低リン症性ビタミンD抵抗性くる病
WordNet
- impervious to being affected; "resistant to the effects of heat"; "resistant to persuasion"
- the 4th letter of the Roman alphabet (同)d
- any of a group of organic substances essential in small quantities to normal metabolism
- childhood disease caused by deficiency of vitamin D and sunlight associated with impaired metabolism of calcium and phosphorus (同)rachitis
PrepTutorEJDIC
- 抵抗力のある;(…に)抵抗する《+『to』+『名』》
- deuteriumの化学記号
- 『ビタミン』,栄養素(身体の喜常な機能を維持するために少量ながら必要な有機化合物)
- くる病
- (おもに人称代名詞・固有名詞(人名),thereの後で)had, wouldの短縮形 / (疑問文でwhere,what,whenの後で)didの短縮形;Where'd he go?=Where did he go?
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/19 17:27:12」(JST)
[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 article/922305
MeshName = |
| MeSH |
D053098 |
X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets ,[1] 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.[2] The prevalence of the disease is 1:20000.[3] The leg deformity can be treated with Ilizarov frames and CHAOS surgery.
Contents
- 1 Cause and Genetics
- 2 Treatment
- 3 See also
- 4 References
- 5 External links
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.[1][2][4] The PHEX protein regulates another protein called fibroblast growth factor 23 (produced from the FGF23 gene). Fibroblast growth factor 23 normally inhibits the kidneys' ability to reabsorb phosphate into the bloodstream. Gene mutations in PHEX prevent it from correctly regulating fibroblast growth factor 23. The resulting overactivity of this protein reduces phosphate reabsorption by the kidneys, leading to hypophosphatemia and the related features of hereditary hypophosphatemic rickets. Also, in the absence of PHEX enzymatic activity, osteopontin[5] — a mineralization-inhibiting secreted substrate protein found in the extracellular matrix of bone[6] — may accumulate in the bone to contribute to the osteomalacia as shown in the mouse homolog (Hyp) of XLH.[7] 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 affected by this disease usually cannot touch both knees and ankles together.
The disorder is inherited in an X-linked dominant manner.[1][2] 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.
Treatment
Oral phosphate,[8] calcitriol,[8] And, in the event of severe bowing, an Osteotomy may be performed to correct the leg shape.[citation needed]
See also
References
- ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 307800"HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR". 23 May 2011.
- ^ a b c Saito, T.; Nishii, Y.; Yasuda, T.; Ito, N.; Suzuki, H.; Igarashi, T.; Fukumoto, S.; Fujita, T. (Oct 2009). "Familial hypophosphatemic rickets caused by a large deletion in PHEX gene". European Journal of Endocrinology 161 (4): 647–651. doi:10.1530/EJE-09-0261. PMID 19581284. edit
- ^ Carpenter TO (Apr 1997). "New perspectives on the biology and treatment of X-linked hypophosphatemic rickets". Pediatr. Clin. North Am. 44 (2): 443–466. doi:10.1016/S0031-3955(05)70485-5. PMID 9130929.
- ^ 300550"PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX". 18 April 2011.
- ^ Sodek, J; et al (2000). "Osteopontin". Critical Reviews in Oral Biology and Medicine 11 (3): 279–303. doi:10.1177/10454411000110030101. PMID 11021631.
- ^ McKee, MD; et al (2005). "Hierarchies of extracellular matrix and mineral organization in bone of the craniofacial complex and skeleton". Cells Tissues Organs 181 (3–4): 176–188. doi:10.1159/000091379. PMID 16612083.
- ^ Barros, NMT; et al (2013). "Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia". Journal of Bone and Mineral Research 28 (3): 688–699. doi:10.1002/jbmr.1766. PMID 22991293.
- ^ a b Imel, E. A.; DiMeglio, L. A.; Hui, S. L.; Carpenter, T. O.; Econs, M. J. (15 February 2010). "Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations". Journal of Clinical Endocrinology & Metabolism 95 (4): 1846–1850. doi:10.1210/jc.2009-1671. PMC 2853995. PMID 20157195.
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
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Inborn error of metal metabolism (E83, 275)
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| Transition metal |
| Fe |
| high: |
- Primary iron overload disorder: Hemochromatosis/HFE1
- Juvenile/HFE2
- HFE3
- African iron overload/HFE4
- Aceruloplasminemia
- Atransferrinemia
- Hemosiderosis
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| deficiency: |
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| Cu |
| high: |
- Copper toxicity
- Wilson's disease
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| deficiency: |
- Copper deficiency
- Menkes disease/Occipital horn syndrome
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| Zn |
| high: |
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| deficiency: |
- Acrodermatitis enteropathica
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| Electrolyte |
| Na+ and K+ |
- see Template:Water-electrolyte imbalance and acid-base imbalance
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| PO43− |
| high: |
|
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| deficiency: |
- Hypophosphatemia
- alkaline phosphatase
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| Mg2+ |
|
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| Ca2+ |
| high: |
- Hypercalcaemia
- Milk-alkali syndrome (Burnett's)
- Calcinosis (Calciphylaxis, Calcinosis cutis)
- Calcification (Metastatic calcification, Dystrophic calcification)
- Familial hypocalciuric hypercalcemia
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| deficiency: |
- Hypocalcaemia
- Osteomalacia
- Pseudohypoparathyroidism (Albright's hereditary osteodystrophy)
- Pseudopseudohypoparathyroidism
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noco, nuvi, sysi/epon, met
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Sex linkage: X-linked disorders
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X-linked recessive
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Kennedy disease
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
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UpToDate Contents
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English Journal
- Failure of tension band plating: a case series.
- Masquijo JJ1, Firth GB, Sepúlveda D.
- Journal of pediatric orthopedics. Part B.J Pediatr Orthop B.2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367.
- PMID 27398644
- Targeted inhibition of Klotho binding to fibroblast growth factor 23 prevents hypophosphetemia.
- Fakhar M1, Rashid S2.
- Journal of molecular graphics & modelling.J Mol Graph Model.2017 Aug;75:9-19. doi: 10.1016/j.jmgm.2017.04.024. Epub 2017 Apr 27.
- PMID 28501532
- Evaluation of a New Fully Automated Assay for Plasma Intact FGF23.
- Souberbielle JC1, Prié D1, Piketty ML1, Rothenbuhler A2, Delanaye P3, Chanson P4,5, Cavalier E6.
- Calcified tissue international.Calcif Tissue Int.2017 Jul 31. doi: 10.1007/s00223-017-0307-y. [Epub ahead of print]
- PMID 28761972
Japanese Journal
- 低リン血症性ビタミンD抵抗性くる病におけるO脚変形の治療経験
- 低リン血症性ビタミンＤ抵抗性くる病におけるＯ脚変形の治療経験
- 家族性低リン血症性ビタミンD抵抗性くる病--当院における20症例についての検討 (特集 小児内分泌学の進歩2008)
Related Links
- ... leading to the term vitamin D resistant rickets. (See Etiology and Treatment.) With recent advances in the understanding of the genetic basis of familial hypophosphatemic rickets, the name of X-linked hypophosphatemic [1 ...
- Vitamin D resistant rickets Author: Doctor Michèle Garabédian1 Creation Date: January 2002 Scientific Editor: Professeur Didier Lacombe 1Endocrinologie, métabolisme et développement, CNRS UPR 1524, Hôpital Saint-Vincent de ...
★リンクテーブル★
[★]
- 英
- hypophosphatemic vitamin D-resistant rickets
- 同
- 低P血症性ビタミンD抵抗性くる病
[★]
[★]
- 関
- recalcitrance、refractory、resist、resistance、resistive、stand、tolerance、tolerant、withstand
[★]
- 関
- hypophosphataemia、hypophosphataemic、hypophosphatemia