| 词条 | HUPRA syndrome |
| 释义 |
| name = HUPRA syndrome | synonyms = Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | image = Autosomal recessive - en.svg | alt = | caption = HUPRA syndrome is inherited via autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = Less than one in a million | deaths = }}HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area.[1] One of the two infants' parents were related.[1] It was later described in a third infant from the same village, whose parents were not related.[1] The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. And it's due to mutations in the mitochondrial SARS enzyme.[1] It's an autosomal recessive disease, that has a prevalence of less than one in a million.[2] One in fifteen of the village's inhabitants were found to carry the genetic mutation.[1] PresentationThose affected were born prematurely, and suffered from feeding difficulties and developmental delays.[1] They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.[1] GeneticsThe cause of this condition is a mutation in the SARS2 gene (seryl-tRNA synthetase enzyme) which has to do with protein translation. Furthermore, the HUPRA syndrome is autosomal recessive in its inheritance pattern. It is located on chromosome 19 (19q13.2).[3][4] Diagnosis{{Empty section|date=July 2017}}TreatmentCurrently there is no curative treatment. See also
References1. ^1 2 3 4 5 6 {{cite journal|last1=Belostotsky|first1=Ruth|last2=Ben-Shalom|first2=Efrat|last3=Rinat|first3=Choni|last4=Becker-Cohen|first4=Rachel|last5=Feinstein|first5=Sofia|last6=Zeligson|first6=Sharon|last7=Segel|first7=Reeval|last8=Elpeleg|first8=Orly|last9=Nassar|first9=Suheir|last10=Frishberg|first10=Yaacov|title=Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome|journal=The American Journal of Human Genetics|date=February 2011|volume=88|issue=2|pages=193–200|doi=10.1016/j.ajhg.2010.12.010|pmid=21255763|url=|publisher=Am J Hum Genet|language=English|pmc=3035710}} 2. ^{{cite web|title=Orphanet: Hyperuricemia pulmonary hypertension renal failure alkalosis syndrome|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694|website=www.orpha.net|accessdate=20 January 2017|language=en}} 3. ^{{cite web|title=OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS|url=https://www.omim.org/entry/613845|website=www.omim.org|accessdate=20 January 2017|language=en-us}} 4. ^{{cite web|title=OMIM Entry - * 612804 - SERYL-tRNA SYNTHETASE 2; SARS2|url=https://www.omim.org/entry/612804|website=www.omim.org|accessdate=20 January 2017|language=en-us}} External links{{Medical resources| ICD10 = N15-8 | ICD9 = | ICDO = | OMIM = 613845 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 363694 }}{{Mitochondrial diseases}}{{Medicine|state=collapsed}} 2 : Mitochondrial diseases|Rare syndromes |
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