Publications by authors named "Bacchetta J"
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFBackground And Objective: In 2022, recommendations for vitamin D supplementation in children were updated in France. The objective of this study was to assess real-life practices of vitamin D supplementation in children following these recommendations.
Methods: A thirty-three-question questionnaire was distributed to members of the scientific societies of paediatrics and general medicine via an online platform.
Unlabelled: Cystinosis metabolic bone disease (CMBD) is an emerging concept in infantile nephropathic cystinosis, patients presenting with bone pains, fractures, and deformations during teenage or early adulthood. The underlying mechanisms remain unclear. Our aim was to explore the pro-inflammatory profile of osteoclastic lineage in cystinotic patients.
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- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied. We aimed to analyze intrafamilial clinical heterogeneity and disease course among siblings in a large cohort of familial PH1 cases.
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- - Atypical hemolytic uremic syndrome (aHUS) is a condition caused by issues with the complement system, particularly due to Factor H deficiency, and is typically treated with eculizumab for life.
- - Two young patients with Factor H deficiency on long-term eculizumab therapy exhibited unusual bone issues, including pain and deformities, with diagnostic imaging revealing active bone remodeling and C3c accumulation.
- - The bone alterations observed may either be a side effect of eculizumab treatment or a result of the deficiency of Factor H, indicating a need for further research into the bone health of aHUS patients.
Article Synopsis
- The study investigates mineral bone disorder in patients with chronic kidney disease after kidney transplantation, focusing on bone biomarkers and microarchitecture changes before and 6 months after the surgery.
- A subgroup of patients aged 10 to 18 who underwent their first kidney transplant was compared to healthy controls, revealing initially higher bone densities but notable declines in trabecular microarchitecture at the radius six months post-transplant.
- Despite some improvements in bone health, many patients persisted with metabolic issues like acidosis and elevated parathyroid hormone levels after the transplant, indicating ongoing bone metabolism concerns.
Article Synopsis
- - The study focuses on the impact of Hepatocyte Nuclear Factor 1-beta (HNF1B) gene variants and chromosome 17q12 deletion (17q12del) on kidney disease progression, particularly chronic kidney disease (CKD), in a large cohort of 521 patients.
- - Findings reveal that patients with the 17q12del experience a significant delay in the progression to CKD stage 3 compared to those with other HNF1B variants, with specific mutations in the DNA-binding domains correlating with even better outcomes.
- - Additionally, the 17q12del is linked to lower magnesium levels (hypomagnesemia) and higher likelihood of elevated uric acid levels (hyperuric
Article Synopsis
- Genetic testing plays a vital role in diagnosing inherited kidney diseases, as demonstrated by the case of a premature boy with complex tubulopathy who was unexpectedly diagnosed with primary hyperoxaluria type 1 (PH1).
- Despite initial treatments, the patient experienced persistent electrolyte imbalances and progressive kidney issues, prompting comprehensive genetic analysis.
- The identification of mutations in the AGXT gene led to the correct diagnosis, highlighting the importance of thorough genetic evaluations, especially in unusual cases.
Introduction: Secondary hyperparathyroidism (sHPT) is particularly severe in rapidly growing infants in dialysis. Although cinacalcet is effective and licensed in dialysis in children aged >3 years, its efficacy and safety for children aged <3 years is unknown.
Methods: We identified 26 children aged <3 years who were on dialysis and treated with cinacalcet between 2009 and 2021 in 8 European pediatric centers.
Article Synopsis
- The study investigates the link between social deprivation and the incidence of kidney replacement therapy (KRT) among children and young adults in France, showing a correlation between higher social deprivation and increased KRT rates.
- Analyzed data from 2010 to 2015, including 672 children who started KRT, revealing that 38.8% were from the most deprived areas, with higher incidence rates as deprivation increased.
- Results indicate that social health inequalities emerge even at the initiation of KRT, emphasizing the importance of addressing these inequalities in chronic kidney disease management.
Article Synopsis
- Endocrine disruptors (ED) are widespread pollutants linked to chronic diseases, particularly affecting vulnerable groups like infants and children, highlighting a need for better information for parents.
- A study conducted at Lyon Mother and Child Hospital surveyed 746 individuals, including 444 pediatric healthcare professionals and 302 parents, revealing that while most had heard of ED, only 10% of parents and 5% of professionals felt well-informed about them.
- The findings showed that professionals generally had better knowledge than parents (73% vs. 60%), but only a small percentage had engaged with scientific literature or training on EDs, indicating the necessity for specific educational initiatives.
Introduction: We investigated the relationship between metabolic acidosis over time and allograft outcome in pediatric kidney transplantation (KTx).
Methods: This registry study collected data up to 10 years posttransplant. Survival analysis for a composite end point of graft loss or estimated glomerular filtration rate (eGFR) ≤ 30 ml/min per 1.
Article Synopsis
- Evaluating glomerular filtration rate (GFR) in children is tough, prompting the development of new estimation formulas which were tested in a pediatric population at a nephrology center.
- In a study of 307 patients deemed at "kidney risk," both creatinine-based and cystatin C-based formulas were used to assess GFR against measued values, revealing that creatinine-based formulas often overestimate GFR across various age groups.
- Ultimately, the study found that cystatin C-based equations and combined formulas performed significantly better in providing accurate GFR estimations, particularly in patients with higher measured GFR values.
Article Synopsis
- - Primary hyperoxalurias (PH) are rare genetic disorders that can lead to significant diagnostic delays, adversely affecting patient health outcomes.
- - A study of 52 patients revealed that adults experienced much longer diagnostic delays (30 years on average) compared to children (1.2 years), with renal colic being the main symptom for adults.
- - The findings highlight the need for greater awareness among healthcare professionals about these conditions to improve early detection and management, despite existing support structures for rare diseases.
Article Synopsis
- Primary hyperoxaluria (PH) is a rare genetic disorder affecting glyoxylate metabolism, and nedosiran is an FDA-approved RNAi therapeutic for treating PH1, evaluated in the PHYOX3 trial.
- The trial analyzed the safety and efficacy of monthly nedosiran over 30 months in participants from a previous trial, with a focus on those with stable kidney function and no prior major interventions.
- Results showed significant reductions in urinary oxalate levels and overall well-tolerance of the treatment, with most participants experiencing only mild to moderate adverse effects, and the study is still ongoing.
Kidney failure has a negative impact on both children and families' quality of life (QOL). We evaluated the burden of home peritoneal dialysis (PD) using two local questionnaires and the French version of PedsQL3.0 end-stage kidney disease module and family impact module.
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- * Patients and families often face significant psychological and social difficulties, requiring support from psychologists and social workers, many of whom lack expertise in this specific disorder.
- * A committee of experts developed key insights and practical advice on addressing the psychosocial challenges associated with cystinosis, based on collective agreement due to the limited evidence available for rare diseases.
Introduction: Patients with short bowel syndrome (SBS) may exhibit enteric hyperoxaluria (EH), and the prevalence of oxalate nephropathy in SBS is likely underestimated. Plasma oxalate (POx) is a surrogate of systemic oxalate deposition and, consequently, may increase the risk of developing chronic kidney disease (CKD). The main objective of this study was to explore the distribution of POx levels in patients with SBS.
View Article and Find Full Text PDFAssess creatinine levels in French children with Down syndrome (DS) on the basis of the relationship between creatinine levels and age. The study included 279 children with DS aged 0 to 10 years who had been regularly monitored between 2004 and 2021 in a single genetics department and who had had at least one creatinine measurement. The creatinine level curves were established by estimating the median and the quantiles of order 2.
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