autosomal dominant hypophosphatemic rickets

同

ADHR

WordNet

1. exercising influence or control; "television plays a dominant role in molding public opinion"; "the dominant partner in the marriage"
2. (music) the fifth note of the diatonic scale
3. (of genes) producing the same phenotype whether its allele is identical or dissimilar
4. childhood disease caused by deficiency of vitamin D and sunlight associated with impaired metabolism of calcium and phosphorus (同)rachitis
5. of or relating to an autosome; "autosomal gene"

PrepTutorEJDIC

1. 『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
2. くる病

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/04/25 14:40:30」(JST)

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Autosomal dominant hypophosphatemic rickets
Classification and external resources
Specialty	endocrinology
ICD-10	E83.3,E83.31
ICD-9-CM	275.3, 268.0
OMIM	193100
DiseasesDB	33193
MedlinePlus	000344
eMedicine	article/922305

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.

ADHR may be lumped in with X-linked hypophosphatemia under general terms such as hypophosphatemic rickets. Hypophospatemic rickets are associated with at least nine other genetic mutations. Clinical management of hypophospatemic rickets may differ depending on the specific mutations associated with an individual case, but treatments are aimed at raising phosphate levels to promote normal bone formation.

References

External links

• "Hereditary hypophosphatemic rickets". Genetics Home Reference. September 2010. Archived from the original on 10 October 2012. Retrieved 10 October 2012. 
• "Hypophosphatemic Rickets". The Merck Manual Home Health Handbook. Merck Sharp & Dohme Corp. December 2006. Archived from the original on 10 October 2012. Retrieved 10 October 2012. 

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. 小児におけるくる病の概要 overview of rickets in children
• 4. 低リン血症の原因 causes of hypophosphatemia
• 5. 腎石灰沈着症 nephrocalcinosis

English Journal

• Autosomal dominant hypophosphatemic rickets in an 85year old woman: Characterization of her disease from infancy through adulthood.

• Seton M, Jüppner H.SourceMassachusetts General Hospital, Rheumatology, Allergy & Immunology, Bulfinch 165, 55 Fruit St, Boston, MA 02114, USA. Electronic address: mseton@partners.org.
• Bone.Bone.2013 Feb;52(2):640-3. doi: 10.1016/j.bone.2012.11.012. Epub 2012 Nov 19.
• BACKGROUND: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia, suppressed levels of calcitriol, and renal phosphate wasting due to elevated levels of fibroblast growth factor 23 (FGF23). The
• PMID 23174215

• Hypophosphatemic rickets.

• Baroncelli GI, Toschi B, Bertelloni S.SourcePediatric Unit I, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Pisa, Italy. g.baroncelli@med.unipi.it
• Current opinion in endocrinology, diabetes, and obesity.Curr Opin Endocrinol Diabetes Obes.2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97.
• PURPOSE OF REVIEW: Description of the recent advances on the regulation of phosphate metabolism, gene mutations, and new approaches to treatment in patients with hypophosphatemic rickets.RECENT FINDINGS: Fibroblast growth factor 23 (FGF23) overproduction may be a primary cause of hypophosphatemic ri
• PMID 23108197

• [Phosphate sensing and parathyroid gland].

• Mizobuchi M, Suzuki T.SourceDivision of Nephrology, Department of Medicine, Showa University School of Medicine, Japan.
• Clinical calcium.Clin Calcium.2012 Oct;22(10):1543-9.
• In the latter 1990s, phosphate, as well as calcium, has been shown to have a direct action on parathyroid function. Since then although many researchers have tried to detect the phosphate sensor in parathyroid gland, none has found it yet. In 2000s, the importance of FGF23 was revealed in patients w
• PMID 23023635

Japanese Journal

• An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

• GRIBAA Moez,YOUNES Mohamed,BOUYACOUB Yosra,KORBAA Wided,BEN CHARFEDDINE Ilhem,TOUZI Mongi,ADALA Labiba,MAMAY Ons,BERGAOUI Naceur,SAAD Ali
• Journal of bone and mineral metabolism 28(1), 111-115, 2010-01-30
• NAID 10027206869

• 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, 2006-10-00
• NAID 110006794331

• The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency

• BAI XY
• J Biol Chem 278, 9843-9849, 2003
• NAID 80015875088

Related Links

• Autosomal Dominant Hypophosphatemic Rickets: A Case ...

Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date.

• Autosomal Dominant Hypophosphatemic Rickets - an ...

Autosomal dominant hypophosphatemic rickets (ADHR) is a disorder that is characterized by rickets, osteomalacia, a short stature, bone pain, and dental abscesses due to the excessive excretion of Pi in the urine, and a gain-of-function mutation in the FGF23 gene has been identified as the mutation responsible for this disorder ( ADHR consortium ...

• Autosomal dominant hypophosphatemic rickets (Concept Id ...

Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with

Related Pictures

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★リンクテーブル★

リンク元	「ADHR」「常染色体優性低リン血症性くる病」
関連記事	「dominant」「hypophosphatemic」「autosomal」「autosomal dominant」

「ADHR」

　　[★] 常染色体優性低リン血症性くる病 autosomal dominant hypophosphatemic rickets

「常染色体優性低リン血症性くる病」

　　[★]

英

autosomal dominant hypophosphatemic rickets ADHR

「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

「autosomal」

　　[★]

• adj.

• 常染色体性の、常染色体の

関

autosomally、autosome

　

「autosomal dominant」

　　[★]

• 常染色体優性の、常染色体優性遺伝性の