Pearson syndrome
From Wikipedia, the free encyclopedia
| Pearson syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 557000 |
| DiseasesDB | 32159 |
| eMedicine | ped/1750 |
| GeneReviews | |
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns-Sayre syndrome.
It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than hundred cases have been reported in medical literature worldwide.
The syndrome was first described by Pearson in 1979,[1] the deletions causing it were discovered a decade later.[2]
References
- ↑ Pearson HA, Lobel JS, Kocoshis SA et al. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction". J. Pediatr. 95 (6): 976–84. doi:10.1016/S0022-3476(79)80286-3. PMID 501502.
- ↑ Rotig A, Colonna M, Bonnefont JP et al. (1989). "Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome". Lancet 1 (8643): 902–3. doi:10.1016/S0140-6736(89)92897-3. PMID 2564980.
External links
- Pearson Syndrome research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
- GeneReviews: Pearson syndrome
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