Pearson's disease
The Pearson syndrome or Pearson syndrome is an inherited disease and is one of the mitochondrial disorders . It is a multisystem disease based on a deletion of mitochondrial DNA (mtDNA) .
frequency
The disease is very rare. Fewer than 100 cases have been described in the literature so far. The prevalence is less than 1 / 1,000,000. Both sexes are affected equally often.
Symptoms
The disease manifests itself in newborns with refractory sideroblastic anemia and sometimes pancytopenia (lymphocytopenia, thrombocytopenia). The anemia is refractory to treatment, so that some patients need a transfusion. In addition, due to pancreatic fibrosis , there is exocrine pancreatic insufficiency , which leads to malabsorption and chronic diarrhea, as well as persistent or intermittent lactic acidosis . A variable involvement of other organs (liver, spleen, heart, kidneys, endocrine system) is possible. Liver involvement manifests itself with hepatomegaly, cytolysis and cholestasis . Kidney involvement is characterized by tubulopathy and aminoaciduria . Often there is also a delay in intellectual development. The disease is often fatal in infancy or early childhood due to infections or metabolic imbalances. Children who survive this stage often later develop Kearns-Sayre syndrome or Leigh syndrome , a mitochondrial disease with progressive external ophthalmoplegia and myopathy.
Diagnosis
The vacuolation of the granulocyte and erythrocyte precursors in the bone marrow smear is indicative of the diagnosis. Ringed sideroblasts can be detected with the Berlin blue staining. The final diagnosis of Pearson's syndrome is based on the detection of a singular mtDNA deletion in blood DNA. Pearson's syndrome occurs sporadically in most cases.
Differential diagnosis
To be delimited is u. a. the GRACILE syndrome or Rogers syndrome .
therapy
A causal therapy is not possible. In addition to symptomatic therapy ( transfusions for anemia, antibiotic therapy for infectious events, administration of pancreatic enzymes ( pancreatin , rizoenzymes ) and the control of endocrine disorders), stem cell therapy is currently being tested.
literature
- DR Thorburn, HH Dahl: Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. In: Am J Med Genet. 2001; 106 (1), pp. 102-114. PMID 11579429