PMID- 29813043
OWN - NLM
STAT- MEDLINE
DCOM- 20180924
LR  - 20180924
IS  - 1426-9686 (Print)
IS  - 1426-9686 (Linking)
VI  - 44
IP  - 263
DP  - 2018 May 25
TI  - [Von Hippel-Lindau syndrome - a case report].
PG  - 248-252
AB  - Von Hippel-Lindau disease (vHL, familial cerebello-retinal angiomatosis) is a 
      rare genetic autosomal dominant disorder associated with predisposition to 
      vascular tumors. Mutations of VHL tumor suppressor gene, located on chromosome 
      3p25-26, are responsible for clinical manifestation of the disease. The VHL gene 
      product encodes VHL protein, which is responsible for HIF-1 (hypoxia-inducible 
      factor-1) dependent cell cycle regulation and cellular pathways mediated by VEGF, 
      PDGF, TGF-alpha, EPO. The mechanism substantiates the hypoxia dependent vascular 
      tumor growth caused by loss of wild-type VHL protein. The clinical spectrum of 
      vHL syndrome includes multiple tumors of various localization and low histologic 
      grade, often bilateral. The most typical for the syndrome are: hemangioblastoma 
      of central nervous system (typically posterior fossa or medulla), retinal 
      hemangioblastoma, renal cell carcinoma and pheochromocytoma. The aim of the case 
      report is to remind the typical clinical manifestation of von Hippel- Lindau 
      syndrome, update the diagnostic criteria, recommended diagnostic and follow up 
      methods.
CI  - (c) 2018 MEDPRESS.
FAU - Figlus, Malgorzata
AU  - Figlus M
AD  - Department of Neurology and Stroke, Medical University of Lodz, University 
      Clinical Hospital, Lodz, Poland.
FAU - Kaczorowska, Beata
AU  - Kaczorowska B
AD  - Department of Neurology and Stroke, Medical University of Lodz, University 
      Clinical Hospital, Lodz, Poland.
FAU - Jaskolski, Dariusz J
AU  - Jaskolski DJ
AD  - Department of Neurosurgery and Neurooncology, Medical University of Lodz, 
      University Hospital, Lodz, Poland.
FAU - Kepczynski, Lukasz
AU  - Kepczynski L
AD  - Molecular Biology Unit, Department of Internal Diseases and Nephrodiabetology, 
      Medical University of Lodz, University Clinical Hospital , Lodz, Poland.
LA  - pol
PT  - Case Reports
PT  - Journal Article
TT  - Von Hippel-Lindau syndrome - a case report.
PL  - Poland
TA  - Pol Merkur Lekarski
JT  - Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
JID - 9705469
RN  - EC 2.3.2.27 (Von Hippel-Lindau Tumor Suppressor Protein)
RN  - EC 6.3.2.- (VHL protein, human)
SB  - IM
MH  - Adult
MH  - Exons
MH  - Female
MH  - Humans
MH  - Kidney Neoplasms/etiology/surgery
MH  - *Palliative Care
MH  - *Sequence Deletion
MH  - Von Hippel-Lindau Tumor Suppressor Protein/*genetics
MH  - von Hippel-Lindau Disease/complications/*diagnosis/metabolism/therapy
OTO - NOTNLM
OT  - familial cerebello-retinal angiomatosis
OT  - hemangioblastoma
OT  - von Hipple-Lindau syndrome
EDAT- 2018/05/31 06:00
MHDA- 2018/09/25 06:00
CRDT- 2018/05/30 06:00
PHST- 2018/05/30 06:00 [entrez]
PHST- 2018/05/31 06:00 [pubmed]
PHST- 2018/09/25 06:00 [medline]
AID - PML263-248 [pii]
PST - ppublish
SO  - Pol Merkur Lekarski. 2018 May 25;44(263):248-252.