Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Ayami YoshimiKaori IshikawaCharlotte NiemeyerSarah C GrünertPublished in: Orphanet journal of rare diseases (2022)
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial presentation, thus PS is an important differential diagnosis in isolated hypogenerative anemia in infancy. Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the clinical course. Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the prognosis of patients with PS is dismal. Most patients die of acute lactic acidosis and multi-organ failure in early childhood. There is a great need for the development of novel therapies to alter the natural history of patients with PS.
Keyphrases
- bone marrow
- end stage renal disease
- chronic kidney disease
- mitochondrial dna
- oxidative stress
- ejection fraction
- newly diagnosed
- prognostic factors
- mesenchymal stem cells
- copy number
- peritoneal dialysis
- liver failure
- dna methylation
- stem cells
- left ventricular
- body mass index
- immune response
- dendritic cells
- patient reported outcomes
- gene expression
- weight gain
- depressive symptoms
- extracorporeal membrane oxygenation
- acute respiratory distress syndrome
- single molecule