Abstract
We have previously shown that patients with renal fibromuscular dysplasia (FMD) have asymptomatic carotid lesions and that familial forms may occur. The objective of this study was to test whether carotid lesions could be detected in relatives of familial cases. High-resolution echotracking of the carotid artery was performed in 47 relatives of 13 cases from six families. This non-invasive investigation led to a semiquantitative arterial score that was compared with that obtained for 47 controls matched for age and sex and that for 125 sporadic cases. Familial resemblance was tested by using a generalized estimating equation approach taking into account the clustering of scores in families. As expected, FMD cases had a significantly higher score than controls (4.02 vs 2.52, P<10−5). Familial cases were not significantly different from sporadic cases. Of interest, the 47 apparently healthy relatives of familial cases had also a high carotid score (4.17), very significantly higher than that of controls (2.52, P<10−5) even though lower than the corresponding index FMD cases (4.81, P=0.01). Segregation analysis showed that 52% of the descendants of subjects with a score >4 had a score >4, a proportion consistent with autosomal-dominant transmission of the trait. Altogether these results strengthen the hypothesis of renal FMD being a systemic arterial disease and argue for a familial resemblance that may be due to a major genetic effect. The carotid score obtained by high-resolution echotracking may provide a non-invasive surrogate marker for renal FMD of potential value for use in linkage strategies on large pedigrees.
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Acknowledgements
This study was sponsored by funds from INSERM (Institut National de la Santé et de la Recherche Médicale), Assistance Publique - Hôpitaux de Paris Association Naturalia and Biologia, Agence Nationale pour la Recherche (ANR) and from the Programme National de Recherche Cardiovasculaire (PNRC). Jérôme Perdu holds grants from the Fondation pour la Recherche Médicale (FRM), the Fond d’Études et de Recherche du Corps Médical (FERCM) of Assistance Publique – Hôpitaux de Paris, the Société Française d’Hypertension Artérielle (SFHTA) and received the Société Française de Cardiologie (SFC) and Pfizer laboratories Award. We thank the technical staff of the laboratory of Molecular Genetics and the Clinical Investigation Center at HEGP and Julie Sappa for editing the paper.
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Perdu, J., Boutouyrie, P., Bourgain, C. et al. Inheritance of arterial lesions in renal fibromuscular dysplasia. J Hum Hypertens 21, 393–400 (2007). https://doi.org/10.1038/sj.jhh.1002156
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DOI: https://doi.org/10.1038/sj.jhh.1002156
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