Publications by authors named "Regine Perrichot"
Background: Sphingolipidoses are rare inherited metabolic diseases belonging to lysosomal diseases. Early and accurate diagnosis is crucial for effective management and treatment. In this study, we aimed to develop a robust method to accelerate the diagnosis of these sphingolipidoses using dried blood spots and plasma.
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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.*
Introduction: ANCA-vasculitis are associated with high morbidity and mortality. Large use of cyclophosphamide as induction immunosuppressive therapy is limited by its side effects. All recent literature trends in decreasing cumulative dose while optimizing maintenance therapy.
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- The study focuses on predicting renal outcomes in patients with autosomal dominant polycystic kidney disease (ADPKD) using a prognostic model based on genetic and clinical factors.
- Four key variables were identified that influence the age at which patients may reach end-stage renal disease (ESRD), leading to a scoring system that categorizes patients into low, intermediate, or high risk for ESRD progression.
- The new scoring system can help tailor treatment plans by accurately forecasting ESRD onset, with high predictive values for early and delayed progression based on individual patient scores.
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genkyst cohort and confirmed that renal survival associated with PKD2 mutations was approximately 20 years longer than that associated with PKD1 mutations.
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