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Útgefið gæðaskjal: Leiðbeiningar
Skjalnúmer: Rklín-572
Útg.dags.: 02/28/2023
Útgáfa: 3.0
2.02.02.01 Mevalonic acid

Samheiti: Mevalonsyre, Mevalonat
Hide details for Sýnataka, geymsla og sýnasending Sýnataka, geymsla og sýnasending
Gerð sýnis : Þvag

Magn: 10 ml (min 5 ml)
Geymsla sýnis: Frystir
Sýnasending: Þurríssending til útlanda.
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ANNAÐUT

Beiðni:Beiðni Metabolisk Lab.pdfBeiðni Metabolisk Lab.pdf Svartími einn mánuður og lengur ef fleiri mælingar eru á sömu beiðni.
Hide details for Heiti tilvísunarannsóknastofu og heimilisfangHeiti tilvísunarannsóknastofu og heimilisfang
Metabolisk Laboratorium 4061
Klinisk Genetisk Afdeling
Juliane Marie Centret
Blegdamsvej 9, 2100 København Ø
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  NPU27072 Mevalonat / Kreatinin;U (× 10-3)
Betegnelse i SP 
  UMEVALON U—Mevalonat / Kreatinin (× 10-3)
Betegnelse i Labka
  U—Mevalonsyre (× 10-3)
Betegnelse i laboratoriet

RekvireringLabka/rekvisitionsseddel
Web-adresse til rekvisitionsseddelLink til rekvisitionsseddel
Kode (SP)NPU27072
Analyse/undersøgelsesnavn - SPMevalonat / Kreatinin;U
IndikationMistanke om Hyper IgD Syndrom (HIDS, mevalonatkinase mangel)
Oplysninger ved rekvireringKliniske oplysninger bedes oplyst i forbindelse med rekvirering
PrøvematerialeUrin
Volumen/mængde10 ml (min. 5 ml)
Prøvebeholder inkl. additiverSpids PS (Klart plastspidsglas, usterilt med skruelåg)
Mærkning af (primær) prøvebeholderPatientens CPR-nr. og navn
Prøvetagning, herunder særlige forholdSkal opsamles under feber
Opbevaring, holdbarhed og forsendelseSpidsglasset fryses straks ved -20 °C.

Alm. postforsendelse: Mandag – onsdag i frossen tilstand efter gældende transportregler på tøris. Må ikke afsendes dagen før en helligdag.
Opbevares ved -20 °C indtil forsendelse.
Svartid1 måned (evt. længere ved samtidig rekvirering af andre analyser)
SvarafgivelsePr. brev
Ekstern Pris (kr.)2.293
KontaktmulighederPrøvemodtagelsen: 3545 4061, https://www.rigshospitalet.dk/metlab
Afleveringssted og afleveringstidspunktMetabolisk Laboratorium 4061
Klinisk Genetisk Klinik
Rigshospitalet
Blegdamsvej 9
2100 København Ø
Mandag-torsdag: 8.00-15.00, fredag: 8.00-12.00
Gyldig fra07/01/2015
AkkrediteretNej
Indtastet/gennemset af23/05/2016 Initialer : ERN



Fróðleikur:






     The periodic fever syndromes encompass a group of autoinflammatory disorders characterized by recurrent fevers and inflammation in the absence of infectious triggers.   Mevalonate kinase deficiency is an autosomal recessive form of periodic fever syndrome.  
 
     The clinical spectrum of mevalonate kinase deficiency is broad, ranging from mild (Hyper IgD syndrome) to severe (mevalonic aciduria).  These two diseases were initially described as two separate entities, but it is now clear that the underlying molecular cause is the same.  In HIDS the mevalonate kinase activity is 1-10% while in MVA the kinase activity is completely absent.    
 
Hyper IgD Syndrome (HIDS)  This disease is characterized by the onset of episodic fevers before the first year of life lasting 3-7 days and recurring every 2-8 weeks.  Attacks of fever are associated with skin rash, cervical lymphadenopathy, diarrhea, arthritis/arthralgia, oral ulcerations, abdominal pain, and hepatosplenomegaly.  Attacks can be provoked by vaccinations, stress, and viral infections.  Serum IgD are elevated (>100 IU/ml) in the majority of patients during and between attacks (20% of patients can have normal IgD levels).  IgA levels are also increased in 80% of patients.  
 
Mevalonic Aciduria (MVA)  Patients with mevalonic aciduria are characterized by recurrent febrile episodes similar to hyper IgD syndrome.  However, patients also exhibit dysmorphic facial features (microcephaly, low-set posteriorly rotated ears, down slanted palpebral fissures), ataxia, mental retardation, cataracts, and failure to thrive.  Patients have greatly elevated mevalonic acid levels in the urine during and between attacks.
  
     The overall prognosis for HIDS is quite good with a relatively benign clinical course.  Amyloidosis can be a serious complication, but it has been reported in only 3% of HIDS patients.  However, patients with severe early onset MVA can have significant premature mortality during infancy or early childhood.  
Image result for mevalonic acid in urine



Ritstjórn

Ingibjörg Loftsdóttir
Sigrún H Pétursdóttir
Guðmundur Sigþórsson
Kristín Sigurgeirsdóttir

Samþykkjendur

Ábyrgðarmaður

Ísleifur Ólafsson

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Sigrún H Pétursdóttir

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