Aspects héréditaires et génétiques de la maladie de Raynaud

Pistorius, M.‐A.; Planchon, B.; Jj, Schott; LeMarec, Hervé

doi:10.1016/s0398-0499(06)76512-x

Cited by 13 publications

(6 citation statements)

References 27 publications

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“…Genetic factors appear to play an important role in the development of RP as demonstrated in familial and twin studies. 13 Indeed, previous work has demonstrated half of patients with PRP have positive family history with first degree relatives having RP. 6…”

Section: Geneticmentioning

confidence: 99%

Raynaud's phenomenon

Haque

Hughes

2020

Clinical Medicine

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Section: Geneticmentioning

confidence: 99%

Raynaud's phenomenon

Haque

Hughes

2020

Clinical Medicine

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“…These candidate genes are the beta subunit of the muscle acetylcholine receptor and the serotonin 1B and 1E receptors (Susol et al, 2000). Nonetheless, others continued to suggest that there is a genetic factor contributing to the prevalence of this disease (Pistorius et al, 2006). This assertion is supported by familial studies and twin analysis (Pistorius et al, 2006).…”

Section: Rp and Genetic Backgroundmentioning

confidence: 99%

“…Nonetheless, others continued to suggest that there is a genetic factor contributing to the prevalence of this disease (Pistorius et al, 2006). This assertion is supported by familial studies and twin analysis (Pistorius et al, 2006). Recently, there was a reported case of a 1 month male baby diagnosed with RP (Sharathkumar and Castillo-Caro, 2011).…”

Section: Rp and Genetic Backgroundmentioning

confidence: 99%

Raynaud’s Phenomenon: A Brief Review of the Underlying Mechanisms

et al. 2016

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Raynaud’s phenomenon (RP) is characterized by exaggerated cold-induced vasoconstriction. This augmented vasoconstriction occurs by virtue of a reflex response to cooling via the sympathetic nervous system as well as by local activation of α2C adrenoceptors (α2C-AR). In a cold-initiated, mitochondrion-mediated mechanism involving reactive oxygen species and the Rho/ROCK pathway, cytoskeletal rearrangement in vascular smooth muscle cells orchestrates the translocation of α2C-AR to the cell membrane, where this receptor readily interacts with its ligand. Different parameters are involved in this spatial and functional rescue of α2C-AR. Of notable relevance is the female hormone, 17β-estradiol, or estrogen. This is consistent with the high prevalence of RP in premenopausal women compared to age-matched males. In addition to dissecting the role of these various players, the contribution of pollution as well as genetic background to the onset and prevalence of RP are also discussed. Different therapeutic approaches employed as treatment modalities for this disease are also highlighted and analyzed. The lack of an appropriate animal model for RP mandates that more efforts be undertaken in order to better understand and eventually treat this disease. Although several lines of treatment are utilized, it is important to note that precaution is often effective in reducing severity or frequency of RP attacks.

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“…There is some suggestion that elevated levels of homocysteine, a sulfur amino acid that is proposed as an independent risk factor for atherosclerosis, may have an association with RP [17,22,23]. RP appears to have a strong familial component suggesting a genetic link, though this link is yet to be clarified [20]. It is also unclear if constipation can exaggerate the imbalance of vasodilator and vascontrictor substances.…”

Section: Discussionmentioning

confidence: 99%

Primary Raynaud's phenomenon in an infant: a case report and review of literature

Sharathkumar

Castillo-Caro

2011

Pediatr Rheumatol

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Raynaud's phenomenon (RP) is an extremely unusual finding in early infancy. In the present report we describe a one-month-old previously healthy male infant who presented with unilateral acrocyanosis. Although infantile acrocyanosis is known to be a benign and self-resolving condition, it is generally bilateral and symmetric. The unilateral nature of the acrocyanosis was an atypical finding in this infant. Consequently, he was closely monitored to evaluate the progression of his acrocyanosis. Based on his benign clinical course and failure to demonstrate other etiologies contributing to his acrocyanosis, he was diagnosed to have primary RP. Due to the rarity of RP in children, we review the progress in understanding the pathophysiology, epidemiology and management of RP and additionally discuss the differential diagnosis of unilateral and bilateral acrocyanosis in infants.

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Aspects héréditaires et génétiques de la maladie de Raynaud

Cited by 13 publications

References 27 publications

Raynaud's phenomenon

Raynaud's phenomenon

Raynaud’s Phenomenon: A Brief Review of the Underlying Mechanisms

Primary Raynaud's phenomenon in an infant: a case report and review of literature

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