tornesello; Paola Corti; Francesca Fioredda; Stefania Varotto; Baldo Martire; Isabella Moroni; Giuseppe Puccio; Giovanna Russo; Carlo Dufour; Marta Pillon

doi:10.1007/8904_2015_470

Pearson syndrome: A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Piero Farruggia, Andrea Di Cataldo, Rita M. Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E. Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda, Stefania Varotto, Baldo Martire, Isabella Moroni, Giuseppe Puccio, Giovanna Russo, Carlo Dufour, Marta Pillon

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

49 Scopus citations

Abstract

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.

Original language	English
Title of host publication	JIMD Reports
Publisher	Springer
Pages	37-43
Number of pages	7
DOIs	https://doi.org/10.1007/8904_2015_470
State	Published - 2016
Externally published	Yes

Publication series

Name	JIMD Reports
Volume	26
ISSN (Print)	2192-8304
ISSN (Electronic)	2192-8312

Keywords

Anemia
Mitochondrial disorders
Pearson syndrome

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/8904_2015_470

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Farruggia, P., Di Cataldo, A., Pinto, R. M., Palmisani, E., Macaluso, A., Valvo, L. L., Cantarini, M. E., Tornesello, A., Corti, P., Fioredda, F., Varotto, S., Martire, B., Moroni, I., Puccio, G., Russo, G., Dufour, C., & Pillon, M. (2016). Pearson syndrome: A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). In JIMD Reports (pp. 37-43). (JIMD Reports; Vol. 26). Springer. https://doi.org/10.1007/8904_2015_470

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abstract = "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.",

keywords = "Anemia, Mitochondrial disorders, Pearson syndrome",

author = "Piero Farruggia and {Di Cataldo}, Andrea and Pinto, {Rita M.} and Elena Palmisani and Alessandra Macaluso and Valvo, {Laura Lo} and Cantarini, {Maria E.} and Assunta Tornesello and Paola Corti and Francesca Fioredda and Stefania Varotto and Baldo Martire and Isabella Moroni and Giuseppe Puccio and Giovanna Russo and Carlo Dufour and Marta Pillon",

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year = "2016",

doi = "10.1007/8904_2015_470",

language = "English",

series = "JIMD Reports",

publisher = "Springer",

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Farruggia, P, Di Cataldo, A, Pinto, RM, Palmisani, E, Macaluso, A, Valvo, LL, Cantarini, ME, Tornesello, A, Corti, P, Fioredda, F, Varotto, S, Martire, B, Moroni, I, Puccio, G, Russo, G, Dufour, C & Pillon, M 2016, Pearson syndrome: A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). in JIMD Reports. JIMD Reports, vol. 26, Springer, pp. 37-43. https://doi.org/10.1007/8904_2015_470

TY - CHAP

T1 - Pearson syndrome

T2 - A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

AU - Farruggia, Piero

AU - Di Cataldo, Andrea

AU - Pinto, Rita M.

AU - Palmisani, Elena

AU - Macaluso, Alessandra

AU - Valvo, Laura Lo

AU - Cantarini, Maria E.

AU - Tornesello, Assunta

AU - Corti, Paola

AU - Fioredda, Francesca

AU - Varotto, Stefania

AU - Martire, Baldo

AU - Moroni, Isabella

AU - Puccio, Giuseppe

AU - Russo, Giovanna

AU - Dufour, Carlo

AU - Pillon, Marta

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Anemia

KW - Mitochondrial disorders

KW - Pearson syndrome

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DO - 10.1007/8904_2015_470

M3 - Chapter

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SP - 37

EP - 43

BT - JIMD Reports

PB - Springer

ER -

Pearson syndrome: A retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Abstract

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Keywords

UN SDGs

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