WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/02 18:40:26」(JST)

wiki en

Hartnup disease has an autosomal recessive pattern of inheritance.

Hartnup disease (also known as "pellagra-like dermatosis"^[1] and "Hartnup disorder"^[2]) is an autosomal recessive^[3] metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin and niacin). Niacin is a precursor to nicotinamide, a necessary component of NAD+.^[4]^:541

The causative gene, SLC6A19, is located on chromosome 5.^[5]

Causes[edit source | edit]

Hartnup disease is inherited as an autosomal recessive trait. Heterozygotes are normal. Consanguinity is common. In 2004, a causative gene, SLC6A19, was located on band 5p15.33. SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in the kidneys and intestine.^[6]

Symptoms[edit source | edit]

Hartnup disease manifests during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor.

Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine.

Pellagra, a similar condition, is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea and dementia.

Hartnup disease is a disorder of amino acid transport in the intestine and kidneys; otherwise, the intestine and kidneys function normally, and the effects of the disease occur mainly in the brain and skin. Symptoms may begin in infancy or early childhood, but sometimes they begin as late as early adulthood. Symptoms may be triggered by sunlight, fever, drugs, or emotional or physical stress. A period of poor nutrition nearly always precedes an attack. The attacks usually become progressively less frequent with age. Most symptoms occur sporadically and are caused by a deficiency of niacinamide. A rash develops on parts of the body exposed to the sun. Mental retardation, short stature, headaches, unsteady gait, and collapsing or fainting are common. Psychiatric problems (such as anxiety, rapid mood changes, delusions, and hallucinations) may also result.^[7]

Diagnosis[edit source | edit]

The defective gene controls the absorption of certain amino acids from the intestine and the reabsorption of those amino acids in the kidneys. Consequently, a person with Hartnup disease cannot absorb amino acids properly from the intestine and cannot reabsorb them properly from tubules in the kidneys. Excessive amounts of amino acids, such as tryptophan, are excreted in the urine. The body is thus left with inadequate amounts of amino acids, which are the building blocks of proteins. With too little tryptophan in the blood, the body is unable to make a sufficient amount of the B-complex vitamin niacinamide, particularly under stress when more vitamins are needed.^[7]

In Hartnup disease, urinary excretion of proline, hydroxyproline, and arginine remains unchanged, differentiating it from other causes of generalized aminoaciduria, such as Fanconi syndrome.

Treatment[edit source | edit]

A high-protein diet can overcome the deficient transport of neutral amino acids in most patients. Poor nutrition leads to more frequent and more severe attacks of the disease, which is otherwise asymptomatic. All patients who are symptomatic are advised to use physical and chemical protection from sunlight: avoid excessive exposure to sunlight, wear protective clothing, and use chemical sunscreens with a skin protection factor of 15 or greater. Patients also should avoid other aggravating factors, such as photosensitizing drugs, as much as possible. In patients with niacin deficiency and symptomatic disease, daily supplementation with nicotinic acid or nicotinamide reduces both the number and severity of attacks. Neurologic and psychiatric treatment is needed in patients with severe central nervous system involvement.^[6]

References[edit source | edit]

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ Online 'Mendelian Inheritance in Man' (OMIM) 234500
^ Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nature Genetics 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787.
^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Seow HF, Brer S, Brer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics 36 (9): 1003–7. doi:10.1038/ng1406. PMID 15286788.
^ ^a ^b Lidija Kandolf Sekulovic. "Hartnup Disease". Retrieved 2008-11-23.
^ ^a ^b "Hartnup Disease". Retrieved 2008-11-23.

External links[edit source | edit]

University of Maryland

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. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
2. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment
3. 遺伝性運動失調の概要 overview of the hereditary ataxias
4. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults

English Journal

ACE2 - from the renin-angiotensin system to gut microbiota and malnutrition.

Perlot T1, Penninger JM.
Microbes and infection / Institut Pasteur.Microbes Infect.2013 Nov;15(13):866-73. doi: 10.1016/j.micinf.2013.08.003. Epub 2013 Aug 17.
The renin-angiotensin system (RAS) is a complex network that regulates blood pressure, electrolyte and fluid homeostasis, as well as the function of several organs. Angiotensin-converting enzyme 2 (ACE2) was identified as an enzyme that negatively regulates the RAS by converting Ang II, the main bio
PMID 23962453

Ataxia.

Winchester S1, Singh PK, Mikati MA.
Handbook of clinical neurology.Handb Clin Neurol.2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X.
The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation. The differen
PMID 23622331

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases].

Jimenez E1, Ormazabal A, Serrano M, Ortez-Gonzalez CI, Artuch R, Garcia-Cazorla A, Campistol J.
Revista de neurologia.Rev Neurol.2012 Apr 1;54(7):394-8.
INTRODUCTION: Studying the amino acids in cerebrospinal fluid (CSF) is essential in the diagnosis of some neurological diseases and is an important aid in the diagnosis of others. No research has been published in the literature to prove the physiological relationship between the values of amino aci
PMID 22451125

Japanese Journal

Angiotensin-Converting Enzyme 2 (ACE2) in Disease Pathogenesis

IMAI Yumiko,KUBA Keiji,OHTO NAKANISHI Takayo,PENNINGER Josef M.
Circulation journal : official journal of the Japanese Circulation Society 74(3), 405-410, 2010-02-25
… For instance, in the acute respiratory distress syndrome (ARDS), ACE, AngII, and AT1R promote the disease pathogenesis, whereas ACE2 and the AT2R protect from ARDS. … Furthermore, the recent explosion of research into the ACE2 homolog, collectrin, has revealed a new physiological function of ACE2 as an amino acid transporter, which explains the pathogenic role of gene mutations in Hartnup disorder. … This review summarizes and discusses the recently unveiled roles for ACE2 in disease pathogenesis. …
NAID 10025942941

Related Pictures

★リンクテーブル★

リンク元	「ペラグラ」「ハートナップ病」
関連記事	「disease」

「ペラグラ」

Hartnup disease
	Classification and external resources
	; Tryptophan
ICD-10	E72.0
ICD-9	270.0
OMIM	234500
DiseasesDB	5638
MedlinePlus	001201
eMedicine	derm/713
MeSH	D006250

　　[★]

英: pellagra
関: ニコチンアミドアデニンジヌクレオチド NAD; ニコチン酸、ナイアシン、ビタミンB3、ナイアシン欠乏症、ニコチン酸欠乏症

疫学

男女比=2:1。これはエストロゲンの代謝産物によってトリプトファンの代謝(つまりナイアシンの生合成？)が阻害される事による。 (HBC.498)

病因

ニコチン酸(ニコチン酸からできるニコチンアミドアデニンジヌクレオチド(NAD))の欠乏による

1. 食事中のナイアシン不足。

飢餓状態にあっては、ナイアシン欠乏のみならず、トリプトファンからナイアシンを合成するための補酵素(鉄、リボフラビン、ビリドキシン)の欠乏によっても生ずる

2. トリプトファン吸収障害

Hartnup diseaseでは細胞膜上のトリプトファン輸送機構が障害されており、小腸からの吸収、腎尿細管での再吸収が障害されるるため(HBC.498)

3. 体内での大量消費

カルチノイド症候群：トリプトファンを原料に大量の5-hydroxytryptamine 5-HT セロトニンを産生(体内のトリプトファン代謝の60%を占めてしまうほど)するためトリプトファンが欠乏し、ナイアシン欠乏を来す(HBC.498)

pellagra 3D

皮膚炎 dermatitis
下痢 diarrhea
痴呆 dementia
(死 death)

症状

皮膚・粘膜症状：皮膚炎(色素沈着/脱出を残す)、舌炎、口角炎、口内炎
神経症状：知覚障害、運動失調
消化器症状：
精神症状：健忘症、認知症

HIM.443

初期症状：食欲減退、全身倦怠感、易刺激性(irritability)、腹痛、嘔吐
日光照射部位の皮疹(pigmented and scaling)(Casal's necklace, 進行例で見られる)　→　bright red glossitis
食道炎、腟炎
下痢(直腸炎 proctitisや消化不良に起因する)、うつ、てんかん発作、認知症

疫学

HIM.443

トウモロコシを主食とした人々に多い：中国、アフリカ、インド。
北米では、アルコール中毒、先天的に小腸と腎臓でニコチン酸の吸収が低下しているヒト(Hartnup disease)、カルチノイド症候群(トリプトファンがセロトニンに変換されて消費される)

「ハートナップ病」

　　[★]

英: Hartnup disease
同: ハルトナップ病、Hartnup病

[show details]

ハートナップ病 : 約 16,600 件
ハルトナップ病 : 約 61 件

「disease」

　　[★]

n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

something that is very wrong with people's attitudes, way of life or with society.

関: ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

注意

disease ≠ illness ≠ disorder

[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[2] Online 'Mendelian Inheritance in Man' (OMIM) 234500

[pmid15286787-3] Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nature Genetics 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787.

[Andrews-4] James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

[pmid15286788-5] Seow HF, Brer S, Brer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics 36 (9): 1003–7. doi:10.1038/ng1406. PMID 15286788.

[eMedicine-6] Lidija Kandolf Sekulovic. "Hartnup Disease". Retrieved 2008-11-23.

[Merck-7] "Hartnup Disease". Retrieved 2008-11-23.

匿名

検索

案内

案内

Hartnup disease

WordNet

PrepTutorEJDIC

Wikipedia preview

wiki en

Contents

Causes[edit source | edit]

Symptoms[edit source | edit]

Diagnosis[edit source | edit]

Treatment[edit source | edit]

See also[edit source | edit]

References[edit source | edit]

External links[edit source | edit]

UpToDate Contents

English Journal

Japanese Journal

Related Links

Related Pictures

★リンクテーブル★

「ペラグラ」

疫学

病因

pellagra 3D

症状

HIM.443

疫学

「ハートナップ病」

「disease」

Hartnup disease
Classification and external resources
Tryptophan
ICD-10	E72.0
ICD-9	270.0
OMIM	234500
DiseasesDB	5638
MedlinePlus	001201
eMedicine	derm/713
MeSH	D006250