📇 Rhumatologue · BRON CEDEX · (69) · Salarié

MME AUDE BRAC DE LA PERRIERE

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3 raisons identifiées

Plateau technique de référence
Hospices Civils de Lyon (HCL) — équipements et expertise pointus pour les cas complexes
Praticien-chercheur
15 articles scientifiques publiés — formation continue solide
Délais de RDV courts dans la région
144.6 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 BRON CEDEX (69)SalariéRPPS 10003073367

📊 Reconnaissance scientifique : 19/100📝 70 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

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Indicateurs publics agrégés sur 250 M+ d'œuvres scientifiques (OpenAlex, PubMed). Traduits ici en langage patient.

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Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

Human reproduction (Oxford, England) · 2016

📚 158 citations🎯 RCR 7.84Top 4% NIH🔓 Open Access📄 PDF gratuit ↗

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

EBioMedicine · 2022

📚 67 citations🎯 RCR 5.98Top 6% NIH🔓 Open Access📄 PDF gratuit ↗

Triple-A syndrome: a wide spectrum of adrenal dysfunction

European journal of endocrinology · 2018

📚 31 citations🎯 RCR 1.36🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

Objective Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene, which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: alacrima, achalasia and adrenal insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to characterize the various spectra of adrenal function in Triple-A patients. Methods A retrospective clinical and biological monitoring of 14 patients (10 families) was done in a single multidisciplinary French center. All had AAAS gene sequenced and adrenal function evaluation. Results Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser). Regarding adrenal function, defects of the zona fasciculata and reticularis were demonstrated by increased basal ACTH levels and low DHEAS levels in all cases regardless of the degree of glucocorticoid deficiency. In contrast, mineralocorticoid function was always conserved: i.e., normal plasma renin level associated with normal aldosterone level. The main prognostic feature was exacerbation of neuropathy and cognitive disorders. Conclusions These data suggest that, in Triple-A patients, adrenal function can be deficient, insufficient or compensated. In our cohort after the first decade of life, there does not appear to be any degradation of adrenal function over time. However, patients with compensated adrenal function should be informed and educated to manage a glucocorticoid replacement therapy in case of stressful conditions, with no need for systematic long-term treatment.

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MME AUDE BRAC DE LA PERRIERE

Pourquoi vous devez consulter ce praticien

Activité de recherche & publications

Publications académiques en France

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Publications scientifiques (15) — classées par pathologie

Transversal7

Pédiatrie2

Corticothérapie1

Épidémiologie & registres1

Génétique1

IRM ostéo-articulaire1

Qualité de vie / PROMs1

Recommandations1

Vraie vie / RWE1

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