Download Time course Although she had with

A ●●●● ●●●● of ●●●●●●●● ●●●●● ●●●●●●● ●●●●,
●●●●●●● improved ●●●● ●●●●●●●
in a woman with ●●●●● ●●●●●●●●●●●●.
病院の
●. ●●●●●●1, ●. ●●●●●●●1,2, ●. ●●●●●●1, ●. ●●●●●●●●1, ●. ●●●1, ●.
ロゴ等
●●●●●●●●●1, ●. ●●●●●1,2
of ●●●●●●●●●●●●●, 2Department of ●●●●●●●●● ●●●●●●●, ●●●●●●
Medical Center/ Hostpital
1Department
Introduction
●What is ●●●●●● and ●●●● ●●●●●?
●●● is a chronic ●●●●●●●●●●● disease that affects ●●●●●●●●
●●●●●●● at ●●●●●●●.
●●●● ●●●●●●●● is a major risk factor for overall morbidity and mortality in
●●●●●●.
Despite ●●● ●●●●●●●●●●, ●●● ●●●●●● or ●●●●●●● for too many
patients.
●Activation of ●●●● in ●●●●●●
In patients with ●●●, ●●●●●● complex is activated and ●●●●●● ●●●● is
inhibited.
It results in ●●●●●●●● and ●●●●●●●●●●●●●● alterations of
●●●●●●●●●●.
●●●●●● ●●●●●●●●●●●● ●●●●●●
remains to be elucidated
●What is ●●●●●● and ●●●●●
●●●●●●●●●●●● (●●●)?
●●●● is a ●●●● ●●●●●●●● serine/threonine kinase.
●●●●●●● serves as a ●●●● of ●●●●●●●
andthe
as a ●●●●
of ●●●●,
We report
first known
case
●●●●●●●●, and ●●●●●●●.
●●●● is a genetic disorder resulting from ●●●●●●.
of
Case
●●-year-old woman
●Back ground
Certainly ●●●● is a key ●●●● ●●●●●●●● ●●●●●●
●●●●●●●●●●●● ●●●●●●●●●.
●●●●●●●
is , however,
●●●● of ●●●●●●● ●●●● for
●●●●●●,
●●●●●
with a●●●●●●●●.
●●●●●●●●.
●●●● suggests that ●●●●●● of ●●●●●● is a ●●●●●● for
●●●●●●●●●●●●.
●Laboratory data
A ●●-year-old woman with ●●●●●● had been diagnosed with ●●●●.
She had been treated with ●●●●●●●●●●●●●, ●●●●●●●●● and
●●●●●●●●●●●●●●.
●Chief complaint: ●●●●● ●●●●●●
＜Blood test＞
●,●
WBC
●
Neut
●,●
●
●●
●
Lymp
/μL
/μL
/μL
BUN
●●.●
mg/dL
＜Urinalysis＞
RBC
●●
Cre
0.●●
mg/dL
WBC
<1
Na
138
mEq/L
Protein
●+
K
3.9
mEq/L
Cl
100
mEq/L
CRP
0.10
mg/dL
●●
●
×104/
μL
T-chol
●●●
mg/dL
●.●
g/dL
APTT
●●
sec
PLT
●●
×104/
μL
PT-INR
●●
Fib
●●
mg/dL
●Past medical history
AST
●●
IU/L
FDP
●●
μg/dL
●●●, ●●●●●, ●●●●● ●●●●●●●●● ●●●●●●●●●,
●●●●●●●●, ●●●●●
ALT
●●
IU/L
D-dimer
●●
μg/dL
LDH
●●
●
IU/L
ALP
●●
●
IU/L
●History of present illness
RBC
She had ●●●●● ●●●●● since ●●●●●● days before without ●●●●●●,
●●●●● or any signs of ●●●●●● ●●●●● ●●●●●●.
Hb
●Medication
●●●●, ●●●●, ●●●, ●●●● ●●●●●, ●●●●● ●●●●, aspirin
●Allergy
●●●●, ●●●●, ●●●
U-TP
●●.
●
mg/dL
uTP/uCre
●.●
●
g/g Cr
Granular cast
●
●●
●CT:
●●●●●●●●●
γ-GTP ●●●●●●
IU/L
●
●●●●●●●●●
最も病態を代表する一枚
Alb
●.●
g/dL
T-Bil
●.●
●
mg/dL
●Physical examination
BP ●●●/●● mmHg, HR ●●● bpm/reg, BT 36.2℃, SpO2 95% (room air), RR ● bpm
No conjunctival pallor, No conjunctival congestion, No lymphadenopathy
No rhonchi, rales, or wheezing
CV: RRR, nl.S1S2, no S3S4, no murmur
Soft, nondistended, normal bowel sound, nontenderness
No pitting edema
●●●●●●●●● (●●●) is ●●● of
●●●●● ●●●●.
●●●● ●●●●●●●● were a ●●● of
●●●●●●.
↓
●●●●● ●●●●●●● was not
●●●●●●● ●●●●.
She was diagnosed with ●●● ●●●●●●● due to ●●●●●●●● ●●●●●●●●●●● ●●●●.
●Time course
●● (g/dL)
●● (mg/dL)
●●●●● (IU/mL)
●●●●●●● ●●●●●●● suppressed
●●●●●
of ●●●● ●●●
●● (g/dL)
●● (mg/dL)
●●●
● mg
● mg
●●●
● mg
●●
●● mg
●● mg
●●●●●●●
● mg
●●●●
●●●●● (IU/mL)
● mg
●● mg
Although she had ●● ●●●●●●●●●● with ●●●●●● ●●●●●●●●,
concomitant with ●●●●●●●●●● drugs, such as ●●●●●●●●●●●●●l and
●●●●●●●●●,
●●●●●●●●●● ●●●●●●●●●● had not been achieved, leading to
●●●●●● ●●●●●●● ●●●●●●.
In addition, ●●●●●●●● ●●●●●●●●● of ●●●● was ●●●●●●●●●
●●●●●●●●.
Discussion
●The etiology of ●●●: ●●●●● ●●●
●●●●●●●● ●●●●●●●
In the patients with ●●●, ●●●●● ●● ●●●●● such as ●●●●●● is
overexpressed,
leading to dysfunction of ●●●●●●●
●●●●●●●●.
●
●●● cell
●●● cell
●●●●●● regulates the ●●●●●●● of ●●●●●
cells
The expression of ●●●●● in ●●●●● cells is regulated by ●●●●●●●
●●●●●●●●.
Phosphorylation of ●●●●● ●●●●●●●● factor (●●●●●) by ●●●●●2
promotes
the ●●●●●● ●●●●●●●● of ●●● ●●●●●●-●●●● ● (●●●).
In addition, ●●● and ●●●● phosphorylate ●●●●● to activate ●●●●●
●●●●●● production.
Conclusion
During the following-up, ●●● ●●●●●●●● became ●●●● and had a
●●●●●.
●●●●● is a ●●●●●● disorder leading to dysregulation of ●●●●●●
●●●●●.
She was treated with ●●●●●●●●●●●, ●●●●● ●●●
●●●●●●, for the ●●●●.
After the ●●●●●●●● of ●●●●●●, the activity of ●●●●● was
improved
and we succeeded ●●●●●●●●●●● ●●●●●●●●● of
●●●●●●●●●.
●●●●●●●●●● activates ●●●-cell
●●●●●●●●tion
In the patients with ●●●●, activation of ●●●●●●● ●●●●● skews ●●●●●
●●●●●.
Activation of ●●●●●●3 inhibit the ●●●●●●●●●● of ●●●●,
leading to ●●●●●●●tion of the ●●●●●●● population,
and expansion of ●●●●● ●●●●●●●●● ●●●●●●●●●●.
→●●●●●● may ●●●●●● ●●●●●●● in the present case.
●●●●●● inhibition in the mouse model of ●●●●●●
In ●●●●● mice, ●●●●●● inhibition with ●●●●●●● ●●●●●●●
・prevented the ●●●● in ●●●● ●●●●●●●
・prevented the ●●●●● ●●●●●●●●●●●● levels
・prolonged ●●●●● ●●●●●●●●●●●●●●●●●
→●●●●●●●●● may ●●●●●●●●● ●●●●●●
●●●●●●●●●● generally.
●●●●●●●●
●●●●●●●●●●
improved
●●●●●●● ●●●●●●●●●●●● in a
→●●●●●●● may●●●●●
●●●●●●●
the ●●●●●●● ●●●●
of
womaninwith
●●●●●●●●
●●●●●●●●●●.
●●●
the present
case.
●Adverse effect of ●●●●●●● was not ●●●●●●●●●● ●●●.
●●●●●●●● ●●●●● was not improved ●●●●●●● ●●●●●●●●●●●● in ●●●●●●●●●.