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

Araştırma sonucu: Dergiye katkı › Makale › bilirkişi

38 Alıntılar (Scopus)

Özet

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.

Orijinal dil	İngilizce
Sayfa (başlangıç-bitiş)	637-638
Sayfa sayısı	2
Dergi	Pediatric Nephrology
Hacim	10
Basın numarası	5
DOI'lar	https://doi.org/10.1007/s004670050178
Yayın durumu	Yayınlandı - 1996

Belgeye Erişim

10.1007/s004670050178

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@article{19e043be35da4405a01244987ce50aa6,

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",

year = "1996",

doi = "10.1007/s004670050178",

language = "English",

volume = "10",

pages = "637--638",

journal = "Pediatric Nephrology",

issn = "0931-041X",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "5",

}

TY - JOUR

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

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