Publications by authors named "Siriane Lefevre"
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are the two major genes associated with ADPKD; other genes include IFT140, GANAB, DNAJB11, and ALG9. Genetic testing remains inconclusive in ∼7% of the families.
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- Autosomal dominant polycystic kidney disease (ADPKD) increases the chance of getting brain aneurysms (IAs). In a study with 2,449 patients, 114 had a history of IAs.* -
- Most aneurysms were small and many people had more than one; the risk of having IAs grows as people get older, especially for women after age 50.* -
- Factors that raised the risk for IAs included being female, having high blood pressure at a young age, smoking, and having a specific gene type (PKD1). The study suggests that estrogen might help protect against IAs in women.*
Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype.
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