Publications by authors named "T Quinaux"
Article Synopsis
- - A 17-year-old Caucasian male experienced severe health issues including acute renal failure and anemia after five days of diarrhea, with stool cultures revealing a germ often linked to hemolytic uremic syndrome (HUS) although its role was uncertain.
- - Initial tests ruled out common triggers of HUS, but the patient's condition worsened, leading to emergency renal replacement therapy and subsequent acute heart failure.
- - After identifying a specific genetic mutation related to the complement pathway, the patient received eculizumab treatment, which improved his heart function and kidney performance, but he required ongoing dialysis and long-term therapy for potential disease recurrence.
Article Synopsis
- The paper investigates how CTNS mutations and cysteamine therapy affect human osteoclasts, focusing on bone complications in cystinosis patients.
- It involved 17 mainly pediatric patients, examining their blood cells to see how well they differentiate into osteoclasts when treated with various cysteamine doses.
- Findings reveal that patients with different CTNS mutations show distinct osteoclast differentiation patterns, and high doses of cysteamine negatively influence this process across all mutation types.
We describe here the case report of a young man of 34-years old suffering from a haemorrhagic rectocolitis and presenting with marked hypophosphatemia secondary to an infusion of ferric-carboxymaltose. The renal phosphate wasting was asserted by a very low renal maximal reabsorption rate of phosphate associated with a high plasma FGF-23 level. Three months later we explored the patient and his father since we learnt that both of them had suffered from kidney stones for years with marked hypercalciuria.
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- - Sensenbrenner syndrome, a complex genetic disorder, manifests with features like abnormal head shape, kidney disease, liver issues, vision problems, and brain abnormalities, sharing some similarities with other similar disorders.
- - A review of four children treated for Sensenbrenner syndrome revealed genetic variants in WDR35 or WDR19, with all patients eventually developing end-stage kidney disease.
- - Early diagnosis of craniosynostosis (like scaphocephaly) can lead to quicker identification of Sensenbrenner syndrome; thus, coordinated care from specialized teams is crucial for managing the disease and its complications.
Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of management relies on cysteamine therapy to decrease lysosomal cystine accumulation in target organs.
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