A case of Pearson syndrome associated with multiple renal cysts

A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot ana...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 1996-10, Vol.10 (5), p.637-638
Main Authors: GÜRGEY, A, ÖZALP, I, RÖTIG, A, COSKUN, T, TEKINALP, G, ERDEM, G, AKCÖREN, Z, CAGLAR, M, BAKKALOGLU, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA, Mitochondrial - genetics
Gene Deletion
Humans
Infant
Kidneys
Male
Malformations of the urinary system
Medical sciences
Mitochondria - metabolism
Nephrology. Urinary tract diseases
Pancreatic Diseases - complications
Polycystic Kidney Diseases - etiology
Syndrome
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Summary:A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.
ISSN:0931-041X
1432-198X
DOI:10.1007/s004670050178