関: osteopetrosis

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
an impairment of health or a condition of abnormal functioning
remove the bones from; "bone the turkey before roasting it" (同)debone
the porous calcified substance from which bones are made (同)osseous_tissue
consisting of or made up of bone; "a bony substance"; "the bony framework of the body"
a shade of white the color of bleached bones (同)ivory, pearl, off-white
rigid connective tissue that makes up the skeleton of vertebrates (同)os
paint or stain like marble; "marble paper"
a hard crystalline metamorphic rock that takes a high polish; used for sculpture and as building material
a sculpture carved from marble
a small ball of glass that is used in various games
having bones as specified; "his lanky long-boned body"
having had the bones removed; "a boneless rib roast"; "a boned (or deboned) fish" (同)deboned
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
〈C〉骨 / 〈U〉骨を作っている物質,骨質 / 《複数形で》骨格;死骸(がい) / 〈魚など〉‘の'骨を取る
〈U〉『大理石』 / 《複数形で;単数扱い》おはじき遊戯 / 〈C〉おはじきの石 / 大理石[製]の;大理石模様の / (大理石のように)硬い,冷たい;滑らかな;白い
(魚など)骨を取り除いた / (衣服が)(コルセットなどで)骨で張りをつけた[ような]
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）』「2015/08/24 03:05:10」(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]

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.^[4]

Comparison of bone pathology
view talk edit Condition	Calcium	Phosphate	Alkaline phosphatase	Parathyroid hormone	Comments
Osteopenia	unaffected	unaffected	normal	unaffected	decreased bone mass
Osteopetrosis	unaffected	unaffected	elevated	unaffected^{[citation needed]}	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

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.

Osteopetrosis is caused by underlying mutations that interfere with the acidification of the osteoclast resorption pit, for example due to a deficiency of the carbonic anhydrase enzyme encoded by the CA2 gene.^[5] Carbonic anhydrase is required by osteoclasts for proton production. Without this enzyme hydrogen ion pumping is inhibited and bone resorption by osteoclasts is defective, as an acidic environment is needed to dissociate calcium hydroxyapatite from the bone matrix. As bone resorption fails while bone formation continues, excessive bone is formed.^[6]

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.^[7]

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.

Prevalence

There is 1 diseased for 100—200 thousands of newborns, but the chance to be diseased is greater in russian regions Chuvashia (1 diseased for 3500—4000 newborns) and Mari El (1 diseased for 14000 newborns) due to ethnogeny features of chuvash people и mari people.^[8]^[9]

Notable cases

Laurel Burch^[10]
Lil Bub^[11]

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. Elsevier Health Sciences. p. 17. ISBN 9781437725209. Retrieved 31 August 2014.
^ Robins basic pathology
^ Askmyr MK et al.: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol 140:597, 208
^ Robbins Basic Pathology by Kumar, Abbas, Fausto, and Mitchell, 8th edition
^ Tolar J, Teitelbaum S, Orchard PJ (2004). "Osteopetrosis". New England Journal of Medicine 351 (27): 2839–49. doi:10.1056/NEJMra040952. PMID 15625335.
^ Центр Молекулярной Генетики
^ Медицинская генетика Чувашии
^ 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

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1. 小児における、慢性腎臓病に伴う骨ミネラル代謝異常（CKD-MBD） pediatric chronic kidney disease mineral and bone disorder ckd mbd
2. 慢性腎臓病に伴う骨・ミネラル代謝異常（CKD-MBD）の概要 overview of chronic kidney disease mineral bone disease ckd mbd
3. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
4. Bone disease after renal transplantation
5. 慢性腎臓疾患に関連する無形成骨症 adynamic bone disease associated with chronic kidney disease

English Journal

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

Zeng B1, Li R2, Hu Y2, Hu B1, Zhao Q1, Liu H3, Yuan P4, Wang Y5.
Gene.Gene.2016 Jan 15;576(1 Pt 1):176-81. doi: 10.1016/j.gene.2015.10.021. Epub 2015 Oct 22.
Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a
PMID 26477479

Paradoxical Effects of Partial Leptin Deficiency on Bone in Growing Female Mice.

Philbrick KA1, Turner RT1,2, Branscum AJ3, Wong CP1, Iwaniec UT1,2.
Anatomical record (Hoboken, N.J. : 2007).Anat Rec (Hoboken).2015 Dec;298(12):2018-29. doi: 10.1002/ar.23267. Epub 2015 Oct 7.
Morbidly obese, leptin-deficient ob/ob mice display low bone mass, mild osteoclast-rich osteopetrosis, and increased bone marrow adiposity. While partial leptin deficiency results in increased weight, the skeletal manifestations of partial leptin deficiency are less well defined. We therefore analyz
PMID 26370912

Partial depletion of TCR alpha/beta(+)/ CD19(+) cells in matched unrelated transplantation of three patients with osteopetrosis.

Porta F1, Cavagnini S1, Imberti L2, Sottini A2, Bolda F3, Beghin A3, Caruso A3,4, Lanfranchi A3.
Bone marrow transplantation.Bone Marrow Transplant.2015 Dec;50(12):1583-5. doi: 10.1038/bmt.2015.201. Epub 2015 Sep 14.
PMID 26367231

Japanese Journal

Intrathoracic Extramedullary Hematopoiesis Arising in Marble Bone Disease : Clarifying the Genetic Disease Mechanism

SHIGEMURA Norihisa,AKASHI Akinori,NAKAGIRI Tomoyuki
日本胸部外科学会雑誌 = The Japanese journal of thoracic and cardiovascular surgery 50(7), 311-314, 2002-07-10
NAID 50000580414

Free Fibular Flap Reconstruction in Mandibular Osteopetrosis

EPPLEY Barry L.,COLEMAN John J. III
The Journal of craniofacial surgery 12(4), 369-372, 2001-07-01
NAID 10016383331

大理石病を有する患者の歯内療法の1例

永松敬
日本臨床歯内療法学会雑誌 = The journal of Japan Endodontic Association 19(2), 183-186, 1998-12-25
NAID 10020401436

Related Pictures

★リンクテーブル★

リンク元	「大理石骨病」「osteopetrotic」
関連記事	「disease」「marble」「bone」

「大理石骨病」

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

「osteopetrotic」

　　[★]

大理石骨病の

関: marble bone disease、osteopetrosis

「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

「marble」

　　[★]

大理石

関: aragonite、calcite、calcium carbonate、limestone、vaterite

「bone」

　　[★] 骨　　　　　　

[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. Elsevier Health Sciences. p. 17. ISBN 9781437725209. Retrieved 31 August 2014.

[4] Robins basic pathology

[5] Askmyr MK et al.: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol 140:597, 208

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

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

[8] Центр Молекулярной Генетики

[9] Медицинская генетика Чувашии

[titleMarin_County_artist_Laurel_Burch_dead_at_61_of_rare_bone_disease-10] 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.

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

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

匿名

検索

案内

marble bone disease

WordNet

PrepTutorEJDIC

Wikipedia preview

wiki en

Contents

Signs and symptoms

Pathogenesis

Variations

Differential diagnosis

Treatment

Prevalence

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

「osteopetrotic」

「disease」

「marble」

「bone」