Jump to ContentJump to Main Navigation
Show Summary Details
In This Section

Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600

Online
ISSN
2191-0251
See all formats and pricing
In This Section
Volume 24, Issue 1-2 (Mar 2011)

Issues

Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

Nazlı Gonc
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
/ Ozlem Engiz
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
  • Email:
/ Hartmut P.H. Neumann
  • Section of Preventive Medicine, Department of Nephrology and General Medicine, Preventive Medicine Unit, Albert-Ludwigs-University of Freiburg, Freiburg, Germany
/ Huseyin Demirbilek
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
/ Alev Ozon
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
/ Ayfer Alikasifoglu
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
/ Nurgun Kandemir
  • Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
Published Online: 2011-03-16 | DOI: https://doi.org/10.1515/jpem.2011.118

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.

Keywords: pheochromocytoma; screening; Von Hippel-Lindau disease

About the article

Corresponding author: Ozlem Engiz, Yesilvadi sok Konut Kuleleri, B Blok 39/22 Dikmen, 06450 Ankara, Turkey Phone: +90-312-3051124, Fax: +90-312-3121809


Published Online: 2011-03-16

Published in Print: 2011-03-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2011.118.

Export Citation

Comments (0)

Please log in or register to comment.
Log in