X-linked dominant hypophosphatemic rickets

X染色体優性低リン血症性くる病

関

hypophosphatemic rickets、vitamin D-resistant rickets、X-linked hypophosphatemia、X-linked hypophosphatemic rickets

WordNet

1. the means of connection between things linked in series (同)nexus
2. a unit of length equal to 1/100 of a chain
3. an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
4. a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
5. (computing) an instruction that connects one part of a program or an element on a list to another program or list
6. exercising influence or control; "television plays a dominant role in molding public opinion"; "the dominant partner in the marriage"
7. (music) the fifth note of the diatonic scale
8. (of genes) producing the same phenotype whether its allele is identical or dissimilar
9. childhood disease caused by deficiency of vitamin D and sunlight associated with impaired metabolism of calcium and phosphorus (同)rachitis
10. the 24th letter of the Roman alphabet (同)x, ex

PrepTutorEJDIC

1. (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
2. たいまつ
3. 『支配的な』,最も有力な / (位置が)群を抜いて高い,そびえ立つ / (手・目など左右のいずれかが)力のある / (遺伝で)優性の / (音階で)第5度音の,属音の / (遺伝の)優性形質 / 第5度音,属音
4. くる病
5. Christ / Christian

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/18 19:45:16」(JST)

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[Wiki en表示]

X-linked hypophosphatemia
Classification and external resources
ICD-10	E83.3
ICD-9	275.3
OMIM	307800
DiseasesDB	6513
eMedicine	ped/1128
MeSH	D053098

X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets or hypophosphatemic vitamin d-resistant rickets (HPDR), is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that ingestion of vitamin D is relatively ineffective. It can cause bone deformity including short stature and genu varum (bow leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein. The prevalence of the disease is 1:20000. The leg deformity can be treated with Ilizarov frames and CHAOS surgery.

Cause and Genetics

X-linked dominant inheritance works differently depending upon whether the mother (left image) or father (right image) is the carrier of a gene that causes a disease or disorder

XLH is associated with a mutation in the PHEX gene sequence, located on the human X chromosome at location Xp22.2-p22.1. The mutation results in altered (or missing) activity of the PHEX protein, which inactivates hormone-like substances (phosphatonins) that promote phosphate excretion. The resulting excess excretion of phosphate impairs bone mineralization. Biochemically, XLH is recognized by hypophosphatemia and inappropriately low level of calcitriol (1,25-(OH)₂ vitamin D₃). It also affects their equilibrium, only to the effect of their balance, which their knee/ankle joints are either farther outward or inward. A person unaffected by this disease usually cannot touch both knees and ankles together.

The disorder is inherited in an X-linked dominant manner. This means the defective gene responsible for the disorder (PHEX) is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder. Males are normally hemizygous for the X chromosome, having only one copy. As a result, X-linked dominant disorders usually show higher expressivity in males than females.

As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the gender of the parent carrying a specific gene and can often seem complex. This is because, typically, females have two copies of the X-chromosome and males have only one copy. The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage.

Difference in male to female

An affected male males legs bow outwards (ankles touch, but not the knees), causing the identification of the disease to be at an later age than a females. Females legs bow inwards (knees touch, but not the ankles).

Treatment

Oral phosphate, calcitriol, and surgery if necessary.^{[citation needed]}

See also

• hypophosphatemia

References

External links

• 00754 at CHORUS
• Hypophosphatemic rickets; XLH; Hypophosphatemia, vitamin D-resistant rickets at NIH's Office of Rare Diseases
• The PHEXdb - a database of nucleotide variation in the PHEX gene
• The XLH Network Inc. - a worldwide patient support organization

UpToDate Contents

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• 1. 遺伝性低リン血症性くる病と腫瘍誘発性骨軟化症 hereditary hypophosphatemic rickets and tumor induced osteomalacia
• 2. 骨軟化症の疫学および病因 epidemiology and etiology of osteomalacia
• 3. 高リン血症の原因および治療の概要 overview of the causes and treatment of hyperphosphatemia
• 4. 低リン血症の原因 causes of hypophosphatemia
• 5. 小児におけるくる病の概要 overview of rickets in children

English Journal

• Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.

• Feng JQ, Clinkenbeard EL, Yuan B, White KE, Drezner MK.SourceDepartment of Biomedical Sciences, Baylor College of Dentistry, Texas A&M Health Science Center, Dallas, TX 75246, USA.
• Bone.Bone.2013 Jun;54(2):213-21. doi: 10.1016/j.bone.2013.01.046. Epub 2013 Feb 9.
• Although recent studies have established that osteocytes function as secretory cells that regulate phosphate metabolism, the biomolecular mechanism(s) underlying these effects remain incompletely defined. However, investigations focusing on the pathogenesis of X-linked hypophosphatemia (XLH), autoso
• PMID 23403405

• The changing face of hypophosphatemic disorders in the FGF-23 era.

• Lee JY, Imel EA.SourceDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
• Pediatric endocrinology reviews : PER.Pediatr Endocrinol Rev.2013 Jun;10 Suppl 2:367-79.
• In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting. Recent understanding of the mechanisms of disease a
• PMID 23858620

• Cortical and trabecular bone density in X-linked hypophosphatemic rickets.

• Cheung M, Roschger P, Klaushofer K, Veilleux LN, Roughley P, Glorieux FH, Rauch F.SourceShriners Hospital for Children and Department of Pediatrics, McGill University, Montreal, Quebec, Canada H3G 1A6.
• The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2013 May;98(5):E954-61. doi: 10.1210/jc.2012-4133. Epub 2013 Mar 26.
• CONTEXT: X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking.OBJECTIVE: The aim of the study was to assess volumetric bone mineral density (vBMD) in X-linked
• PMID 23533226

Japanese Journal

• Molecular Bases of Diseases Characterized by Hypophosphatemia and Phosphaturia : New Understanding

• Ozono Keiichi,Michigami Toshimi,Namba Noriyuki,Nakajima Shigeo,Yamamoto Takehisa
• Clinical pediatric endocrinology 15(4), 129-135, 2006-10
• NAID 110006794331

• リン代謝異常症とFGF-23

• 福本 誠二
• 日本内科学会雑誌 93(6), 1211-1216, 2004-06-10
• … X染色低優性低リン血症性くる病/骨軟化症(X-linked hypophosphatemic rickets/osteomalacia: XLH),常染色低優性低リン血症性くる病/骨軟化症(autosomal dominant hypophosphatemic rickets/osteomalacia: ADHR),および腫瘍性くる病/骨軟化症(tumor-induced rickets/osteomalacia: TIO)は,いずれも尿細管リン再 …
• NAID 10013354713

Related Links

• X-linked hypophosphatemia - Wikipedia, the free encyclopedia

X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets or hypophosphatemic vitamin d-resistant rickets (HPDR), is an X-linked dominant form of rickets (or osteomalacia) ...

• Hereditary hypophosphatemic rickets - Genetics Home Reference

The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much ...

Related Pictures

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★リンクテーブル★

リンク元	「X染色体優性低リン血症性くる病」「vitamin D-resistant rickets」「X-linked hypophosphatemia」「X-linked hypophosphatemic rickets」
関連記事	「link」「dominant」「hypophosphatemic」「linked」「X」

「X染色体優性低リン血症性くる病」

　　[★]

英

X-linked dominant hypophosphatemic rickets

関

低リン血症性くる病、ビタミンD抵抗性くる病、X連鎖低リン血症性くる病、X連鎖性低リン酸血症

家族性低リン血症性ビタミンD抵抗性くる病

「vitamin D-resistant rickets」

　　[★]

ビタミンD抵抗性くる病

関

hypophosphatemic rickets、X-linked dominant hypophosphatemic rickets、X-linked hypophosphatemia、X-linked hypophosphatemic rickets

「X-linked hypophosphatemia」

　　[★] X連鎖性低リン酸血症

関

hypophosphatemic rickets、vitamin D-resistant rickets、X-linked dominant hypophosphatemic rickets、X-linked hypophosphatemic rickets

「X-linked hypophosphatemic rickets」

　　[★]

X連鎖低リン血症性くる病

関

hypophosphatemic rickets、vitamin D-resistant rickets、X-linked dominant hypophosphatemic rickets、X-linked hypophosphatemia

「link」

　　[★]

• n.

• 関連、連鎖、連結、リンク

• v.

• 関連づける、連結する、連接する

関

associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant

　 　 　 　 　 　 　

「dominant」

　　[★]

• adj.

• 優性の、優位な、顕性の、優占の、支配的な、ドミナントな

関

dominance、dominantly、manifest、overt、predominance、predominant、predominantly、predominately、prevailing、superior、superiorly

　 　 　 　

「hypophosphatemic」

　　[★]

• adj.

• 低リン血症の、低リン酸血症の、低リン血症性の

関

hypophosphataemia、hypophosphataemic、hypophosphatemia

「linked」

　　[★]

• adj.

• 連鎖の、連鎖的な、連鎖性の

関

catenation、link、linkage

「X」

　　[★] キサントシン, xanthosine