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Lymphatic dysfuncti...
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Mellor, Russell H
(författare)
Lymphatic dysfunction, not aplasia, underlies Milroy disease.
- Artikel/kapitelEngelska2010
Förlag, utgivningsår, omfång ...
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2010-04-08
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Wiley,2010
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printrdacarrier
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LIBRIS-ID:oai:DiVA.org:uu-287152
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-287152URI
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https://doi.org/10.1111/j.1549-8719.2010.00030.xDOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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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.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Hubert, Charlotte E
(författare)
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Stanton, Anthony W B
(författare)
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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)
Sammanhörande titlar
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Ingår i:Microcirculation: Wiley17:41073-96881549-8719
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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...
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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
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Uppsala universitet