| 词条 | Rhizomelic chondrodysplasia punctata |
| 释义 |
| name = Rhizomelic chondrodysplasia punctata | synonyms = | image = File:Plasmologen.svg | caption = Low levels of plasmologen is a characteristic of Rhizomelic chondrodysplasia punctata. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = PEX7 gene, GNPAT gene and AGPS gene mutations[1] | risks = | diagnosis = Clinical and radiologic finding[2] | differential = | prevention = | treatment = Physical therapy[3] | medication = | prognosis = | frequency = | deaths = }}Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.[1] Signs and symptomsRhizomelic chondrodysplasia punctata has the following symptoms:[3][1]
GeneticsThis condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.[2] PathophysiologyThe mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that count on PEX7 and are:[3][3]
DiagnosisThe diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing[4] as well as radiography results, plus a physical examination of the individual.[5] Types
TreatmentManagement of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.[6] However, the prognosis is poor in this condition.[5] See also
References1. ^{{cite web|title=Rhizomelic chondrodysplasia punctata type 1 {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1|website=rarediseases.info.nih.gov|accessdate=23 January 2017|language=en}} 2. ^1 2 {{Cite web|url=https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata|title=rhizomelic chondrodysplasia punctata|last=Reference|first=Genetics Home|website=Genetics Home Reference|access-date=2017-01-16}} 3. ^{{Cite book|url=https://books.google.com/?id=f_mODAAAQBAJ&pg=PA620&dq=rhizomelic+chondrodysplasia+punctata+mechanism#v=onepage&q=rhizomelic%20chondrodysplasia%20punctata%20mechanism&f=false|title=Pediatric Neuro-Ophthalmology|last=Brodsky|first=Michael C.|date=2016-06-28|publisher=Springer|isbn=9781493933846|location=|pages=620|language=en|quote=|via=}} 4. ^{{cite web|title=Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C1859133/|website=www.ncbi.nlm.nih.gov|accessdate=23 January 2017|language=en}} 5. ^1 2 {{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Rhizomelic chondrodysplasia punctata|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=177|website=www.orpha.net|accessdate=23 January 2017|language=en}} 6. ^1 2 3 4 {{cite journal|last1=Braverman|first1=Nancy E.|last2=Moser|first2=Ann B.|last3=Steinberg|first3=Steven J.|title=Rhizomelic Chondrodysplasia Punctata Type 1|journal=GeneReviews(®)|date=1 January 1993|url=https://www.ncbi.nlm.nih.gov/books/NBK1270/|accessdate=16 January 2017}}update 2012 7. ^{{cite web|title=OMIM Entry - # 222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2|url=https://omim.org/entry/222765|website=omim.org|accessdate=16 January 2017}} 8. ^{{Cite web|url=https://omim.org/entry/600121|title=OMIM Entry - # 600121 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3|website=omim.org|access-date=2017-01-16}} Further reading
External links{{Medical resources| DiseasesDB = 31410 | ICD10 = {{ICD10|Q|77|3|q|65}} | ICD9 = {{ICD9|277.86}} | ICDO = | OMIM = 215100 | OMIM_mult = {{OMIM2|222765}} {{OMIM2|600121}} | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D018902 }}{{Osteochondrodysplasia}}{{Peroxisomal disorders}}{{DEFAULTSORT:Rhizomelic Chondrodysplasia Punctata}} 2 : Genodermatoses|Peroxisomal disorders |
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