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Lymphatic dysfuncti...
Lymphatic dysfunction, not aplasia, underlies Milroy disease.
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Mellor, Russell H (författare)
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Hubert, Charlotte E (författare)
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Stanton, Anthony W B (författare)
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visa fler...
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Tate, Naomi (författare)
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Akhras, Victoria (författare)
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Smith, Alberto (författare)
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Burnand, Kevin G (författare)
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Jeffery, Steve (författare)
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Mäkinen, Taija (författare)
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Levick, J Rodney (författare)
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Mortimer, Peter S (författare)
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- 2010-04-08
- 2010
- Engelska.
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Ingår i: Microcirculation. - : Wiley. - 1073-9688 .- 1549-8719. ; 17:4
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- OBJECTIVE: Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.METHODS: The skin of the swollen foot and the non-swollen forearm was examined by (i) fluorescence microlymphangiography, to quantify functional initial lymphatic density in vivo; and (ii) podoplanin and LYVE-1 immunohistochemistry of biopsies, to quantify structural lymphatic density. Leg vein function was assessed by colour Doppler duplex ultrasound.RESULTS: Milroy patients exhibited profound (86-91%) functional failure of the initial lymphatics in the foot; the forearm was unimpaired. Dermal lymphatics were present in biopsies but density was reduced by 51-61% (foot) and 26-33% (forearm). Saphenous venous reflux was present in 9/10 individuals with VEGFR3 mutations, including two carriers.CONCLUSION: We propose that VEGFR3 mutations in humans cause lymphoedema through a failure of tissue protein and fluid absorption. This is due to a profound functional failure of initial lymphatics and is not explained by microlymphatic hypoplasia alone. The superficial venous valve reflux indicates the dual role of VEGFR-3 in lymphatic and venous development.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
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- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Mellor, Russell ...
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Hubert, Charlott ...
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Stanton, Anthony ...
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Tate, Naomi
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Akhras, Victoria
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Smith, Alberto
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visa fler...
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Burnand, Kevin G
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Jeffery, Steve
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Mäkinen, Taija
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Levick, J Rodney
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Mortimer, Peter ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
- Artiklar i publikationen
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Microcirculation
- Av lärosätet
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Uppsala universitet