WordNet

an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated (同)Albers-Schonberg_disease, marble bones disease
lacking warmth and generosity of spirit; "a brittle and calculating woman"
caramelized sugar cooled in thin sheets (同)toffee, toffy
having little elasticity; hence easily cracked or fractured or snapped; "brittle bones"; "glass is brittle"; "`brickle and `brickly are dialectal" (同)brickle, brickly
(of metal or glass) not annealed and consequently easily cracked or fractured (同)unannealed
cause physical pain or suffering in; "afflict with the plague" (同)smite
cause great unhappiness for; distress; "she was afflicted by the death of her parents"

PrepTutorEJDIC

(堅くて弾力がないために)壊れやすい,もろい
(肉体的に,精神的に)(…で)…'を'『苦しめる』,悩ます(distress)《+『名』+『with』+『名』 (a person's do『ing』)》

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/11 18:17:24」(JST)

wiki en

Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.^[1]

It can cause osteosclerosis.^[2] The cause of the disease is understood to be malfunctioning osteoclasts. Radiological findings will show a bone-in-bone appearance.^[3]

Pathogenesis

Normal bone growth is achieved by a balance between bone formation by osteoblasts and bone resorption (breakdown of bone matrix) by osteoclasts. In osteopetrosis, the number of osteoclasts may be reduced, normal, or increased. Most importantly, osteoclast dysfunction mediates the pathogenesis of this disease.

The exact mechanism is unknown. However, deficiency of carbonic anhydrase in osteoclasts is noted. The absence of this enzyme causes defective hydrogen ion pumping by osteoclasts, and this, in turn, causes defective bone resorption by osteoclasts, as an acidic environment is needed for dissociation of calcium hydroxyapatite from bone matrix. Hence, bone resorption fails while its formation persists. Excessive bone is formed.^[4]

Signs and symptoms

A 17-year-old male with osteopetrosis tarda: Typical cranial deformity and thoracic scoliosis

Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, and increased likelihood of fractures; also, patients suffer anemia, recurrent infections, and hepatosplenomegaly due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.^[5]

Comparison of bone pathology
view talk edit Condition	Calcium	Phosphate	Alkaline phosphatase	Parathyroid hormone	Comments
Osteoporosis	unaffected	unaffected	normal	unaffected	decreased bone mass
Osteopetrosis	unaffected	unaffected	elevated	unaffected	thick dense bones also known as marble bone
Osteomalacia and rickets	decreased	decreased	elevated	elevated	soft bones
Osteitis fibrosa cystica	elevated	decreased	elevated	elevated	brown tumors
Paget's disease of bone	unaffected	unaffected	variable (depending on stage of disease)	unaffected	abnormal bone architecture

Variations

The several forms are:

Name	OMIM	Gene
OPTA1	607634	LRP5
OPTA2	166600	CLCN7
OPTB1	259700	TCIRG1
OPTB2	259710	TNFSF11
OPTB3	259730	CA2 (renal tubular acidosis)
OPTB4	611490	CLCN7
OPTB5	259720	OSTM1
OPTB6	611497	PLEKHM1
OPTB7	612301	TNFRSF11A

Differential diagnosis

The differential diagnoses include other disorders which can cause diffuse osteosclerosis, such as hypervitaminosis D and hypoparathyroidism, Paget's disease, diffuse bone metastasis of breast or prostate cancer (which tend to be osteoblastic, while most metastases are osteolytic), intoxication with fluoride, lead or beryllium, and hematological disorders such as myelofibrosis, sickle cell disease, and leukemia.

Treatment

The only durable cure for osteopetrosis types affecting the osteoclasts (most types) is bone marrow transplant.^[6]

If complications occur in children, patients can be treated with vitamin D. Gamma interferon has also been shown to be effective, and it can be associated to vitamin D. Erythropoetin has been used to treat any associated anemia. Corticosteroids may alleviate both the anemia and stimulate bone resorption. Fractures and osteomyelitis can be treated as usual.

Notable cases

Laurel Burch^[7]
Lil Bub^[8]

References

^ "Marble Bone Disease: A Review of Osteopetrosis and Its Oral Health Implications for Dentists". Cda-adc.ca. Retrieved 2013-10-17.
^ Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM (2007). "Marble bone disease: a review of osteopetrosis and its oral health implications for dentists". J Can Dent Assoc 73 (9): 839–43. PMID 18028760.
^ Horvai, Andrew (2012). Bone and Soft Tissue Pathology (in English). Elsevier Health Sciences. p. 17. ISBN 9781437725209. Retrieved 31 August 2014.
^ Robbins Basic Pathology by Kumar, Abbas, Fausto, and Mitchell, 8th edition
^ Robins basic pathology
^ Tolar J, Teitelbaum S, Orchard PJ (2004). "Osteopetrosis". New England Journal of Medicine 351 (27): 2839–49. doi:10.1056/NEJMra040952. PMID 15625335.
^ Maddan, Heather (2007-09-23). "Marin County artist Laurel Burch dead at 61 of rare bone disease". The San Francisco Chronicle. Retrieved 2007-12-23.
^ "The Story of Lil BUB". YouTube. Retrieved 2013-10-17.

External links

Osteopetrosis - Pediatric Blood and Marrow Transplantation Center at University of Minnesota Masonic Children's Hospital^[1]
GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
Rarediseases.org

^ "About University of Minnesota Masonic". www.uofmchildrenshospital.org. Retrieved 5 November 2014.

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. 骨格の正常な発達および骨形成ならびに骨吸収の調節 normal skeletal development and regulation of bone formation and resorption
2. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
3. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children
4. サルコイド：筋肉、骨、血管の疾患の徴候 sarcoid muscle bone and vascular disease manifestations
5. 複合免疫不全 combined immunodeficiencies

English Journal

Successful staged hip replacement in septic hip osteoarthritis in osteopetrosis: a case report.

Manzi G, Romano D, Moneghini L, Romano CL.AbstractABSTRACT:
BMC musculoskeletal disorders.BMC Musculoskelet Disord.2012 Apr 2;13(1):50. [Epub ahead of print]
ABSTRACT:BACKGROUND: Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pa
PMID 22472060

Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.

Kantaputra PN, Thawanaphong S, Issarangporn W, Klangsinsirikul P, Ohazama A, Sharpe P, Supanchart C.SourceFaculty of Dentistry, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Chiang Mai University, DENTALAND CLINIC, Chiang Mai, Thailand. dentaland17@gmail.com.
American journal of medical genetics. Part A.Am J Med Genet A.2012 Apr;158A(4):909-16. doi: 10.1002/ajmg.a.35264. Epub 2012 Mar 14.
Infantile malignant autosomal recessive osteopetrosis (ARO; OMIM 259700) has been reported to be associated with mutations in TCIRG1, CLCN7, or OSTM1. ARO caused by homozygous (or compound heterozygous) mutations in CLCN7, as described here, is usually diagnosed at birth or early in infancy due to g
PMID 22419446

Japanese Journal

骨髄外におけるB細胞の分化

奥山一生,村田暁彦,吉野三也 [他]
臨床免疫・アレルギー科 56(3), 346-350, 2011-09
NAID 40019017872

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

YUAN Ping,YUE Zhihui,SUN Liangzhong,HUANG Weijun,HU Bin,YANG Zhiyun,HU Yuelin,XIAO Hua,SHI Hui,ZHOU Qing,WANG Yiming
Journal of bone and mineral metabolism 29(2), 251-256, 2011-03-30
NAID 10029024453

Related Pictures

★リンクテーブル★

リンク元	「大理石骨病」「brittle」「afflict」「survive into」「osteopetrotic」

「大理石骨病」

Osteopetrosis (malignant)
	Classification and external resources
	X-ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers-Schönberg disease). Note the dense bones.
ICD-10	Q78.2
ICD-9	756.52
OMIM	166600 259700
DiseasesDB	9377
eMedicine	med/1692
Patient UK	Osteopetrosis
MeSH	D010022

　　[★]

oste petr
英: osteopetrosis
ラ: osteosclerosis flagilis generalisata
同: marble bone disease、大理石病、アルバース・シェーンベルグ病 Albers-Schonberg disease、岩様骨症 petrous osteosclerosis
関: Erlenmeyer flask変形

first aid step1 2006 p.319

概念

全身性骨硬化疾患であり、破骨細胞機能低下による全身性の骨硬化

病因

疫学

病型

早発型(乳児型)：重症：予後不良
中間型：比較的軽症で致死的ではない
遅発型(成人型)：軽症
乳管アシドーシスと脳内石灰化を伴い炭酸脱水素酵素欠損症による病型

遺伝形式

早発型：常染色体劣性遺伝
中間型：常染色体劣性遺伝
遅発型：常染色体優性遺伝
乳管アシドーシスと脳内石灰化を伴い炭酸脱水素酵素欠損症による病型：劣性遺伝

病態生理

破骨細胞の機能低下により未熟骨から成熟骨へのリモデリングが損なわれ、一次海綿骨の吸収が阻害される(PED.1602)。

内軟骨性骨形成において、破骨細胞機能の低下により、石灰化軟骨が吸収されず残存し、骨芽細胞による骨が添加される。その結果として、海綿骨が形成されず、石灰化軟骨基質と網状骨基質が密に混在し、紋様、大理石様を呈する。

病理

骨髄腔には石灰化像が広がり、びまん性の骨硬化像を示す(PED.1602)。
骨は石灰化軟骨基質と網状骨基質とが密に混在し紋様をなし、大理石状を呈する(PED.1602)

症状

高度の貧血や肝脾腫、脳神経麻痺など重篤な合併症を呈することがある。
全身性の骨硬化像、易骨折性、造血機能障害

造血機能障害→貧血、出血傾向、感染、髄外造血
病的な骨折として横骨折を示す

中枢神経症状、発達障害

早発型(乳児型)

出生食後より貧血、成長障害、易感染性、肝脾腫、易骨折性

遅発型(成人型)

易骨折性

診断

単純X線写真

長管骨：全身性の骨硬化(皮質と髄腔の境界が不明瞭で、骨梁構造が認めがたいびまん性の骨硬化像)、エルレンマイヤーフラスコ変形・棍棒状。骨幹端を横走する透明体や縞模様
椎体：骨性終板が幅広い硬化像を呈し、サンドイッチ脊椎となる(サンドイッチ様 sandwich spine、ラガージャージ様 ruggerjersey appearance)

検査

治療

骨髄移植

早発型や中間型で有効例が報告されている

予後

早発型(乳児型)

乳幼児期に肺炎などの感染症で死亡

予防

USMLE

Q book p.291 21

参考

1. 病理

http://www.thepoultrysite.com/publications/5//157/osteopetrosis

2. 病理

http://www.nankodo.co.jp/yosyo/xforeign/image/tw/35127btw.gif

「brittle」

　　[★]

adj

固いがもろい、砕けやすい、割れやすい。壊れやすい

the patient described is exhibiting signs of osteopetrosis, characterized by abnormally brittle bones with increased density throughout the body.

傷つきやすい。安定性を欠く、もろい(友情、平和、性格など)。はかない、移ろいやすい
暖かみを欠く、ドライな
(音が)鋭い
(医)不安定型の(糖尿病)

関: brittleness、embrittle、embrittlement、fragile

「afflict」

　　[★]

flict- fligo to strike down

vt.

悩ます、苦しめる(with)

afflicted children typically present with failure to thrive and visual problems due to lens displacement.

the autosomal recessive form is much more severe, with only a few afflicted children surviving in to infancy. (osteopetrosis)

severely afflicted patients are unable to leave the supine position without experiencing presyncope or syncope.(uptodate)

関: burden, distress

「survive into」

　　[★]

～まで生き延びる

the autosomal recessive form is much more severe, with only a few afflicted children surviving in to infancy. (osteopetrosis)

「osteopetrotic」

　　[★]

大理石骨病の

関: marble bone disease、osteopetrosis

[1] "Marble Bone Disease: A Review of Osteopetrosis and Its Oral Health Implications for Dentists". Cda-adc.ca. Retrieved 2013-10-17.

[pmid18028760-2] Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM (2007). "Marble bone disease: a review of osteopetrosis and its oral health implications for dentists". J Can Dent Assoc 73 (9): 839–43. PMID 18028760.

[Horvai2012-3] Horvai, Andrew (2012). Bone and Soft Tissue Pathology (in English). Elsevier Health Sciences. p. 17. ISBN 9781437725209. Retrieved 31 August 2014.

[4] Robbins Basic Pathology by Kumar, Abbas, Fausto, and Mitchell, 8th edition

[5] Robins basic pathology

[6] Tolar J, Teitelbaum S, Orchard PJ (2004). "Osteopetrosis". New England Journal of Medicine 351 (27): 2839–49. doi:10.1056/NEJMra040952. PMID 15625335.

[titleMarin_County_artist_Laurel_Burch_dead_at_61_of_rare_bone_disease-7] Maddan, Heather (2007-09-23). "Marin County artist Laurel Burch dead at 61 of rare bone disease". The San Francisco Chronicle. Retrieved 2007-12-23.

[8] "The Story of Lil BUB". YouTube. Retrieved 2013-10-17.

[9] "About University of Minnesota Masonic". www.uofmchildrenshospital.org. Retrieved 5 November 2014.

Osteopetrosis (malignant)
Classification and external resources
X-ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers-Schönberg disease). Note the dense bones.
ICD-10	Q78.2
ICD-9	756.52
OMIM	166600 259700
DiseasesDB	9377
eMedicine	med/1692
Patient UK	Osteopetrosis
MeSH	D010022

匿名

検索

案内

osteopetrosis

WordNet

PrepTutorEJDIC

Wikipedia preview

wiki en

Contents

Pathogenesis

Signs and symptoms

Variations

Differential diagnosis

Treatment

Notable cases

See also

References

External links

UpToDate Contents

English Journal

Japanese Journal

Related Links

Related Pictures

★リンクテーブル★

「大理石骨病」

概念

病因

疫学

病型

遺伝形式

病態生理

病理

症状

早発型(乳児型)

遅発型(成人型)

診断

検査

治療

予後

早発型(乳児型)

予防

USMLE

参考

「brittle」

「afflict」

「survive into」

「osteopetrotic」