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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 ●●●●●●●●●.