French national reference center for rare diseases of calcium and phosphate metabolism
The reference center for rare diseases of calcium and phosphate metabolism at Cochin hospital is a multidisciplinary center of specialists that includes rheumatologists, orthopedic surgeons, endocrinologists and thoracic surgeons (parathyroid). Collaboration with the biology pole is also essential. The constitutive center relies on a very active osteoarticular pole at the hospital and scientific level, , in particular because of the presence of the mixed research unit 1153, and the endocrinology and thoracic surgery service, specialized in parathyroid diseases.
This reference center is affiliated with the OSCAR rare diseases healthcare network and the European reference networks ERN BOND.
Keywords : X-linked hypophosphatemia, hyperphosphatemia, hypophosphatasia, hypercalcemia, hypothyroidism, pseudohypoparathyroidism, hypocalcemic rickets, primary hyperparathyroidism
Medical team
Pr Karine Briot
MD, PhD
Contact us
The missions of the center are :
- To provide transitional consultations and adult management of pediatric center patients in collaboration with the pediatric endocrinology service.
- To be a center of recourse and expertise for adult patients whose disease is no longer managed.
- To be a center of therapeutic innovation for adult diseases (e.g. anti-FGF23 antibodies).
- To develop clinical and translational research programs : genetics of genetic hyperparathyroidism, structural characterization of entheses in hyp mice.
- To develop therapeutic education programs for rare diseases associated with a disability or chronic disease treatment.
- The development of tele-expertise activities for patients with complex diseases of calcium and phosphate metabolism within the OSCAR network.
Hypercalcemia
Autosomal recessive infantile hypercalcemia
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
Sarcoidosis
A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.
Williams syndrome (microdeletion of the 7q11.23 region, infantile hypercalcemia)
Williams syndrome or Williams-Beuren syndrome is a rare genetic disorder characterized by a developmental abnormality that combines cardiac malformation (supravalvular aortic stenosis -SVAS- in most cases) in 75% of cases, psychomotor retardation, suggestive facial dysmorphia and a specific cognitive and behavioral profile.
Hypophosphatasia
Hypophosphatasia is a rare inherited disease characterized by a deficit in bone and dental mineralization and a deficit in serum alkaline phosphatase activity.
Perinatal lethal hypophosphatasia
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Prenatal benign hypophosphatasia
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
Infantile hypophosphatasia
A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
Childhood-onset hypophosphatasia
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
Adult hypophosphatasia
A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.
Odontohypophosphatasia
A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.
Primary hyperparathyroidism
Familial parathyroid adenoma
Hyperparathyroidism-jaw tumor syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 (MEN1) is a common form of MEN, a rare inherited cancer syndrome characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less frequently the adrenal cortex, with other non-endocrine tumors in some patients.
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 (MEN2) is a multiglandular neoplastic syndrome characterized by the occurrence of medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and, in one variant, primary hyperparathyroidism (PHP).
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Neonatal severe primary hyperparathyroidism
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
Hypoparathyroidism
Autosomal dominant hypocalcemia-hypercalciuria
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.
Familial isolated hypoparathyroidism due to impaired PTH secretion
Isolated familial hypoparathyroidism is a rare and heterogeneous group of disorders of phosphocalcium metabolism related to a lack of parathyroid hormone (PTH) secretion, without other associated endocrine deficits or malformations.
Autoimmune polyendocrinopathy type 1
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.or malformations.
Autoimmune hypoparathyroidism
A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.
22q11.2 deletion syndrome
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Kearns-Sayre syndrome
A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
Sanjad-Sakati syndrome
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism – intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.d heart block.
Bartter syndrome with hypocalcemia
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Hypoparathyroidism-sensorineural deafness-renal (HDR) disease syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) (HDR syndrome).
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright’s hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
Progressive osseous heteroplasia
Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
Acrodysostosis
An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Pseudohypoparathyroidism type 2
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright’s hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.
Hyperphosphatemia
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
Hypocalcemic rickets
Hypocalcemic vitamin D-resistant rickets (HVDRR)
Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.
Hypocalcemic vitamin D-dependent rickets (VDDR-I)
Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
Hypophosphatemia
X-linked hypophosphatemia
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
Autosomal recessive hypophosphatemic rickets
A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Linear nevus sebaceus syndrome
A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.
Oncogenic osteomalacia
A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.
Cystinosis
A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
DeToni-Debré-Fanconi syndrome / Primary Fanconi renotubular syndrome
A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.
Oculocerebrorenal syndrome of Lowe
A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Dent disease
Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
- Pr Karine Briot – Rheumatologist, head of the reference center
- Pr Christian Roux – Rheumatologist
- Dr Eugénie Koumakis – Rheumatologist
- Dr Frédéric Sailhan – Orthopedic surgeon
- Pr Lionel Groussin – Endocrinologist
- Dr Léopoldine Bricaire-Dubreuil – Endocrinologist
- Pr Jérôme Bertherat – Endocrinologist
- Sibi Atayi – Medical secretary
- Mioranirainy Deraharijaona – Clinical research associate
- PNDS Hypoparathyroidism (2017)
- PNDS Inherited hypophosphatemia with elevated FGF23 (including x-linked hypophosphatemia) (2018)
- PNDS Secondary bone fragilities in children (2019)
- PNDS Hypophosphatasia (ongoing)
NON-INDUSTRIAL RESEARCH
- Follow-up cohort of patients with XLH and progression to menopause
- Analysis of enthesopathies on x-rays of patients with XLH
- Study of the mechanisms of appearance of ossifications of enthesopathies in HYp mice
- Epidemiology of hypoparathyroidism in France (EPI-HYPO)
- Severity score of patients with XLH
- Study of the phenotype of patients with primary hyperparathyroidism who failed surgery
- Assessment of the benefit of personalized rehabilitation in patients with XLH
- Genetic hypercalcemia (description)
- Study of the rheumatological profile of hypophosphatasias in adults
INDUSTRIAL RESEARCH
- Double-blind, randomized, placebo-controlled phase 3 study to evaluate the efficacy and safety of KRN 23 in adults with X-linked hypophosphatemia (Ultragenyx Laboratory) extension period (Finalized)
- Adult hypophosphatasia patient follow-up register (Alexion Laboratory) (In progress)
- Follow-up registry for patients with X-linked hypophosphatemia (Kyowa Kirin Laboratory) (Ongoing)
COHORTS
- Adult hypophosphatasia patient follow-up register – 24 patients included
- Follow-up register for patients with X-linked hypophosphatemia – 19 patients included
2021
– Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia.
Axelle Cauliez, Volha V Zhukouskaya, Stéphane Hilliquin, Jérémy Sadoine, Lotfi Slimani, Corinne Miceli-Richard, Karine Briot, Agnès Linglart, Catherine Chaussain, Claire Bardet
Front Cell Dev Biol, 2021 Feb 18, PMID: 33681179 PMCID: PMC7930336 DOI: 10.3389/fcell.2020.591417
– Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension.
Karine Briot, Anthony A Portale, Maria Luisa Brandi, Thomas O Carpenter, Hae Ii Cheong, Martine Cohen-Solal, Rachel K Crowley, Richard Eastell, Yasuo Imanishi, Steven Ing, Karl Insogna, Nobuaki Ito et al.
RMD Open, 2021 Sep, PMID: 34548383 PMCID: PMC8458321 DOI: 10.1136/rmdopen-2021-001714
– Rapid control of severe ectopic Cushing »s syndrome by oral osilodrostat monotherapy.
Laura Bessiène, Fidéline Bonnet, Florence Tenenbaum, Mathieu Jozwiak, Anthony Corchia, Jérôme Bertherat, Lionel Groussin
Eur J Endocrinol, 2021 May, PMID: 33667191 DOI: 10.1530/EJE-21-0147
– Authors » Reply: 18F-fluorocholine PET/CT in MEN1 Patients with Primary Hyperparathyroidism.
Sébastien Gaujoux, Mathieu Gauthé, Lionel Groussin
World J Surg, 2021 Apr, PMID: 33386454 DOI: 10.1007/s00268-020-05896-2
– Absence of relationships between depression and anxiety and bone mineral density in patients hospitalized for severe anorexia nervosa.
J Herrou, N Godart, A Etcheto, S Kolta, N Barthe, A Y Maugars, T Thomas, C Roux, K Briot
Eat Weight Disord, 2021 Aug, PMID: 33085062 DOI: 10.1007/s40519-020-01045-9
– Changes in bone formation regulator biomarkers in early axial spondyloarthritis.
Elise Descamps, Anna Molto, Didier Borderie, Rik Lories, Corinne Miceli Richard, Marion Pons, Christian Roux, Karine Briot
Rheumatology (Oxford), 2021 Mar 2, PMID: 32888036 DOI: 10.1093/rheumatology/keaa296
– The Causes of Hypo- and Hyperphosphatemia in Humans.
Eugénie Koumakis, Catherine Cormier, Christian Roux, Karine Briot
Calcif Tissue Int, 2021 Jan, PMID: 32285168 DOI: 10.1007/s00223-020-00664-9
– Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia.
Axelle Salcion, Julia Herrou, Karine Briot
Arch Pediatr, 2021 Oct, PMID: 34625379 DOI: 10.1016/j.arcped.2021.09.004
– X-linked hypophosphatemia, a genetic and treatable cause of rickets!
Agnès Linglart, Karine Briot
Arch Pediatr, 2021 Oct, PMID: 34583870 DOI: 10.1016/j.arcped.2021.08.008
– X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience.
Justine Bacchetta, Anya Rothenbuhler, Iva Gueorguieva, Peter Kamenicky, Jean-Pierre Salles, Karine Briot, Agnès Linglart
Joint Bone Spine, 2021 Oct, PMID: 34102329 DOI: 10.1016/j.jbspin.2021.105208
– Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemia.
Volha V Zhukouskaya, Inès Mannes, Catherine Chaussain, Peter Kamenický, Christelle Audrain, Anne-Sophie Lambert, Jérôme Nevoux, Philippe Wicart, Karine Briot et al.
Eur J Endocrinol, 2021 Aug 27, PMID: 34292170 DOI: 10.1530/EJE-21-0429
2020
– Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P.
J Bone Miner Res, 2020 Jul, PMID: 32101626 DOI: 10.1002/jbmr.3992
– Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia.
Faraji-Bellée CA, Cauliez A, Salmon B, Fogel O, Zhukouskaya V, Benoit A, Schinke T, Roux C, Linglart A, Miceli-Richard C, Chaussain C, Briot K, Bardet C.
Front Cell Dev Biol, 2020 Sep 22, PMID: 33072734 PMCID: PMC7536578 DOI: 10.3389/fcell.2020.00854
– Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns.
Goujard C, Salenave S, Briot K, Chanson P, Grimon G, Kamenický P.
Lancet. 2020 Apr 18, PMID: 32305095 DOI: 10.1016/S0140-6736(20)30538-9
– Handgrip strength is a comorbidity marker in systemic necrotizing vasculitides and predicts the risk of fracture and serious adverse events.
Henriquez S, Dunogué B, Porcher R, Régent A, Cohen P, Berezne A, Kolta S, Le Jeunne C, Mouthon L, Roux C, Guillevin L, Briot K, Terrier B; French Vasculitis Study Group (FVSG).
Rheumatology (Oxford), 2020 Sep 1, PMID: 32449923 DOI: 10.1093/rheumatology/kez680
– The Causes of Hypo- and Hyperphosphatemia in Humans.
Koumakis E, Cormier C, Roux C, Briot K.
Calcif Tissue Int, 2021 Jan, PMID: 32285168 DOI: 10.1007/s00223-020-00664-9
– 18 F-fluorocholine PET/CT in MEN1 Patients with Primary Hyperparathyroidism.
Mathieu Gauthé, Anne Dierick-Gallet, Thierry Delbot, Léopoldine Bricaire, Jérôme Bertherat, Marie-Odile North, Beatrix Cochand-Priollet, Phillipe Bouchard, Jean-Noël Talbot, Lionel Groussin, Sébastien Gaujoux
World J Surg, 2020 Nov, PMID: 32681321 DOI: 10.1007/s00268-020-05695-9
– Vitamin D Supplementation in France in patients with or at risk for osteoporosis: Recent data and new practices.
Jean-Claude Souberbielle, Catherine Cormier, Etienne Cavalier, Véronique Breuil, Françoise Debiais, Patrice Fardellone, Pascal Guggenbuhl, Rose-Marie Javier, Erick Legrand, Eric Lespessailles, Julien Paccou, Thierry Thomas, Bernard Cortet, au nom du Groupe de recherche et d’information sur les ostéoporoses, (GRIO)
Joint Bone Spine, 2020 Jan, PMID: 31051244 DOI: 10.1016/j.jbspin.2019.04.004
– Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
M L Bianchi, N J Bishop, N Guañabens, C Hofmann, F Jakob, C Roux, M C Zillikens, Rare Bone Disease Action Group of the European Calcified Tissue Society
Osteoporos Int, 2020 Aug, PMID: 32162014 DOI: 10.1007/s00198-020-05345-9
– Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier-Daire
J Bone Miner Res, 2020 Aug, PMID: 32181939 DOI: 10.1002/jbmr.4011
– Vitamin D deficiency and the COVID-19 pandemic.
Patrick Zemb, Peter Bergman, Carlos A Camargo Jr, Etienne Cavalier, Catherine Cormier, Marie Courbebaisse, Bruce Hollis, Fabrice Joulia, Salvatore Minisola, Stefan Pilz, Pawel Pludowski, François Schmitt, Mihnea Zdrenghea, Jean-Claude Souberbielle
J Glob Antimicrob Resist, 2020 Sep, PMID: 32474141 PMCID: PMC7256612 DOI: 10.1016/j.jgar.2020.05.006
– Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, S Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M Elli, Aurora Garcia Ramirez, Emily L Germain-Lee, Lionel Groussin, Neveen A T Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Elvire Le Norcy, Beatriz Lecumberri, Michael A Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Manasori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebeca Rodado, Anya Rothenbuhler, Vrinda Saraff , Ashley H Shoemaker, Eileen M Shore, Caroline Silve, Serap Turan, Philip Woods, M Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart
Horm Res Paediatr, 2020, PMID: 32756064 PMCID: PMC8140671 DOI: 10.1159/000508985
– Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia.
Carole-Anne Faraji-Bellée, Axelle Cauliez, Benjamin Salmon, Olivier Fogel, Volha Zhukouskaya, Aurélie Benoit, Thorsten Schinke, Christian Roux, Agnès Linglart, Corinne Miceli-Richard, Catherine Chaussain, Karine Briot, Claire Bardet
Front Cell Dev Biol, 2020 Sep 22, PMID: 33072734 PMCID: PMC7536578 DOI: 10.3389/fcell.2020.00854
– An Ectopic Parathyroid Adenoma Mimicking a Carotid Body Paraganglioma.
Rossella Libé, Julien Calvani, Anne-Ségolène Cottereau, Tatiana Lecot Connan, Sebastien Gaujoux, Lionel Groussin, Myriam Wartski
J Endocr Soc, 2020 Nov 20, PMID: 33244507 PMCID: PMC7677933 DOI: 10.1210/jendso/bvaa143
2019
– Abdominal adipose tissue predicts major cardiovascular events in systemic necrotising vasculitides.
Briot, K ; Dunogué, B ; Henriquez, S ; Etcheto, A ; Kolta, S ; Régent, A & al
Clin Exp Rheumatol, Mar-Apr 2019, PMID: 31162033
– Genetic hypercalcemia.
Cormier, C
Joint Bone Spine, 2019 Jul, PMID: 30300686 DOI: 10.1016/j.jbspin.2018.10.001
– McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation – a case report.
Gaujoux, S ; Pasmant, E ; Silve, C ; Mehsen-Cetre, N ; Coriat, R ; Rouquette, A & al
Medicine (Baltimore), 2019 Dec, PMID: 31852070 PMCID: PMC6922479 DOI: 10.1097/MD.0000000000018102
– A Hungry Bone Syndrome Predicted by 18F-Fluorocholine PET/CT.
Paepegaey, AC ; Velayoudom, FL ; Housni, S ; Gauthé, M ; Groussin, L
Clin Nucl Med, 2019 Nov, PMID: 31274564 DOI: 10.1097/RLU.0000000000002676
– Hyperphosphatemic familial tumoral calcinosis with galnt3 mutation: transient response to anti-interleukin-1 treatments.
Dauchez, A ; Souffir, C ; Quartier, P ; Baujat, G ; Briot, K ; Roux, C
JBMR Plus , 2019 Mar 6, PMID: 31372591 PMCID: PMC6659445 DOI: 10.1002/jbm4.10185
– Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner, D ; Emma, F ; Eastwood, DM ; Duplan, MB ; Bacchetta, J ; Schnabel, D & al
Nat Rev Nephrol, 2019 Jul, PMID: 31068690 PMCID: PMC7136170 DOI: 10.1038/s41581-019-0152-5
– Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.
Portale, AA ; Carpenter, TO ; Brandi, ML ; Briot, K ; Cheong, HI ; Cohen-Solal, M & al
Calcif Tissue Int, 2019 Sep, PMID: 31165191 DOI: 10.1007/s00223-019-00568-3
– High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux, M ; Ashton, E ; Dahan, K ; Houillier, P ; Blanchard, A ; Cormier, C & al
Kidney Int, 2019 Dec, PMID: 31672324 DOI: 10.1016/j.kint.2019.08.027
– Pre-, post- or no acidification of urine samples for calcium analysis: does it matter?
Chenevier-Gobeaux, C ; Rogier, M ; Dridi-Brahimi, I ; Koumakis, E ; Cormier, C ; Borderie, D
Clin Chem Lab Med, 2019 Dec 18, PMID: 31539348 DOI: 10.1515/cclm-2019-0606
– 18F-Fluorocholine PET/CT Imaging of Brown Tumors in a Patient With Severe Primary Hyperparathyroidism.
Zhang-Yin, J ; Gaujoux, S ; Delbot, T ; Gauthé, M ; Talbot, JN
Clin Nucl Med, 2019 Dec, PMID: 31652163 DOI: 10.1097/RLU.0000000000002814
- The rheumatologist and endocrinologist point of view of the management of XLH (Berlin Dr Briot, médical)
- Prise en charge médicochirurgicale adulte à la transition des patients atteints de XLH (Paris, Dr Briot, médical et paramédical)
- Inflammation, cytokines, anti-cytokines et tissu osseux Journée scientifique du GRIO (Paris, Pr C. Roux, médical)
- Hypophosphatasie et antalgie (Kremlin Bicêtre, Dr Briot, Médical, paramédical et patients)
- Conséquences osseuses et musculaires du XLH (Kremlin Bicêtre, Dr Briot, Médical, paramédical et patients)
Recognize the XLH
Podcast RARE à l’écoute | 01.18.2021
What is the clinical profile of adult patients with X-linked or XLH hypophosphatemia? What are the warning signs? When and how to take care of adult patients? Is regular monitoring necessary? Pr Karine Briot, rheumatologist in the rheumatology department of Cochin hospital in Paris, and coordinator, for the adult part, of the national reference center for rare diseases of calcium and phosphate metabolism, answers your questions.
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- Pathophysiology and diagnosis of vitamin-resistant rickets/osteomalacia – Pr Karine Briot – Revue du rhumatisme monographies, Rare bone diseases – first part (2019)
- Hypophosphatasia webinar on April 15, 2021
Responsible : Pr Karine Briot
Location : Cochin hospital
Contact information
At Cochin hospital, the reference center for rare diseases of calcium and phosphate metabolism in brief …
* data valid for 2022