Pearson syndrome

Pearson syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 32159
ICD10 =
ICD9 =
ICDO =
OMIM = 557000
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1750
MeshID =

Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. 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, [cite journal |author=Pearson HA, Lobel JS, Kocoshis SA, "et al" |title=A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction |journal=J. Pediatr. |volume=95 |issue=6 |pages=976–84 |year=1979 |pmid=501502 |doi=] the deletions causing it were discovered a decade later. [cite journal |author=Rotig A, Colonna M, Bonnefont JP, "et al" |title=Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome |journal=Lancet |volume=1 |issue=8643 |pages=902–3 |year=1989 |pmid=2564980 |doi=]

References

External links

* [http://www.geneclinics.org/profiles/mt-overview GeneReviews: Pearson syndrome]


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