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2017 ; 7
(1
): 9686
Nephropedia Template TP
gab.com Text
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Twit Text #
English Wikipedia
Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear
factor kappa ligand are elevated in hypertrophic gastric mucosa of
pachydermoperiostosis
#MMPMID28851954
Huang H
; Wang Y
; Cao Y
; Wu B
; Li Y
; Fan L
; Tan Z
; Jiang Y
; Tang J
; Hu J
; Shi X
Sci Rep
2017[Aug]; 7
(1
): 9686
PMID28851954
show ga
Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized
with digital clubbing, pachydermia and periostosis. Variants in either HPGD or
SLCO2A1 that interrupt the prostaglandin E2 (PGE(2)) pathway have been shown to
be involved in PDP. Here, in addition to six confirmed variants in HPGD or
SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from
seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed
in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha
(TNF?) and receptor activator of nuclear factor kappa ligand (RANKL) expression
were elevated in hypertrophic gastric mucosa. Two of eight patients who had
severe arthralgia were treated with celecoxib. After three months, their
arthralgia was partly relieved and IL-6, TNF? and RANKL expression were decreased
in accordance with their relieved hypertrophic gastric mucosa. Our study broadens
the variation spectrum of SLCO2A1 and suggests that the gastric mucosa
hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be
a considerable choice for PDP patients. We also revealed that IL-6, TNF? and
RANKL may play important roles in the molecular mechanisms of gastric mucosa
hyperplasia in PDP for the first time.