Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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 Farruggia  1 , Andrea Di Cataldo  2 , Rita M Pinto  3 , Elena Palmisani  4 , Alessandra Macaluso  5 , Laura Lo Valvo  2 , Maria E Cantarini  6 , Assunta Tornesello  7 , Paola Corti  8 , Francesca Fioredda  4 , Stefania Varotto  9 , Baldo Martire  10 , Isabella Moroni  11 , Giuseppe Puccio  12 , Giovanna Russo  2 , Carlo Dufour  4 , Marta Pillon  9
Affiliations

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.

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Kaplan Meier survival curve
See this image and copyright information in PMC

References

    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
    1. 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
    1. 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/
    1. 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
    1. 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

LinkOut - more resources