A CASE OF PEARSON SYNDROME-ASSOCIATED WITH MULTIPLE RENAL CYSTS

Authors
GURGEY A OZALP I ROTIG A COSKUN T TEKINALP G ERDEM G AKCOREN Z CAGLAR M BAKKALOGLU A
Citation
A. Gurgey et al., A CASE OF PEARSON SYNDROME-ASSOCIATED WITH MULTIPLE RENAL CYSTS, Pediatric nephrology, 10(5), 1996, pp. 637-638
Citations number
8
Categorie Soggetti
Pediatrics,"Urology & Nephrology
Journal title
Pediatric nephrology
ISSN journal
0931041X → ACNP
Volume
10
Issue
5
Year of publication
1996
Pages
637 - 638
Database
ISI
SICI code
0931-041X(1996)10:5<637:ACOPSW>2.0.ZU;2-8
Abstract
A 41-day-old infant who had severe metabolic acidosis, anemia, bleedin g, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson s yndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examinatio n. Southern blot analysis of mitochondrial DNA obtained from periphera l blood revealed a heteroplasmic deletion of approximately 3.5 kilobas es.