PMID- 23805377
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20211021
IS  - 2048-8505 (Print)
IS  - 2048-8513 (Electronic)
IS  - 2048-8505 (Linking)
VI  - 6
IP  - 2
DP  - 2013 Apr
TI  - Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: 
      a case report and proposed molecular pathways.
PG  - 208-210
AB  - A 42-year-old Caucasian female with history of neurofibromatosis type 1 presented 
      with nephrotic range proteinuria and focal segmental glomerulosclerosis (FSGS). 
      On final dose of lisinopril 20 mg/day, protein-creatinine ratio declined to 0.33 
      within 10 months. We propose the hypothesis that development of FSGS in NF1 may 
      be mediated by activation of mitogen-activated protein kinase (MAPK) and 
      mammalian target of rapamycin (mTOR) signaling pathways secondary to 
      up-regulation of ras proteins due to deficient neurofibromin. Since mTOR 
      signaling pathway is partially mediated through angiotensin-II activation, 
      angiotensin-converting enzyme (ACE) inhibition may serve as an effective initial 
      treatment beyond anti-proteinuric properties of ACE-inhibitors.
FAU - Afshinnia, Farsad
AU  - Afshinnia F
AD  - Division of Nephrology, Department of Internal Medicine , University of Michigan 
      , Ann Arbor, MI , USA.
FAU - Vega-Warner, Virginia
AU  - Vega-Warner V
FAU - Killen, Paul
AU  - Killen P
LA  - eng
GR  - T32 DK007378/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PL  - England
TA  - Clin Kidney J
JT  - Clinical kidney journal
JID - 101579321
PMC - PMC3693487
OTO - NOTNLM
OT  - MAPK
OT  - focal segmental glomerulosclerosis
OT  - mTOR
OT  - neurofibromatosis
EDAT- 2013/06/28 06:00
MHDA- 2013/06/28 06:01
PMCR- 2013/04/01
CRDT- 2013/06/28 06:00
PHST- 2012/11/18 00:00 [received]
PHST- 2013/01/08 00:00 [accepted]
PHST- 2013/06/28 06:00 [entrez]
PHST- 2013/06/28 06:00 [pubmed]
PHST- 2013/06/28 06:01 [medline]
PHST- 2013/04/01 00:00 [pmc-release]
AID - sft010 [pii]
AID - 10.1093/ckj/sft010 [doi]
PST - ppublish
SO  - Clin Kidney J. 2013 Apr;6(2):208-210. doi: 10.1093/ckj/sft010.