41 results match your criteria: "Centre de Référence Des Maladies Rares du Calcium et du Phosphore[Affiliation]"
Survey on vitamin D supplementation in children in France: Evaluation of real-life practices following the new 2022 French recommendations.
Arch Pediatr
November 2024
Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, ERN BOND, Children's Hospital, Toulouse University Hospital, Toulouse, France. Electronic address:
Background 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.
In vivo assessment of pediatric kidney function using multi-parametric and multi-nuclear functional magnetic resonance imaging: challenges, perspectives, and clinical applications.
Pediatr Nephrol
November 2024
Service de Néphrologie Et d'exploration Fonctionnelle Rénale, Hôpital Édouard-Herriot, Hospices Civils de Lyon, Lyon, France.
Article Synopsis
- Conventional kidney function tests like glomerular filtration rate offer limited insight, while advanced multi-parametric and multi-nuclear MRI techniques provide a more comprehensive understanding of kidney physiology, including assessing perfusion and tissue characteristics without invasive methods.
- Multi-parametric MRI can evaluate critical aspects of kidney health, such as fibrosis and oxygenation, while multi-nuclear MRI techniques like sodium and phosphorus MRI enable insights into sodium storage and oxidative metabolism, relevant for conditions like chronic kidney disease.
- These non-invasive MRI techniques are particularly advantageous for pediatric patients, allowing for longitudinal assessments and improved understanding of kidney function with minimal risk and short acquisition times.
Bone impairment in atypical hemolytic and uremic syndrome treated by long-term eculizumab.
Pediatr Nephrol
October 2024
Centre de Référence Des Maladies Rénales Rares, Centre de Référence Des Maladies Rares du Calcium Et du Phosphore, Filières Maladies Rares ORKID Et OSCAR, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1, Lyon, France.
Article Synopsis
- - 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.
Changes in bone density and microarchitecture in adolescents undergoing a first kidney transplantation: a prospective study.
Eur J Pediatr
December 2024
Centre de Référence Des Maladies Rénales Rares, Centre de Référence Des Maladies Rares du Calcium Et du Phosphore, Filières Maladies Rares ORKiD, OSCAR Et ERK-Net, Hôpital Femme Mère Enfant, 69677, Bron, France.
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.
Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).
Arch Pediatr
September 2024
AP-HP, Paris Saclay University, INSERM; Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie et diabète de l'enfant, Filières Santé Maladies Rares OSCAR, ERN endoRARE et BOND, Hôpital Bicêtre Paris-Saclay; U1185 physiologie et physiopathologie endocrinienne; Le Kremlin Bicêtre, France.
Article Synopsis
- - Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare disorder linked to mutations in the ENPP1 gene, leading to a variety of health issues, including GACI, OPLL, and pseudoxanthoma elasticum.
- - ARHR2 manifests with elevated serum FGF23 levels, causing phosphate loss in the kidneys, resulting in symptoms similar to other hypophosphatemic rickets, including rickets in children and osteomalacia in adults.
- - Genetic testing is crucial for diagnosing ARHR2 to ensure patients receive appropriate treatment options and access to clinical trials for new therapies.
Nutritional rickets: Refusing to turn back the clock.
Arch Pediatr
August 2024
Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service de Néphrologie Rhumatologie Dermatologie Pédiatriques, Filières Santé Maladies Rares OSCAR, ORKID et ERKNet, Hôpital Femme Mère Enfant, Bron, France; INSERM U1033, LYOS, Prévention des Maladies Osseuses, Lyon, France; Faculté de Médecine Lyon Est, Université de Lyon, Lyon, France.
P-MRS, molecular level imaging for assessing muscular mitochondrial dysfunction in chronic kidney disease.
Clin Kidney J
May 2024
Service de néphrologie et d'exploration fonctionnelle rénale, Centre de référence des maladies rares du calcium et du phosphore, Centre de référence des maladies rénales rares, filières de santé maladies rares OSCAR, ORKID et ERKNet, hôpital Édouard-Herriot, hospices civils de Lyon, Lyon, France.
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs.
Eur J Med Genet
April 2024
Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares, Filières OSCAR et ORKID, Filières Européennes Bond et ERKNet, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France; INSERM 1033, LYOS, Prévention des Maladies Osseuses, Lyon, France; Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare, disabling disease that requires a coordinated approach from various healthcare specialists due to the diverse needs of patients and caregivers.
- To better understand these needs, focus groups were organized with XLH children, adults, and caregivers, guided by trained professionals, to discuss their daily experiences and quality of life.
- The findings highlighted key areas of need such as knowledge about XLH, treatment options, dental care, and adapted physical activities, which were used to develop educational sessions and a therapeutic education program tailored to XLH patients and their caregivers.
Is 25OH Vitamin D Excess before 36 Weeks Corrected Age an Independent Risk Factor for Bronchopulmonary Dysplasia or Death?
Nutrients
October 2023
Service de Réanimation Néonatale et Néonatologie, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69677 Bron, France.
Article Synopsis
- Low 25-Hydroxyvitamin D (25(OH)D) levels in preterm infants are linked to an increased risk of developing bronchopulmonary dysplasia (BPD), but higher supplementation didn't show any positive effects on preventing BPD.
- This study analyzed infants born before 31 weeks gestation, tracking their 25(OH)D levels to assess the relationship between these levels and the risk of BPD or death.
- It found that while lower birth weight and gestational term were significantly associated with BPD and mortality, high levels of 25(OH)D (≥120 nmol/L) did not show a significant correlation with these outcomes.
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
Eur J Endocrinol
October 2023
AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.
Article Synopsis
- - This study aimed to analyze the final height (FH) trends in French patients with X-linked hypophosphatemia (XLH) over the past decades, as there was limited data on FH's natural history in this condition.
- - Researchers conducted a retrospective study involving 398 XLH patients, dividing them into three birth groups (1950-1974, 1975-2000, and 2001-2006) to compare their average final heights.
- - Results showed a significant increase in mean FH over the generations, with men still being shorter than women, indicating ongoing challenges in treating XLH. Despite improvements, many patients continue to have short stature, highlighting the need for continued progress.
Pediatric urolithiasis: what can pediatricians expect from radiologists?
Pediatr Radiol
April 2023
Service d'imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Article Synopsis
- * Unlike adults, where environmental factors are major contributors, children more frequently experience secondary causes of urolithiasis, particularly in recurrent cases with family history.
- * Ultrasound is the primary imaging method used for diagnosing and monitoring pediatric urolithiasis, with a focus on ruling out conditions like cystinuria and hyperoxaluria, requiring collaboration among pediatric nephrologists, surgeons, and radiologists for effective care.
X-Linked Hypophosphatemia, Not Only a Skeletal Disease But Also a Chronic Inflammatory State.
J Clin Endocrinol Metab
November 2022
Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares Filières Maladies Rares ORKID, OSCAR et ERN ERK-Net, CHU de Lyon, 69 500 Bron, France.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder linked to high levels of fibroblast growth factor 23 (FGF23), which may affect inflammation and bone cell activity, but hasn't been thoroughly studied in this context.
- A multicenter study analyzed the expression of eight inflammatory markers in blood samples from 28 XLH patients and 19 healthy controls, finding significantly increased inflammation in XLH patients along with impaired osteoclast formation.
- The findings suggest that the unique inflammatory profile in XLH patients may contribute to associated health issues like hypertension and obesity, indicating that inflammation might exacerbate these complications.
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Front Pediatr
August 2022
Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares, Filières de Santé Maladies Rares OSCAR, ORKID et ERKNet, Service de Néphrologie Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Bron, France.
Article Synopsis
- - The study analyzed the use of cinacalcet, a medication for primary hyperparathyroidism (PHPT), in 18 pediatric patients from seven French hospitals, highlighting its effectiveness in managing the condition despite some risks.
- - Results showed significant reductions in parathyroid hormone (PTH) and calcium levels over a follow-up of 2.2 years, with no major side effects reported, although one patient experienced kidney stones.
- - The findings suggest that cinacalcet can be a safe and effective treatment for hypercalcemia in pediatric patients with primary hyperparathyroidism.
Reloxaliase in Enteric Hyperoxaluria - The Recent Brake.
NEJM Evid
July 2022
Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, Lyon, France.
Article Synopsis
- Hyperoxaluria is when urinary oxalate excretion exceeds 0.5 mmol per day, and it can be classified into two types: primary and secondary.
- Primary hyperoxaluria arises from genetic factors, while secondary hyperoxaluria, also known as enteric hyperoxaluria, is related to dietary habits and malabsorption issues.
- Both primary and enteric hyperoxalurias can lead to serious health problems like kidney stones, crystal nephropathy, chronic kidney disease, and systemic oxalosis.
Inactivation of Osteoblast PKC Signaling Reduces Cortical Bone Mass and Density and Aggravates Renal Osteodystrophy in Mice with Chronic Kidney Disease on High Phosphate Diet.
Int J Mol Sci
June 2022
Center for Pediatric and Adolescent Medicine, Division of Pediatric Nephrology, University of Heidelberg, 69120 Heidelberg, Germany.
Article Synopsis
- - CKD often causes problems like high levels of phosphate and parathyroid hormone (PTH), leading to bone issues and increased heart disease risk; researchers studied the role of osteoblast-specific Gα signaling in this condition.
- - They created mice with a knockout (KO) of the Gα pathway and found that these mice had altered bone structure, with increased blood calcium levels but reduced bone density, particularly when on a high phosphate diet.
- - The study showed that disruption of the Gα signaling in osteoblasts affects calcium balance and worsens bone disease in CKD, highlighting its importance in bone health during high phosphate exposure.
Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.
Ann Endocrinol (Paris)
August 2022
Service de néphrologie et d'exploration fonctionnelle rénale, hôpital Édouard-Herriot, hospices civils de Lyon, Lyon, France; Université Lyon 1, Lyon, France; Centre de référence des maladies rares du calcium et du phosphore, Centre de référence des maladies rénales rares, filières de santé maladies rares OSCAR, ORKID et ERKNet, Lyon, France.
Article Synopsis
- - Parathyroid hormone (PTH) regulates calcium levels in the body by acting on the kidneys, bones, and intestines, with conditions like hyperparathyroidism characterized by elevated PTH and calcium levels, which can be primary (PHP), secondary (SHP), or tertiary (THP).
- - Primary hyperparathyroidism (PHP) causes high calcium levels and inappropriate PTH elevation, sometimes leading to issues like kidney stones and osteoporosis, but can also present as normal calcium levels, requiring calcium loading for diagnosis.
- - Secondary hyperparathyroidism (SHP) occurs in response to underlying conditions (like vitamin D deficiency or kidney failure), while tertiary hyperparathyroidism (THP) involves autonomous PTH
Copper Isotope Evidence of Oxidative Stress-Induced Hepatic Breakdown and the Transition to Hepatocellular Carcinoma.
Gastro Hep Adv
April 2022
Université de Lyon, ENSL, UCBL, CNRS, LGL-TPE, Lyon, France.
Article Synopsis
- Hepatocellular carcinoma (HCC) is a major global health concern and researchers are investigating copper isotope variations in serum as a potential biomarker for liver function and HCC prognosis.
- The study involved analyzing serum samples from 293 patients with liver issues and 105 controls, discovering that low copper isotope values correlate with severe liver damage and HCC positivity.
- The findings reveal a distinct bimodal distribution of copper isotopes that suggests a transition in liver tissue response to oxidative stress, highlighting existing challenges in identifying reliable biomarkers for early detection of HCC.
Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper.
Arch Pediatr
May 2022
AP-HP, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie et diabète de l'enfant, Filières Santé Maladies Rares OSCAR, ERN endoRARE et BOND, Plateforme d'expertise des maladies rares Paris Saclay, Hôpital Bicêtre Paris-Saclay, Université Paris Saclay, INSERM U1185, Le Kremlin Bicêtre, France.
Article Synopsis
- The study aims to provide guidance on calcium and vitamin D supplementation in newborns, infants, children, and adolescents to prevent deficiencies like rickets.
- The research utilized a PICO framework to form clinical questions, focusing on children aged 0-18 and hospitalized premature babies, with input from various pediatrics experts.
- The document outlines 35 clinical practice points for the use of vitamin D and dietary calcium, with plans for periodic revisions and suggestions for future research on vitamin D in children.*
Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.
Endocr Connect
January 2022
Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France.
Article Synopsis
- Recent guidelines have been established for managing patients with chronic hypoparathyroidism, but little is understood about how closely physicians follow these recommendations.
- A study involving 118 physicians and 107 patients in France aimed to assess the practice patterns of doctors and their compliance with international guidelines over several years.
- Results showed that while many physicians monitor calcium levels regularly and prescribe appropriate medications, only about one-third reported fully adhering to the established guidelines, indicating a need for broader inclusion of various medical specialties in future recommendations.
Tubular phosphate handling: references from child to adulthood in the era of standardized serum creatinine.
Nephrol Dial Transplant
October 2022
Centre de Référence des Maladies Rénales Rares, filière maladies rares ORKID and ERKNet, Hospices Civils de Lyon, Bron, France.
Background: The assessment of phosphate homeostasis in clinical practice relies not only on circulating phosphate levels but also on phosphate tubular reabsorption, ideally assessed using the tubular maximum phosphate reabsorption per glomerular filtration rate (TmP/GFR). TmP/GFR reference values were established before the onset of isotope-dilution mass spectrometry-standardized (IDMS) creatinine assays and thus need to be updated. Our objective is to provide reference values for TmP/GFR from childhood to adulthood, using the gold-standard of GFR assessment and IDMS-standardized creatinine values.
View Article and Find Full Text PDFIntermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience.
Front Pediatr
November 2021
Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares, Filières de Santé Maladies Rares OSCAR, ORKID et ERKNet, Service de Néphrologie Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Bron, France.
The use of teriparatide has been reported in children with hypoparathyroidism as an investigational physiologic replacement therapy. We aimed to retrospectively report our pediatric experience of bi-daily sub-cutaneous teriparatide. Results are presented as median (25th-75th quartile).
View Article and Find Full Text PDFA third of premature neonates displayed inadequate 25-hydroxyvitamin D levels before being discharged from a French neonatal intensive care unit.
Acta Paediatr
January 2022
Hospices Civils de Lyon, Departement of Neonatal Intensive Care Hôpital Femme Mère Enfant, Bron, France.
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.
Cells
September 2021
Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Filières de Santé Maladies Rares OSCAR, ORKID et ERK-Net, Hôpital Femme Mère Enfant, 69500 Bron, France.
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.
Local protocol helped to deliver vitamin D levels more accurately in preterm infants.
Acta Paediatr
January 2022
Service de Néphrologie Rhumatologie et Dermatologie Pédiatriques, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Bron, France.
Article Synopsis
- A study looked at how well a hospital in France helped preterm babies get enough vitamin D using a special plan that was changed in 2016.
- They checked vitamin D levels in 99 babies born before 31 weeks who were in the hospital in 2018, finding most had normal or high levels by the time they went home.
- Although the new plan worked better to prevent too little or too much vitamin D, some babies still had high vitamin D levels, so more research is needed to figure out the best amount for these infants.
Composition of urinary stones in children: clinical and metabolic determinants in a French tertiary care center.
Eur J Pediatr
December 2021
Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Boulevard Pinel, 69500, Bron Cedex, France.
Article Synopsis
- - The study analyzed the composition of kidney stones in children at a medical center in Lyon, focusing on samples collected from 2013 to 2017, involving a total of 111 pediatric patients with a median age of 7.5 years.
- - The findings indicated that calcium oxalate stones were the most common type, particularly in children older than 2, while infectious stones were more linked to children with underlying anatomical or metabolic issues.
- - Metabolic abnormalities, especially hypercalciuria, were observed in half of the tested patients, highlighting a potential connection between dietary habits, stone formation, and pre-existing medical conditions.