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Literature DB >> 26238250

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.

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.

Entities: Chemical Disease Species

Keywords: Anemia; Mitochondrial disorders; Pearson syndrome

Year: 2015 PMID： 26238250 PMCID： PMC4864774 DOI： 10.1007/8904_2015_470

Source DB: PubMed Journal: JIMD Rep ISSN： 2192-8304

19 in total

1. The association between haematological manifestation and mtDNA deletions in Pearson syndrome.

Authors: K Muraki; S Nishimura; Y Goto; I Nonaka; N Sakura; K Ueda
Journal: J Inherit Metab Dis Date: 1997-09 Impact factor: 4.982

2. The neurological evolution of Pearson syndrome: case report and literature review.

Authors: Hsiu-Fen Lee; Huei-Jane Lee; Ching-Shiang Chi; Chi-Ren Tsai; Te-Kau Chang; Chau-Jong Wang
Journal: Eur J Paediatr Neurol Date: 2007-04-16 Impact factor: 3.140

3. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Authors: A Superti-Furga; E Schoenle; P Tuchschmid; R Caduff; V Sabato; D DeMattia; R Gitzelmann; B Steinmann
Journal: Eur J Pediatr Date: 1993-01 Impact factor: 3.183

4. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Authors: A Rötig; T Bourgeron; D Chretien; P Rustin; A Munnich
Journal: Hum Mol Genet Date: 1995-08 Impact factor: 6.150

5. Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.

Authors: Gabriele Krauch; Ekkehard Wilichowski; Klaus G Schmidt; Ertan Mayatepek
Journal: Am J Med Genet Date: 2002-06-01

6. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors: H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal: J Pediatr Date: 1979-12 Impact factor: 4.406

7. Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Authors: Anne-Sophie Morel; Nadia Joris; Reto Meuli; Sébastien Jacquemont; Diana Ballhausen; Luisa Bonafé; Sarah Fattet; Jean-François Tolsa
Journal: Eur J Pediatr Date: 2008-06-14 Impact factor: 3.183

8. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

Authors: Agnès Atale; Patrizia Bonneau-Amati; Agnès Rötig; Alain Fischer; Stéphanie Perez-Martin; Pascale de Lonlay; Patrick Niaudet; L De Parscau; C Mousson; C Thauvin-Robinet; A Munnich; F Huet; L Faivre
Journal: Eur J Med Genet Date: 2008-11-05 Impact factor: 2.708

9. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Authors: Robert Kopajtich; Thomas J Nicholls; Joanna Rorbach; Metodi D Metodiev; Peter Freisinger; Hanna Mandel; Arnaud Vanlander; Daniele Ghezzi; Rosalba Carrozzo; Robert W Taylor; Klaus Marquard; Kei Murayama; Thomas Wieland; Thomas Schwarzmayr; Johannes A Mayr; Sarah F Pearce; Christopher A Powell; Ann Saada; Akira Ohtake; Federica Invernizzi; Eleonora Lamantea; Ewen W Sommerville; Angela Pyle; Patrick F Chinnery; Ellen Crushell; Yasushi Okazaki; Masakazu Kohda; Yoshihito Kishita; Yoshimi Tokuzawa; Zahra Assouline; Marlène Rio; François Feillet; Bénédict Mousson de Camaret; Dominique Chretien; Arnold Munnich; Björn Menten; Tom Sante; Joél Smet; Luc Régal; Abraham Lorber; Asaad Khoury; Massimo Zeviani; Tim M Strom; Thomas Meitinger; Enrico S Bertini; Rudy Van Coster; Thomas Klopstock; Agnès Rötig; Tobias B Haack; Michal Minczuk; Holger Prokisch
Journal: Am J Hum Genet Date: 2014-11-26 Impact factor: 11.025

10. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Authors: Alexander Broomfield; Mary G Sweeney; Cathy E Woodward; Carl Fratter; Andrew M Morris; James V Leonard; Lara Abulhoul; Stephanie Grunewald; Peter T Clayton; Michael G Hanna; Joanna Poulton; Shamima Rahman
Journal: J Inherit Metab Dis Date: 2014-10-29 Impact factor: 4.982

8 in total

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

1. The association between haematological manifestation and mtDNA deletions in Pearson syndrome.

2. The neurological evolution of Pearson syndrome: case report and literature review.

3. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

4. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

5. Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.

6. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

7. Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

8. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

9. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

10. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

1. Proteomic and metabolomic advances uncover biomarkers of mitochondrial disease pathophysiology and severity.

2. Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.

3. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

4. Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report.

Review 5. Mitochondrial hepatopathy: Respiratory chain disorders- 'breathing in and out of the liver'.

Review 6. Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Review 7. Development of the human pancreas and its exocrine function.

8. Clinical and genetic features of four patients with Pearson syndrome: An observational study.