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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/12/13 20:15:31」(JST)

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Abetalipoproteinemia, or Bassen-Kornzweig syndrome,^[1] is a rare autosomal recessive^[2] disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

Features

Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular.

Acanthocytosis in a patient with abetalipoproteinemia.

The signs and symptoms of abetalipoproteinemia appear in the first few months of life(because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). The stool may contain large chunks of fat and/or blood. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement (ataxia), and progressive degeneration of the light-sensitive layer (retina) at the back of the eye that can progress to near-blindness(due to deficiency of Vitamin A,retinol). Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal columns tracts.

Symptoms

Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse, meaning that they happen all together, all the time. These symptoms come as follows:

Failure to grow in infancy
Fatty, pale stools
Frothy stools
Foul smelling stools
Protruding abdomen
Mental retardation/developmental delay
Dyspraxia, evident by age ten
Muscle weakness
Slurred speech
Scoliosis (curvature of the spine)
Progressive decreased vision
Balance and coordination problems
Retinitis Pigmentosa

Diagnosis

The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma chylomicron are also characteristic. Acanthocytes are seen on blood smear.

There is an absence of apolipoprotein B. On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. Since there is no or little assimilation of chylomicrons, their levels in plasma remains low. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption.

Genetics

Abetalipoproteinemia has an autosomal recessive pattern of inheritance.

Mutations in the microsomal triglyceride transfer protein (MTTP) gene has been associated with this condition.^[3] (Apolipoprotein B deficiency, a related condition, is associated with deficiencies of apolipoprotein B.)

The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient transport of these substances in the bloodstream. Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. MTTP-associated mutations are inherited in an autosomal recessive pattern, which means both copies of the gene must be faulty to produce the disease.

Treatment

Treatment normally consists of rigorous dieting, involving mass amounts of vitamin E. Vitamin E helps the body restore and produce lipoproteins, which people with abetalipoprotenimia usually lack. Vitamin E also helps keep skin and eyes healthy; studies show that many affected males will have vision problems later on in life. Dyspraxia and muscle weakness are usually treated with physiotherapy or occupational therapy. Dietary restriction of triglycerides has also been useful.

References

^ Bassen FA, Kornzweig AL (1950). "Malformation of the erythrocytes in a case of atypical retinitis pigmentosa". Blood 5 (4): 381–87. PMID 15411425. http://bloodjournal.hematologylibrary.org/cgi/reprint/5/4/381.
^ Benayoun, L; Granot, E; Rizel, L; Allon-Shalev, S; Behar, Dm; Ben-Yosef, T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient". Molecular genetics and metabolism 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380.
^ "Abetalipoproteinemia - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Retrieved 2008-02-24.

External links

Abetalipoproteinemia at NLM Genetics Home Reference
AllRefer.com Bassen-Kornzweig syndrome

UpToDate Contents

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1. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
2. 神経有棘赤血球症 neuroacanthocytosis
3. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
4. 慢性骨髄性白血病に対するチロシンキナーゼ阻害剤の臨床使用 clinical use of tyrosine kinase inhibitors for chronic myeloid leukemia
5. 心血管疾患の二次予防における脂質低下療法の強度 intensity of lipid lowering therapy in secondary prevention of cardiovascular disease

English Journal

Insights from human congenital disorders of intestinal lipid metabolism.

Levy E.
Journal of lipid research.J Lipid Res.2014 Nov 11. pii: jlr.R052415. [Epub ahead of print]
The intestine must challenge the profuse daily flux of dietary fat that serves as a vital source of energy and as an essential component of cell membranes. The fat absorption process takes place in a series of orderly and interrelated steps, including the uptake and translocation of lipolytic produc
PMID 25387865

Intractable diarrhea of infancy: 10 years of experience.

Hizarcioglu-Gulsen H1, Saltik-Temizel IN, Demir H, Gurakan F, Ozen H, Yuce A.
Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2014 Nov;59(5):571-6. doi: 10.1097/MPG.0000000000000485.
OBJECTIVES: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI.METHODS: The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months d
PMID 25000351

Novel missense MTTP gene mutations causing abetalipoproteinemia.

Miller SA1, Burnett JR2, Leonis MA3, McKnight CJ4, van Bockxmeer FM5, Hooper AJ6.
Biochimica et biophysica acta.Biochim Biophys Acta.2014 Oct;1842(10):1548-54. doi: 10.1016/j.bbalip.2014.08.001. Epub 2014 Aug 6.
OBJECTIVE: The microsomal triglyceride transfer protein (MTTP) plays a critical role in the formation of hepatic very low density lipoprotein. Abetalipoproteinemia (ABL) is a rare, naturally occurring extreme form of MTTP inhibition, which is characterized by the virtual absence of apolipoprotein (a
PMID 25108285

Japanese Journal

静止時振戦を呈した Bassen-Kornzweig 症候群成人うたがい例

副島直子,大八木保政,菊池仁志,村井弘之,重藤寛史,吉良潤一
臨床神経学 : CLINICAL NEUROLOGY 46(10), 702-706, 2006-10-01
NAID 10018542584

A Case Report of Abetalipoproteinemia (Bassen-Kornzweig syndrome)--The First Case in Japan

Akamatsu Koichi [他]
Japanese Journal of Medicine 22(3), p231-236, 1983-08
NAID 40005320595

Related Pictures

★リンクテーブル★

リンク元	「網膜色素変性症」「無βリポ蛋白血症」「無βリポタンパク血症」「バッセン・コルンツヴァイク症候群」
関連記事	「syndrome」

「網膜色素変性症」

Abetalipoproteinemia
	Classification and external resources
	; Micrograph showing enterocytes with a clear cytoplasm (due to lipid accumulation) characteristic of abetalipoproteinemia. Duodenal biopsy. H&E stain.
ICD-10	E78.6
ICD-9	272.5
OMIM	200100
DiseasesDB	17
MedlinePlus	001666
eMedicine	med/1117
MeSH	D000012

　　[★]

英: pigmentary degeneration of the retina
ラ: degeneratio pigmentosa retinae, retinitis pigmentosa
関: 網膜色素変性、色素性網膜症、色素性網膜炎、桿体錐体ジストロフィー、色素上皮網膜変性、夜盲症、難病

[show details]

網膜色素変性症 : 約 222,000 件
網膜色素変性 : 約 235,000 件

概念

特定疾患治療研究事業の対象疾患である難病である。

遺伝形式

常染色体劣性遺伝　＞　常染色体優性遺伝　＞　X連鎖劣性遺伝

症状

症状は通常両眼性である。進行は緩徐に進行する。

夜盲
視野狭窄：輪状暗点(初期)、求心性視野狭窄(末期)
視力低下：周辺視力低下、最終的には失明、。

検査

眼底検査：網膜動脈狭細化、蝋状の視神経乳頭萎縮、骨小体様色素沈着(必ずしも見られない)
傾向眼底検査
暗順応検査
網膜電図：(初期から見られる)振幅低下・消失
視野検査：(初期)輪状暗点、求心性視野狭窄

認定基準

参考1

1 自覚症状

1) 夜盲
2) 視野狭窄
3) 視力低下

2 臨床検査所見

1) 眼底所見

網膜血管狭小
粗糙胡麻塩状網膜(ごま塩眼底？？)
骨小体様色素沈着
白点状

2) 網膜電図の振幅低下又は消失
3) 蛍光眼底造影所見で網膜色素上皮萎縮による過蛍光

合併症

嚢胞様黄斑浮腫、白内障、緑内障
難聴を伴う物が少なからずある。(参考2)

網膜色素変性を伴う疾患

網膜色素変性の類変疾患(網脈絡膜変性疾患)

→網脈絡膜ジストロフィー

参考

1. 網膜色素変性症 - 難病情報センター

http://www.nanbyou.or.jp/entry/337

2. 難聴＋網膜色素変性

http://homepage1.nifty.com/jibiaka50/nantyoumoumaku.htm

3. [charged] Retinitis pigmentosa: Clinical presentation and diagnosis - uptodate [1]

国試

101H039

「無βリポ蛋白血症」

　　[★]

英: abetalipoproteinemia
同: 家族性低密度リポ蛋白質欠損症 familial low-density lipoprotein deficiency、バッセン・コーンツヴァイク症候群 Bassen-Kornzweig syndrome、バッセン・コーンツヴァイク病, Bassen-Kornzweig disease, Bassen-Kornzweig病、Bassen-Kornzweig症候群、無βリポタンパク質血症