A case of Pearson syndrome associated with multiple renal cysts

Aytemiz Gürgey; Imran Özalp; Agnes Rötig; Turgay Coşkun; Gülsevin Tekinalp; Gülsen Erdem; Zühal Akcören; Melda Caglar; Aysm Bakkaloglu

doi:10.1007/s004670050178

A case of Pearson syndrome associated with multiple renal cysts

Aytemiz Gürgey
, Imran Özalp
, Agnes Rötig
, Turgay Coşkun
, Gülsevin Tekinalp
, Gülsen Erdem
, Zühal Akcören
, Melda Caglar
, Aysm Bakkaloglu

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	637-638
Number of pages	2
Journal	Pediatric Nephrology
Volume	10
Issue number	5
DOIs	https://doi.org/10.1007/s004670050178
Publication status	Published - 1996

Keywords

Deletion
Metabolic acidosis
Mitochondrial DNA
Pearson syndrome
Renal cyst

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10.1007/s004670050178

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title = "A case of Pearson syndrome associated with multiple renal cysts",

abstract = "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.",

keywords = "Deletion, Metabolic acidosis, Mitochondrial DNA, Pearson syndrome, Renal cyst",

author = "Aytemiz G{\"u}rgey and Imran {\"O}zalp and Agnes R{\"o}tig and Turgay Co{\c s}kun and G{\"u}lsevin Tekinalp and G{\"u}lsen Erdem and Z{\"u}hal Akc{\"o}ren and Melda Caglar and Aysm Bakkaloglu",

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T1 - A case of Pearson syndrome associated with multiple renal cysts

AU - Gürgey, Aytemiz

AU - Özalp, Imran

AU - Rötig, Agnes

AU - Coşkun, Turgay

AU - Tekinalp, Gülsevin

AU - Erdem, Gülsen

AU - Akcören, Zühal

AU - Caglar, Melda

AU - Bakkaloglu, Aysm

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

KW - Deletion

KW - Metabolic acidosis

KW - Mitochondrial DNA

KW - Pearson syndrome

KW - Renal cyst

UR - https://www.scopus.com/pages/publications/0029778997

U2 - 10.1007/s004670050178

DO - 10.1007/s004670050178

M3 - Article

C2 - 8897573

AN - SCOPUS:0029778997

SN - 0931-041X

VL - 10

SP - 637

EP - 638

JO - Pediatric Nephrology

JF - Pediatric Nephrology

IS - 5

ER -

A case of Pearson syndrome associated with multiple renal cysts

Abstract

Keywords

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