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

doi:10.1007/8904_2015_470

. 2016:26:37-43.

doi: 10.1007/8904_2015_470. Epub 2015 Aug 4.

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

Piero Farruggia¹, Andrea Di Cataldo², Rita M Pinto³, Elena Palmisani⁴, Alessandra Macaluso⁵, Laura Lo Valvo², Maria E Cantarini⁶, Assunta Tornesello⁷, Paola Corti⁸, Francesca Fioredda⁴, Stefania Varotto⁹, Baldo Martire¹⁰, Isabella Moroni¹¹, Giuseppe Puccio¹², Giovanna Russo², Carlo Dufour⁴, Marta Pillon⁹

Affiliations

¹ Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy. farruggia.oep@ospedalecivicopa.org.
² Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
³ Oncoematologia Pediatrica, Ospedale Bambino Gesù, Rome, Italy.
⁴ Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
⁵ Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
⁶ Dipartimento di Oncoematologia Pediatrica, "Lalla Seragnoli" Clinica Pediatrica Policlinico Sant'Orsola Malpighi, Bologna, Italy.
⁷ Oncoematologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy.
⁸ Fondazione MBBM, Clinica Pediatrica, Università di Milano - Bicocca, A.O. San Gerardo, Monza, Italy.
⁹ Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy.
¹⁰ Dipartimento di Scienze e Chirurgia Pediatriche, U. O. Oncoematologia Pediatrica, Ospedale Policlinico-Giovanni XXIII, Bari, Italy.
¹¹ Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
¹² Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.

PMID: 26238250
PMCID: PMC4864774
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 et al. JIMD Rep. 2016.

. 2016:26:37-43.

doi: 10.1007/8904_2015_470. Epub 2015 Aug 4.

Authors

Affiliations

¹ Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy. farruggia.oep@ospedalecivicopa.org.
² Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
³ Oncoematologia Pediatrica, Ospedale Bambino Gesù, Rome, Italy.
⁴ Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
⁵ Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
⁶ Dipartimento di Oncoematologia Pediatrica, "Lalla Seragnoli" Clinica Pediatrica Policlinico Sant'Orsola Malpighi, Bologna, Italy.
⁷ Oncoematologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy.
⁸ Fondazione MBBM, Clinica Pediatrica, Università di Milano - Bicocca, A.O. San Gerardo, Monza, Italy.
⁹ Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy.
¹⁰ Dipartimento di Scienze e Chirurgia Pediatriche, U. O. Oncoematologia Pediatrica, Ospedale Policlinico-Giovanni XXIII, Bari, Italy.
¹¹ Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
¹² Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.

PMID: 26238250
PMCID: PMC4864774
DOI: 10.1007/8904_2015_470

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.

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References

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[1] Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. Eur J Med Genet. 2009;52(1):23–26. doi: 10.1016/j.ejmg.2008.10.003. - DOI - PubMed

[2] Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. Eur J Med Genet. 2009;52(1):23–26. doi: 10.1016/j.ejmg.2008.10.003. - DOI - PubMed

[3] Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. 2015;38(3):445–457. doi: 10.1007/s10545-014-9778-4. - DOI - PMC - PubMed

[4] Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. 2015;38(3):445–457. doi: 10.1007/s10545-014-9778-4. - DOI - PMC - PubMed

[5] R Development Core Team (2011) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna. ISBN 3-900051-07-0. http://www.R-project.org/

[6] R Development Core Team (2011) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna. ISBN 3-900051-07-0. http://www.R-project.org/

[7] Gagne KE, Ghazvinian R, Yuan, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S (2014) Pearson marrow pancreas syndrome in patients suspected to have Diamond–Blackfan anemia. Blood 124(3):437–440 - PMC - PubMed

[8] Gagne KE, Ghazvinian R, Yuan, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S (2014) Pearson marrow pancreas syndrome in patients suspected to have Diamond–Blackfan anemia. Blood 124(3):437–440 - PMC - PubMed

[9] Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. 1992;121(6):940–942. doi: 10.1016/S0022-3476(05)80348-8. - DOI - PubMed

[10] Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. 1992;121(6):940–942. doi: 10.1016/S0022-3476(05)80348-8. - DOI - PubMed

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

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

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