WordNet

immunological disorder in which some part of the bodys immune system is inadequate and resistance to infectious diseases is reduced
incapable of developing an immune response following exposure to an antigen; "immunodeficient rodents"

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/12 17:52:31」(JST)

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Immunodeficiency (or immune deficiency) is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent. Immunodeficiency may also decrease cancer immunosurveillance. Most cases of immunodeficiency are acquired ("secondary") but some people are born with defects in their immune system, or primary immunodeficiency. Transplant patients take medications to suppress their immune system as an anti-rejection measure, as do some patients suffering from an over-active immune system. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised person may be particularly vulnerable to opportunistic infections, in addition to normal infections that could affect everyone.

Types

By affected component

Humoral immune deficiency, with signs or symptoms depending on the cause, but generally include signs of hypogammaglobulinemia (decrease of one or more types of antibodies) with presentations including repeated mild respiratory infections, and/or agammaglobulinemia (lack of all or most antibody production) which results in frequent severe infections and is often fatal.^[1]
T cell deficiency, often causes secondary disorders such as acquired immune deficiency syndrome.^[2]
Granulocyte deficiency, including decreased numbers of granulocytes (called as granulocytopenia or, if absent, agranulocytosis) such as of neutrophil granulocytes (termed neutropenia). Granulocyte deficiencies also include decreased function of individual granulocytes, such as in chronic granulomatous disease.
Asplenia, where there is no function of the spleen
Complement deficiency is where the function of the complement system is deficient

In reality, immunodeficiency often affects multiple components, with notable examples including severe combined immunodeficiency (which is primary) and acquired immune deficiency syndrome (which is secondary).

Comparison of immunodeficiencies by affected component
	Affected components	Main causes^[3]	Main pathogens of resultant infections^[3]
Humoral immune deficiency	B cells, plasma cells or antibodies	Primary humoral Multiple myeloma Chronic lymphoid leukemia AIDS	Streptococcus pneumoniae Hemophilus influenzae Pneumocystis jirovecii Giardia intestinalis Cryptosporidium parvum
T cell deficiency	T cells	Marrow and other transplantation AIDS Cancer chemotherapy Lymphoma Glucocorticoid therapy	Intracellular pathogens, including Herpes simplex virus, Mycobacterium, Listeria,^[4] and intracellular fungal infections.^[3]
Neutropenia	Neutrophil granulocytes	Chemotherapy Bone marrow transplantation Dysfunction, such as chronic granulomatous disease	Enterobacteriaceae Oral Streptococci Pseudomonas aeruginosa Enterococcus species Candida species Aspergillus species
Asplenia	Spleen	Splenectomy Trauma Sickle-cell anemia	Polysaccharide encapsulated bacteria,^[5] particularly: Streptococcus pneumoniae^[5] Haemophilus influenzae^[5] Neisseria meningitidis^[5] Plasmodium species Babesia species
Complement deficiency	Complement system	Congenital deficiencies	Neisseria species Streptococcus pneumoniae

Primary or secondary

Distinction between primary versus secondary immunodeficiencies are based on, respectively, whether the cause originates in the immune system itself or is, in turn, due to insufficiency of a supporting component of it or an external decreasing factor of it.

Primary immunodeficiency

A number of rare diseases feature a heightened susceptibility to infections from childhood onward. Primary Immunodeficiency is also known as congenital immunodeficiencies.^[6] Many of these disorders are hereditary and are autosomal recessive or X-linked. There are over 80 recognised primary immunodeficiency syndromes; they are generally grouped by the part of the immune system that is malfunctioning, such as lymphocytes or granulocytes.^[7]

The treatment of primary immunodeficiencies depends on the nature of the defect, and may involve antibody infusions, long-term antibiotics and (in some cases) stem cell transplantation.

Secondary immunodeficiencies

Secondary immunodeficiencies, also known as acquired immunodeficiencies, can result from various immunosuppressive agents, for example, malnutrition, aging and particular medications (e.g. chemotherapy, disease-modifying antirheumatic drugs, immunosuppressive drugs after organ transplants, glucocorticoids). For medications, the term immunosuppression generally refers to both beneficial and potential adverse effects of decreasing the function of the immune system, while the term immunodeficiency generally refers solely to the adverse effect of increased risk for infection.

Many specific diseases directly or indirectly cause immunosuppression. This includes many types of cancer, particularly those of the bone marrow and blood cells (leukemia, lymphoma, multiple myeloma), and certain chronic infections. Immunodeficiency is also the hallmark of acquired immunodeficiency syndrome (AIDS),^[6] caused by the human immunodeficiency virus (HIV). HIV directly infects a small number of T helper cells, and also impairs other immune system responses indirectly.

Immunodeficiency and autoimmunity

There are a large number of immunodeficiency syndromes that present clinical and laboratory characteristics of autoimmunity. The decreased ability of the immune system to clear infections in these patients may be responsible for causing autoimmunity through perpetual immune system activation.^[8]

One example is common variable immunodeficiency (CVID) where multiple autoimmune diseases are seen, e.g. inflammatory bowel disease, autoimmune thrombocytopenia and autoimmune thyroid disease. Familial hemophagocytic lymphohistiocytosis, an autosomal recessive primary immunodeficiency, is another example. Pancytopenia, rashes, lymphadenopathy and hepatosplenomegaly are commonly seen in these patients. Presence of multiple uncleared viral infections due to lack of perforin are thought to be responsible. In addition to chronic and/or recurrent infections many autoimmune diseases including arthritis, autoimmune hemolytic anemia, scleroderma and type 1 diabetes are also seen in X-linked agammaglobulinemia (XLA). Recurrent bacterial and fungal infections and chronic inflammation of the gut and lungs are seen in chronic granulomatous disease (CGD) as well. CGD is caused by a decreased production of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase by neutrophils. Hypomorphic RAG mutations are seen in patients with midline granulomatous disease; an autoimmune disorder that is commonly seen in patients with granulomatosis with polyangiitis (Wegenr’s disease) and NK/T cell lymphomas. Wiskott-Aldrich syndrome (WAS) patients also present with eczema, autoimmune manifestations, recurrent bacterial infections and lymphoma. In autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) also autoimmunity and infections coexist: organ-specific autoimmune manifestations (e.g. hypoparathyroidism and adrenocortical failure) and chronic mucocutaneous candidiasis. Finally, IgA deficiency is also sometimes associated with the development of autoimmune and atopic phenomena.

Management

Prevention of Pneumocystis pneumonia using trimethoprim/sulfamethoxazole is useful in those who are immunocompromised.^[9]

References

^ Immunodeficiency by Dr. Saul Greenberg. University of Toronto. Last updated, on February 5, 2009
^ Medscape > T-cell Disorders. Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD. Updated: May 16, 2011
^ ^a ^b ^c If not otherwise specified in boxes, then reference for entries is: Page 432, Chapter 22, Table 22.1 in: Jones, Jane; Bannister, Barbara A.; Gillespie, Stephen H. (2006). Infection: Microbiology and Management. Wiley-Blackwell. ISBN 1-4051-2665-5.
^ Page 435 in: Jones, Jane; Bannister, Barbara A.; Gillespie, Stephen H. (2006). Infection: Microbiology and Management. Wiley-Blackwell. ISBN 1-4051-2665-5.
^ ^a ^b ^c ^d Brigden, M. L. (2001). "Detection, education and management of the asplenic or hyposplenic patient". American family physician 63 (3): 499–506, 508. PMID 11272299. edit
^ ^a ^b Basic Immunology: Functions and Disorders of the Immune System, 3rd Ed. 2011.
^ Rosen FS, Cooper MD, Wedgwood RJ (1995). "The primary immunodeficiencies". N. Engl. J. Med. 333 (7): 431–40. doi:10.1056/NEJM199508173330707. PMID 7616993.
^ Grammatikos A, Tsokos G (2012). "Immunodeficiency and autoimmunity: lessons from systemic lupus erythematosus". Trends Mol Med 18 (2): 101–108. doi:10.1016/j.molmed.2011.10.005. PMC 3278563. PMID 22177735.
^ Stern, A; Green, H; Paul, M; Vidal, L; Leibovici, L (Oct 1, 2014). "Prophylaxis for Pneumocystis pneumonia (PCP) in non-HIV immunocompromised patients.". The Cochrane database of systematic reviews 10: CD005590. doi:10.1002/14651858.CD005590.pub3. PMID 25269391.

External links

Immune Deficiency Foundation
The European Society of Immunodeficiencies Biennial Meeting
The European Society of Immunodeficiencies

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 原発性の体液性免疫不全：概要 primary humoral immunodeficiencies an overview
2. 感染症を繰り返す小児に対するアプローチ approach to the child with recurrent infections
3. 感染症を繰り返す成人に対するアプローチ approach to the adult with recurrent infections
4. 重度複合型免疫不全（SCID）：概要 severe combined immunodeficiency scid an overview
5. 成人における分類不能型免疫不全の臨床症状、疫学、および診断 clinical manifestations epidemiology and diagnosis of common variable immunodeficiency in adults

English Journal

Bacterial corneal ulcer associated with common variable immune deficiency.

Tsui E1,2, Deng J3, Siedlecki AN3, Zegans ME4,5.
Journal of ophthalmic inflammation and infection.J Ophthalmic Inflamm Infect.2016 Dec;6(1):28. doi: 10.1186/s12348-016-0098-8. Epub 2016 Aug 5.
Common variable immune deficiency (CVID) is one of the most commonly diagnosed primary immunodeficiencies. Generally, patients have a history of recurrent sinopulmonary infections, hypogammaglobulinemia of two or more immunoglobulin isotypes, and impaired functional antibody responses. Reports of co
PMID 27491761

Good syndrome and other causes of cytomegalovirus retinitis in HIV-negative patients-case report and comprehensive review of the literature.

Downes KM1, Tarasewicz D2, Weisberg LJ3, Cunningham ET Jr4,5,6,7.
Journal of ophthalmic inflammation and infection.J Ophthalmic Inflamm Infect.2016 Dec;6(1):3. doi: 10.1186/s12348-016-0070-7. Epub 2016 Jan 25.
We describe a 65-year-old Thai woman who developed cytomegalovirus retinitis (CMVR) in the setting of Good syndrome-a rare, acquired partial immune deficiency caused by thymoma. The patient subsequently developed vitritis with cystoid macular edema (CME) similar to immune recovery uveitis (IRU) desp
PMID 26809342

DNA-stabilized silver nanoclusters and carbon nanoparticles oxide: A sensitive platform for label-free fluorescence turn-on detection of HIV-DNA sequences.

Ye YD1, Xia L1, Xu DD1, Xing XJ1, Pang DW1, Tang HW2.
Biosensors & bioelectronics.Biosens Bioelectron.2016 Nov 15;85:837-43. doi: 10.1016/j.bios.2016.06.001. Epub 2016 Jun 3.
Based on the remarkable difference between the interactions of carbon nanoparticles (CNPs) oxide with single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA), and the fact that fluorescence of DNA-stabilized silver nanoclusters (AgNCs) can be quenched by CNPs oxide, DNA-functionalized AgNCs were
PMID 27295571

Japanese Journal

In Vitro Inhibition of Cytopathic Effect of Influenza Virus and Human Immunodeficiency Virus by Bamboo Leaf Extract Solution and Sodium Copper Chlorophyllin

Yonago Acta medica 59(1), 61-65, 2016-04-01
NAID 120005742207

ICUにおける免疫不全 (特集免疫不全患者における感染症の現状と展望)

最新医学 71(4), 841-846, 2016-04
NAID 40020821013

感染免疫機構と後天的に免疫不全を来す病態 (特集免疫不全患者における感染症の現状と展望)

最新医学 71(4), 764-773, 2016-04
NAID 40020820921

Related Pictures

Immunodeficiency in children Primary Immunodeficiency Diseases on Meducation immunodeficiency | PATHalamus Immunodeficiency disorders,2010 Immunodeficiency . Immunodeficiency syndromes part 2

★リンクテーブル★

リンク元	「100Cases 33」「100Cases 16」「免疫不全症候群」「immune disorder」「immunodeficient」
拡張検索	「human immunodeficiency virus gag gene product」「acquired immunodeficiency syndrome」

「100Cases 33」

Immune deficiency
Classification and external resources
ICD-10	D84.9
ICD-9	279.3
DiseasesDB	21506
Patient UK	Immunodeficiency
MeSH	D007153

　　[★]

☆case33　頭痛と混乱

■glossary

accompany

vt.

(人)と同行する、(人)に随行する。(もの)に付随する。～と同時に起こる。～に加える(添える、同封する)(with)

slurred n. 不明瞭

強直間代痙攣 tonic-clonic convulsion

　意識消失とともに全身の随意筋に強直痙攣が生じ(強直痙攣期tonic convulsion)、次いで全身の筋の強直と弛緩とが律動的に繰り返される時期(間代痙攣期clonic convulsion)を経て、発作後もうろう状態を呈する一連の発作。

■症例

28歳、女性　黒人　南アフリカ　手術室看護師　ロンドン住在

主訴：頭痛と混乱

現病歴：過去3週間で頭痛が続いており、ひどくなってきた。現在も頭痛が持続しており、頭全体が痛い。友人曰く「過去六ヶ月で体重が10kg減っていて、最近、混乱してきたようだ」。発話は不明瞭。救急室にいる間に強直間代痙攣を起こした。

・診察 examination

やせている。55kg。38.5℃。口腔カンジダ症(oral candidiasis)。リンパ節腫脹無し。心血管、呼吸器系、消化器系正常。痙攣前における神経検査では時間、場所、人の見当識無し。神経局所症状無し(no focal neurological sign)。眼底両側に乳頭浮腫有り。

・検査 investigation

血算：白血球増多

血液生化学：ナトリウム低下

CT：供覧

■キーワード＆着目するポイント

・口腔カンジダ症(oral candidiasis)

・頭痛、精神症状、強直間代痙攣

・眼底両側に乳頭浮腫

・CT 所見

・低ナトリウム血症は二次的なもの

■アプローチ

・口腔カンジダ症(oral candidiasis)　→　細胞免疫低下状態(DM、免疫抑制、AIDSなど) or 常在細菌叢の攪乱(長期の抗菌薬の使用)

　・The occurrence of thrush in a young, otherwise healthy-appearing person should prompt an investigation for underlying HIV infection.(HIM.1254)

　・More commonly, thrush is seen as a nonspecific manifestation of severe debilitating illness.(HIM.1254)

・精神症状、強直間代痙攣　→　一次的、あるいは二次的な脳の疾患がありそう

・頭痛　→　漠然としていて絞れないが、他の症状からして機能性頭痛ではなく症候性頭痛っぽい。

・眼底両側に乳頭浮腫　→　脳圧亢進の徴候　→　原因は・・・脳腫瘍、ことにテント下腫瘍と側頭葉の腫瘍、クモ膜下出血、脳水腫など、そのほか、眼窩内病変、低眼圧などの局所的要因、悪性高血圧、血液疾患、大量出血、肺気腫などの全身的要因 (vindicate本のp342も参考になる)

　・頭痛と脳圧亢進　→　頭蓋内圧占拠性病変、脳炎(IMD.274)

・CT 所見　→　ringformの病変、脳浮腫、脳圧亢進

・低ナトリウム血症　→　脳ヘルニアに続発して起こることがあるらしい。実際には下垂体にトキソプラズマによる病変が形成されることにより起こりうる。

・そのほか出身地、体重減少もHIVを疑わせる点

パターン認識でHIV + 精神症状 + てんかん発作(強直間代痙攣) + 脳圧亢進 + CT 所見 = 一番ありそうなのはToxoplasma gondiiによるトキソプラズマ脳症 cerebral toxoplasosis (トキソプラズマ脳炎 toxoplasmic encephalitis)

■Toxoplasma gondii

　原虫　胞子原虫類

(感染予防学 080521のプリント、CASES p,92、HIM p.1305-)

・疫学：西洋では30-80%の成人がトキソプラズマの感染の既往がある・・・うぇ(CASES)。日本では10%前後(Wikipedia)。

・生活環

　・終宿主：ネコ：ネコの小腸上皮細胞で有性・無性生殖　糞便にオーシストの排泄

　・中間宿主：ヒト.ブタを含むほ乳類と鳥類：無性生殖で増殖、シストの形成

　　　急性期の増殖盛んな急増虫体 tachyzoiteとシスト内の緩増虫体 bradyzoite

・病原、病因 phathogenesis

　・緩増虫体(bradyzoite)、接合子嚢(oocyst)

・感染経路

　1. オーシストの経口摂取

　2. 中間宿主の生肉中のシストの経口摂取

　3. 初感染妊婦からの経胎盤感染。既感染なら胎盤感染しないらしい(HIM.1306)

　(4)移植臓器、輸血。確率は低い(at low rate)(HIM.1306)

・病態

　1. 先天性トキソプラズマ症　congenital toxoplasmosis

　　　①網脈絡膜炎、 ②水頭症、 ③脳内石灰化、 ④精神・運動障害

　2. 後天性トキソプラズマ症　acquired toxoplasmosis

　　(1) 健常者

　　　・多くは不顕性感染。発熱、リンパ節腫脹、皮疹(rash)

　　　・(少数例)筋肉痛、暈疼痛、腹痛、斑状丘疹状皮疹(maculopapular rash)、脳脊髄炎、混乱(HIM.1308)

　　　・(まれ)肺炎、心筋炎、脳症、心膜炎、多発筋炎

　　　・網膜、脈絡叢に瘢痕や、脳に小さい炎症性の病変を残すことあり(CASES)。

　　　・急性感染の症状は数週間で消失　筋肉や中枢神経系に緩増虫体が残存

　　(2)HIV 感染者、臓器移植例、がん化学療法例

　　　シスト内緩増虫体→急増虫体→播種性の多臓器感染

　　　AIDSでは、トキソプラズマ性脳炎が指標疾患 AIDS-defineing illness(CASES)

・治療

　(日本)アセチルスピラマイシン、ファンシダール(感染予防学 080521)

■トキソプラズマ脳炎 toxoplasmic encephalitis、トキソプラズマ脳症 cerebral toxoplasosis

・症状

　発熱、頭痛、混乱ｍ、痙攣、認知の障害、局所神経徴候(不全片麻痺、歯垢、脳神経損傷、視野欠損、感覚喪失)(CASES)

・画像検査

　(CT,MRI)多発性、両側性、ring-enhancing lesion、特に灰白質-白質境界、大脳基底核、脳幹、小脳が冒されやすい(CASES)

・鑑別診断(臨床症状・画像診断の所見で)

　リンパ腫、結核、転移性脳腫瘍(CASES)

・病歴と画像所見からの鑑別診断

　リンパ腫、結核、転移性腫瘍

？

このCTがcerebral toxoplasmosisに特徴的かは不明

□最後に残る疑問

　AIDSでWBC(leukocyte)の数はどうなるんだろう？？？AIDSの初診患者ではWBCが低い人が多いらしいし()、HIVはCD4+ T cellとmacrophageに感染して殺すから、これによってB cellは減るだろうし、CD8+ T cellも若干減少するだろうからWBCは減るんじゃないか？！好中球はAIDSとは関係ない？好中球は他の感染症に反応性に増加している？ちなみに、好酸球は寄生虫(原虫)の感染のために増える傾向にあるらしい(HIMのどこか)。

葉酸拮抗剤である。

サルファ剤と併用され、抗トキソプラズマ薬、抗ニューモシチス・カリニ薬として相乗的に働く。

ST 合剤

SMX-TMP

スルファメトキサゾール・トリメトプリム合剤 sulfamethoxazole and trimethoprim mixture

□AIDSの定義(http://en.wikipedia.org/wiki/CDC_Classification_System_for_HIV_Infection_in_Adults_and_Adolescents)

According to the US CDC definition, one has AIDS if he/she is infected with HIV and present with one of the following:

A CD4+ T-cell count below 200 cells/μl (or a CD4+ T-cell percentage of total lymphocytes of less than 14%).

or he/she has one of the following defining illnesses:

01. Candidiasis of bronchi, trachea, or lungs
02. Candidiasis esophageal
03. Cervical cancer (invasive)
04. Coccidioidomycosis, disseminated or extrapulmonary
05. Cryptococcosis, extrapulmonary
06. Cryptosporidiosis, chronic intestinal for longer than 1 month
07. Cytomegalovirus disease (other than liver, spleen or lymph nodes)
08. Encephalopathy (HIV-related)
09. Herpes simplex: chronic ulcer(s) (for more than 1 month); or bronchitis, pneumonitis, or esophagitis
10. Histoplasmosis, disseminated or extrapulmonary
11. Isosporiasis, chronic intestinal (for more than 1 month)
12. Kaposi's sarcoma
13. Lymphoma Burkitt's, immunoblastic or primary brain
14. Mycobacterium avium complex
15. Mycobacterium, other species, disseminated or extrapulmonary
16. Pneumocystis carinii pneumonia
17. Pneumonia (recurrent)
18. Progressive multifocal leukoencephalopathy
19. Salmonella septicemia (recurrent)
20. Toxoplasmosis of the brain
21. Tuberculosis
22. Wasting syndrome due to HIV

People who are not infected with HIV may also develop these conditions; this does not mean they have AIDS. However, when an individual presents laboratory evidence against HIV infection, a diagnosis of AIDS is ruled out unless the patient has not:

undergone high-dose corticoid therapy or other immunosuppressive/cytotoxic therapy in the three months before the onset of the indicator disease
OR been diagnosed with Hodgkin's disease, non-Hodgkin's lymphoma, lymphocytic leukemia, multiple myeloma, or any cancer of lymphoreticular or histiocytic tissue, or angioimmunoblastic lymphoadenopathy
OR a genetic immunodeficiency syndrome atypical of HIV infection, such as one involving hypogamma globulinemia

AND

the individual has had Pneumocystis carinii pneumonia
OR one of the above defining illnesses AND a CD4+ T-cell count below 200 cells/μl (or a CD4+ T-cell percentage of total lymphocytes of less than 14%).

□AIDSのステージング

Revised World Health Organization (WHO) Clinical Staging of HIV/AIDS For Adults and Adolescents (2005)

http://en.wikipedia.org/wiki/WHO_Disease_Staging_System_for_HIV_Infection_and_Disease_in_Adults_and_Adolescents

■参考文献

HIM = Harrison's Principles of Internal Medicine 17th Edition

CASES = 100 Cases in Clinical Medicine Second edition

IMD = 内科診断学第2版

「100Cases 16」

　　[★]

☆case16　膝の痛み

■glossary

indigestion 消化障害、消化不良

■症例

80歳　男性

主訴：左膝の痛みと腫脹

現病歴：左膝の痛みを2日前から認めた。膝は発熱・腫脹しており、動かすと疼痛を生じる。時々胸焼けと消化不良が見られる。6ヶ月前のhealth checkで、高血圧(172/102mmHg)と血中クレアチニンが高い(正常高値)こと以外は正常といわれた。その4週間数回血圧を測定したが、高値が継続したため、2.5mg bendrofluamethizide(UK)/ベンドロフルメチアジド bendroflumethiazide(US)で治療を開始した。最近の血圧は138/84 mmHgであった。

喫煙歴：なし。

飲酒歴：一週間に平均4unit。

既往歴：股関節に中程度(mild)の変形性関節症

家族歴：特記なし

服薬歴：アセトアミノフェン(股関節の疼痛に対して)

身体所見 examination

　血圧 142/86mmHg。体温37.5℃。脈拍88/分。grade 2 hypertensive retinopathy(高血圧症性網膜症)。心血管系、呼吸器系に検査場異常なし。手にDIPにヘバーデン結節なし。

　左膝が発熱し腫脹している。関節内に液、patellar tap陽性。90℃以上膝関節を屈曲させると痛みを生じる。右の膝関節は正常に見える。

検査　 investigation

　生化学：白血球増多、ESR 上昇、尿素高値、グルコース高値

　単純X線：関節間隙やや狭小。それ以外に異常は認めない。

■problem list

　#1 左膝の痛み

　#2 胸焼け

　#3 消化不良

　#4 高血圧

　#5 クレアチニン正常高値

　#6 股関節の変形性リウマチ

　#7 高血圧性網膜症

■考え方

　・関節痛の鑑別診断を考える。

　・VINDICATEで考えてみてもよいでしょう。

　・関節痛の頻度としては　外傷＞慢性疾患(OAなど)＞膠原病＞脊椎疾患＞悪性腫瘍

■関節痛の鑑別疾患

DIF 282

V Vascular 血友病 hemophilia, 壊血病 scurvy, 無菌性骨壊死 aseptic bone necrosis (Osgood-Schlatter diseaseとか)

I Inflammatory 淋疾 gonorrhea, ライム病 lyme disease, 黄色ブドウ球菌 Staphylococcus, 連鎖球菌 Streptococcus, 結核 tuberculosis, 梅毒 syphilis, 風疹 rubella, 単純ヘルペス herpes simplex, HIV human immunodeficiency virus, サイトメガロウイルス cytomegalovirus

N Neoplastic disorders 骨原性肉腫 osteogenic sarcoma, 巨細胞腫 giant cell tumors

D Degenerative disorders degenerative joint disease or 変形性関節症 osteoarthritis

I Intoxication 痛風 gout (uric acid), 偽痛風 pseudogout (calcium pyrophosphate), ループス症候群 lupus syndrome of hydralazine (Apresoline) and procainamide, gout syndrome of diuretics

C Congenital and acquired malformations bring to mind the joint deformities of tabes dorsalis and syringomyelia and congenital dislocation of the hip. Alkaptonuria is also considered here.

A Autoimmune indicates (多い)関節リウマチ RA (可能性)血清病 serum sickness, 全身性エリテマトーデス lupus erythematosus, リウマチ熱 rheumatic fever, ライター症候群 Reiter syndrome, 潰瘍性大腸炎 ulcerative colitis, クローン病=限局性回腸炎 regional ileitis, 乾癬性関節炎 psoriatic arthritis (老人であり得る)リウマチ性多発筋痛症 polymyalgia rheumatica

T Trauma 外傷性滑膜炎 traumatic synovitis, tear or rupture of the collateral or cruciate ligaments, 亜脱臼 subluxation or laceration of the meniscus (semilunar cartilage), 脱臼 dislocation of the joint or patella, a 捻挫　 sprain of the joint, and fracture of the bones of the joint.

E Endcrine 先端肥大症 acromegaly, 閉経 menopause, 糖尿病 diabetes mellitus

■答え

　骨格筋系-関節炎-単関節炎-急性単関節炎

　痛風　尿酸　→　発熱、ESR↑、白血球↑

　偽痛風　ピロリン酸カルシウム

　高齢女性でチアジド系利尿薬の使用により痛風が誘発されやすい。特に腎機能低下、糖尿病の人はこのリスクが高まる。

■(BSTからの知識「)循環器領域での利尿薬

・心不全の治療において、循環血漿量を減らし、心臓の前負荷を軽減する。

・利尿薬は高尿酸血症を起こす。(けど、心不全の治療において高尿酸血症になったからといって痛風を発症している患者はみたことない)

・電解質異常を起こしやすいので、血液生化学の検査でモニタして注意する。たとえば低Kで不整脈のリスクが高まる。

・チアジド系の利尿薬は血糖を上げるし、尿酸を上げる

・長期の使用で腎機能を低下させる

■initial plan

　Dx 1. 関節液の吸引：関節液の一般検査、生化学検査、培養検査、

　　　　・白血球が増加していれば急性炎症性であることを示す。

　　　　・偏光顕微鏡で関節液を検鏡する。

　　　　　・尿酸の結晶：針状結晶。negatively birefringent

　　　　　・ピロリン酸カルシウムの結晶：positively birefringent

　Tx 1. 関節液の吸引：炎症が軽度改善

　　 2. NSAIDによる疼痛管理

　　 3. PPI：NSAID 潰瘍を予防するため

　　 4. ACE inhibitorの導入

「免疫不全症候群」

　　[★]

英: immunodeficiency syndrome, immunodeficiency
同: 免疫不全症、免疫不全 immune deficiency、immunodeficiency disease immunodeficiency disorder ID
関: 先天性免疫不全症、原発性免疫不全症、免疫不全患者

先天性免疫不全症候群

重症複合免疫不全症 severe combined immunodeficiency SCID：重篤で主なものはX連鎖劣性遺伝。T細胞-でB細胞とNK細胞は病型ごとに欠損

1. T-B+ SCID
2. T-B- SCID
3. 特殊型：Omenn症候群、X連鎖型高IgM症候群(高IgM症候群)

抗体欠乏を主徴とする免疫不全症：B細胞の内因性欠陥またはT－B細胞相互間の異常により，抗体産生が障害された疾患群で，最も頻度が高い(原発性免疫不全症の約45%)

無ガンマグロブリン血症

X連鎖無ガンマグロブリン血症()
常染色体劣性無ガンマグロブリン血症

IgGサブクラス欠損症/IgGサブクラス欠乏症(IgG subclass deficiency)/Ig heavy-chain gene deletions
IgA欠損症

その他

1. Wiskott-Aldrich症候群 WAS：血小板減少、免疫低下、湿疹。X連鎖劣性遺伝。WASpをコードする遺伝子の変異による。T細胞における免疫シナプス形成不全が本態。IgG,IgMは正常～低下、IgE, IgAは増加。リンパ球数は漸減。
2. DNA修復の欠陥

毛細血管拡張性運動失調症 ataxia telangiectasia AT：毛細血管拡張、小脳失調症、。常染色体劣性遺伝。ATM蛋白は細胞周期制御、DNA調節に関与していると考えられ、遺伝子異常により(in vitroで？)放射線高感受性、細胞周期の異常、染色体脆弱性が認められる。T細胞減少、IgA,IgE減少。IgG2,IgG4も減少。