6,963 results match your criteria Hypophosphatemia

Severe and refractory hypocalcaemia secondary to osteoblastic bone metastases in bladder signet ring carcinoma: A case report and literature review.

Medicine (Baltimore) 2022 Jul 1;101(26):e29731. Epub 2022 Jul 1.

Department of Endocrinology, Singapore General Hospital, Singapore.

Rationale: Symptomatic hypocalcaemia is uncommon, occurring in <2% of patients with malignancy. Osteoblastic bone metastasis as a cause of hypocalcaemia is rare and not reported in bladder cancer.

Patient Concerns: We report a case of refractory hypocalcaemia in a patient with bladder cancer with extensive osteoblastic bone metastases. Read More

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Bone matrix mineralization and response to burosumab in adult patients with X -linked hypophosphatemia: Results from the phase 3, single-arm international trial.

J Bone Miner Res 2022 Jul 1. Epub 2022 Jul 1.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, Trauma Centre Meidling, 1st Med. Department Hanusch Hospital, Vienna, Austria.

X-linked hypophosphatemia (XLH) is characterized by excess FGF23 secretion, renal phosphate wasting and low 1,25(OH)₂D₃. Adult patients present with osteomalacia, hypomineralized periosteocytic lesions, bone fragility and pain. Burosumab is a fully human monoclonal FGF23 antibody approved for XLH treatment. Read More

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Bone Volumetric Density, Microarchitecture, and Estimated Bone Strength in Tumor-Induced Rickets/Osteomalacia X-linked Hypophosphatemia in Chinese Adolescents.

Front Endocrinol (Lausanne) 2022 13;13:883981. Epub 2022 Jun 13.

Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China.

Tumor-induced rickets/osteomalacia (TIR/O) severely impairs bone microarchitecture and bone strength. However, no study has described the microarchitectural quality of bone in adolescent patients with TIR/O. TIR/O affects bone quality more severely than the inherited causes of hypophosphatemia, the most common form of which is X-linked hypophosphatemia (XLH). Read More

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Intravenous iron isomaltoside (Monofer)-induced hypophosphataemia: a case report.

Hong Kong Med J 2022 Jun;28(3):267-269

Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong.

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Metabolic profiling in periparturient dairy cows and its relation with metabolic diseases.

BMC Res Notes 2022 Jun 28;15(1):231. Epub 2022 Jun 28.

Population Medicine and AMR Laboratory, Department of Medicine, Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, 2202, Bangladesh.

Objective: Periparturient period is associated with multiple changes including serum concentration of macro minerals and drop in feed intake. Therefore, it is essential to know the actual concentrations of major macro minerals, glucose and ketone bodies in blood during the periparturient period. The objectives of the study were to study the dynamics of calcium, magnesium, phosphorus, and glucose in serum and ketone bodies in the urine of periparturient cows and to estimate the incidence of subclinical metabolic diseases. Read More

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Valproic acid as an adjuvant analgesic: adult Fanconi syndrome.

BMJ Support Palliat Care 2022 Jun 28. Epub 2022 Jun 28.

Geisinger Medical Center, Danville, Pennsylvania, USA.

We report an 80-year-old woman who developed severe hypophosphataemia and elevated urinary phosphate levels while started on valproic acid. This occurred within 1-2 days of starting valproic acid. There are rare single-patient reports of the association of valproic acid with adult Fanconi syndrome. Read More

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X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.

Pediatr Nephrol 2022 Jun 27. Epub 2022 Jun 27.

Centre de Référence Des Maladies Rares du Calcium Et du Phosphate, Centre de Référence Des Maladies Rénales Rares, Filières Maladies Rares OSCAR, ORKID Et ERK-Net, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, 69500, France.

Background: The underlying mechanisms of obesity in X-linked hypophosphatemia (XLH) are not known. We aimed to evaluate whether FGF21, an endocrine FGF involved in the regulation of carbohydrate-lipid metabolism, could be involved.

Methods: We performed a prospective multicenter cross-sectional study comparing FGF23, Klotho, and FGF21 levels in teenagers with XLH compared to healthy controls (VITADOS cohort) after matching for age, gender, and puberty. Read More

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A Case Report of Hypophosphatemia Leading to the Diagnosis of Mesothelioma.

Cureus 2022 May 24;14(5):e25285. Epub 2022 May 24.

Diabetes and Endocrinology, Royal United Hospital, Bath, GBR.

Hypophosphatemia can be commonly encountered as an electrolyte imbalance and is defined as a value less than 0.8 mmol/l (2.5 mg/dl). Read More

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Fanconi syndrome in an elderly patient with membranous nephropathy during treatment with the immunosuppressant mizoribine.

CEN Case Rep 2022 Jun 24. Epub 2022 Jun 24.

Department of Nephrology, Faculty of Medical Sciences, University of Fukui, 23-3 Shimoaizuki, Matsuoka, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan.

We report on an 80-year-old man diagnosed with Fanconi syndrome induced by mizoribine after 4 weeks of administration to treat membranous nephropathy. Mizoribine is an oral immunosuppressant that inhibits inosine monophosphate dehydrogenase and is widely used in Japan for the treatment of autoimmune diseases and nephrotic syndrome, as well as after renal transplantation. Acquired Fanconi syndrome is often caused by drugs (antibacterial, antiviral, anticancer, and anticonvulsant drugs) and is sometimes caused by autoimmune diseases, monoclonal light chain-associated diseases, or heavy metal poisoning. Read More

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Cisplatin-induced nephrotoxicity in childhood cancer: comparison between two countries.

Pediatr Nephrol 2022 Jun 24. Epub 2022 Jun 24.

BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Background: Various definitions used to describe cisplatin nephrotoxicity potentially lead to differences in determination of risk factors. This study evaluated incidence of kidney injury according to commonly used and alternative definitions in two cohorts of children who received cisplatin.

Methods: This retrospective cohort study included children from Vancouver, Canada (one center), and Mexico City, Mexico (two centers), treated with cisplatin for a variety of solid tumors. Read More

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Genetic and clinical profile of patients with hypophosphatemic rickets.

Eur J Med Genet 2022 Jun 21;65(8):104540. Epub 2022 Jun 21.

Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Electronic address:

Nutritional vitamin D deficiency is the most frequent cause of rickets followed by genetic causes, that include entities like classic hypophosphatemic rickets (FGF23 related), Dent disease, Fanconi syndrome, renal tubular acidosis, and vitamin D dependent rickets. Hypophosphatemia is a feature in all these forms. The diagnosis relies on a combination of clinical, biochemical and radiological features, but genetic testing is required to confirm the diagnosis. Read More

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Switching to tenofovir alafenamide for nucleos(t)ide analogue-experienced patients with chronic hepatitis B: Week 144 results from a real-world, multicentre cohort study.

Aliment Pharmacol Ther 2022 Jun 23. Epub 2022 Jun 23.

Kyushu University, Fukuoka, Japan.

Background: Tenofovir alafenamide (TAF) may be preferable to other nucleos(t)ide analogues (NA) regarding outcomes against chronic hepatitis B virus (HBV) infection.

Aims: To evaluate the longer term virological/biochemical effectiveness of TAF and the renal safety of sequential therapy to TAF in real-world settings METHODS: This multicentre, retrospective cohort study included consecutive adult patients who switched from other NAs to TAF. We assessed the virological and biochemical responses up to 144 weeks. Read More

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Corrective osteotomy for complex tibial deformity in a patient with hereditary vitamin D-resistant hypophosphatemic rickets (HVDRR) using CT-based navigation system and 3D printed osteotomy model.

Comput Assist Surg (Abingdon) 2022 Dec;27(1):84-90

Department of Orthopedic Surgery, Yokohama City University, Yokohama, Japan.

Planning a three-dimensional (3D) osteotomy using computed tomography (CT) data is useful especially in cases with complex deformities. Furthermore, CT-based navigation system allows the preoperative virtual planning to be replicated in actual surgery. However, one disadvantage when using navigation systems is that when osteotomies are performed on tracker-attached bone, the bone fragments on the side that were cut away cannot be tracked. Read More

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December 2022

Higher parenteral electrolyte intakes in preterm infants during first week of life: Effects on electrolyte imbalances.

J Pediatr Gastroenterol Nutr 2022 Jun 20. Epub 2022 Jun 20.

Department of Clinical Sciences, Pediatrics, Umeå University, SE-901 85 Umeå, Sweden.

Objectives: This study aimed to investigate the effects of a higher intake of electrolytes from parenteral nutrition (PN) on plasma electrolyte concentrations in very low birth weight (VLBW, <1500 g) infants.

Methods: This was a single-centre cohort study including all VLBW infants born before (n=81) and after (n=53) the implementation of a concentrated PN regimen. Daily nutritional intakes and plasma concentrations of sodium, chloride, potassium, phosphate, and calcium were collected from clinical charts. Read More

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Osmotic demyelination syndrome: novel risk factors and proposed pathophysiology.

Intern Med J 2022 Jun 19. Epub 2022 Jun 19.

Neurological Intervention & Imaging Service of WA (NIISwa), Royal Perth and Sir Charles Gairdner Hospitals, Perth, Western Australia.

Background: Osmotic demyelination syndrome (ODS) is non inflammatory demyelination in response to an osmotic challenge. It can be pontine or extrapontine in presentation AIM: Retrospective review of cases involving ODS and define the spectrum of causes, risk factors, clinical and radiological presentations, and functional outcomes.

Results: The study utilized data from 15 patients with a mean age of 53. Read More

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Electrolyte Abnormalities Associated With the Use of Atezolizumab - A Systematic Review.

J Community Hosp Intern Med Perspect 2022 12;12(2):35-44. Epub 2022 Apr 12.

Department of Internal Medicine, McLaren Flint Michigan State University, Flint, MI, USA.

Background And Objectives: In recent years, immune-checkpoint inhibitors (ICIs) particularly atezolizumab is on the rise in treating advanced malignancies. With its increased clinical use, various electrolyte abnormalities have been reported in the literature. In this review, we have addressed the question of significant electrolyte abnormalities associated with atezolizumab. Read More

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Total hip arthroplasty for treatment of femoral neck fracture due to hypophosphatemic osteomalacia: a retrospective case series with mean follow-up of five years.

Int Orthop 2022 Jun 14. Epub 2022 Jun 14.

Department of Orthopaedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Background: To retrospectively characterize the clinical characteristics and efficacy of total hip arthroplasty and the important factors needing attention in hypophosphatemic osteomalacia (HO) patients with hip involvement.

Patients And Methods: We performed a review of seven patients (two women and five men) referred to our clinic with a final diagnosis of HO who received total hip arthroplasty between 2010 and 2018. Five patients (Group 1) received proper medical management with or without aetiologic therapy, while the other two patients (Group 2) did not receive due to misdiagnosis. Read More

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Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets.

J Pediatr Endocrinol Metab 2022 Jun 14. Epub 2022 Jun 14.

Department of Orthopaedics, Interdisciplinary Orthopedics, Aalborg University Hospital, Hobrovej 18-22, 9000 Aalborg, Nordjylland, Denmark.

Objectives: XLHR in children with a Rickets Severity Score ≥2 can now be treated with the new antibody drug, Burosumab, which prevents bone deformities and increases gait endurance. This study illustrates the extent of complications in the traditional orthopedic treatment of XLHR. The impact of surgery and severity of complications in this patient population has not been systematically assessed before. Read More

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Unusual Presentation and Surgical Treatment of a Phosphaturic Mesenchymal Tumor in a Knee.

Front Surg 2022 25;9:746623. Epub 2022 May 25.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

A 30-year-old woman presented to our hospital with an 11-year history of gradually enlarging masses around the left knee and 2-year history of progressively worsening bone pain. Tumor-induced osteomalacia (TIO), a rare paraneoplastic syndrome caused by phosphaturic mesenchymal tumors (PMTs) was suspected, but the postoperative pathology of her two operations was both reported as tenosynovial giant cell tumor (TGCT), making its diagnosis confusing. The possibility of hypophosphatemia, insufficient blood supply, innervation of the left lower limbs, as well as the unclear pathology, make it unreasonable to perform tumor-type knee prosthesis replacement directly. Read More

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Clinical Challenges in Diagnosis, Tumor Localization and Treatment of Tumor-Induced Osteomalacia: Outcome of a Retrospective Surveillance.

J Bone Miner Res 2022 Jun 11. Epub 2022 Jun 11.

Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.

Tumor-induced osteomalacia (TIO) is an acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemic osteomalacia caused by phosphaturic mesenchymal tumors (PMTs) developed in the bone or soft tissue. Diagnostic delay should be addressed, and ideal techniques to localize PMTs and efficient treatment options should be explored to improve the outcomes of this rare disease. To clarify the detailed clinical course and outcomes of TIO patients, retrospective questionnaire surveys were conducted among physicians from the Japanese Society for Bone and Mineral Research (JSBMR) and the Japan Endocrine Society (JES). Read More

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Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH).

J Bone Miner Res 2022 Jun 11. Epub 2022 Jun 11.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers. Read More

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Growth hormone therapy in HHRH.

Bone Rep 2022 Jun 18;16:101591. Epub 2022 May 18.

Departments of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.

Background: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) ( gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. Phosphate supplementation rarely improves serum phosphate, hypercalciuria, nephrocalcinosis, 1,25(OH) vitamin D (1,25(OH)D) levels or short stature.

Methods: We describe Na MRI and the successful use of recombinant human growth hormone (rhGH) and Fluconazole to improve growth (possibly confounded by puberty) and hypercalciuria in a now 12-year-old male with HHRH (novel homozygous mutation, c. Read More

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Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.

Front Endocrinol (Lausanne) 2022 18;13:862022. Epub 2022 May 18.

Radiology Division, King Abdulaziz Specialist Hospital, Taif, Saudi Arabia.

Background: Vitamin D-dependent rickets type 1A (VDDR1A) rickets is an uncommon kind of rickets that affects both boys and girls. Children with mutations are normal at birth and present at around 6 months to 2 years of age with symptoms. When suspected, genetic testing is required to confirm the diagnosis. Read More

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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.

Cell Death Dis 2022 Jun 2;13(6):518. Epub 2022 Jun 2.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.

X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and impaired bone mineralization. Read More

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A literature review to understand the burden of disease in people living with tumour-induced osteomalacia.

Osteoporos Int 2022 May 28. Epub 2022 May 28.

Kyowa Kirin International, Marlow, United Kingdom.

This study reviews publications to describe the signs, symptoms and impact of tumour-induced osteomalacia (TIO) on patients' burden of disease. TIO is associated with a spectrum of signs and symptoms imposing a significant clinical burden, but the psychosocial impact of this rare disease has been poorly researched so far.

Introduction: To describe the signs, symptoms and impacts of tumour-induced osteomalacia (TIO) and summarise the state of research on the burden of disease of this ultra-rare condition. Read More

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Targeting the underlying pathophysiology in X-linked hypophosphatemic rickets in adults.

ARP Rheumatol 2022 Jan-Mar;1(1):83-86

Reumatologia, Centro Hospitalar e Universitário de Coimbra.

X-linked hypophosphatemic rickets (XLHR) is a life-long phosphate waste disorder that presents in early childhood with lower limb deformities, stunted growth, and bone and joint pain. In adults, osteomalacia and fractures may develop, aggravating bone and joint pain, stiffness, and disability. A 50-year-old woman with XLHR was referred to Rheumatology for incapacitating pain in her left lower limb with gait impairment. Read More

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The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice.

Calcif Tissue Int 2022 May 26. Epub 2022 May 26.

Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, 06510, USA.

A major comorbidity of X-linked hypophosphatemia (XLH) is fibrocartilaginous tendinous insertion site mineralization resulting in painful enthesophytes that contribute to the adult clinical picture and significantly impact physical function. Enthesophytes in Hyp mice, a murine model of XLH are the result of a hyperplastic expansion of resident alkaline phosphatase, Sox9-positive mineralizing fibrochondrocytes. Here, we hypothesized hyperplasia as a compensatory physical adaptation to aberrant mechanical stresses at the level of the entheses interface inserting into pathologically soft bone. Read More

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Analysis of transition from intravenous iron sucrose to ferric carboxymaltose infusions in pediatric patients with intestinal failure.

JPEN J Parenter Enteral Nutr 2022 May 26. Epub 2022 May 26.

Division of Pediatric Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, Washington, USA.

Background: Iron supplementation is required for pediatric patients with intestinal failure (IF). There is a paucity of literature on optimal iron formulation and outcomes in this patient population that requires ongoing supplementation. The aim of this study was to assess outcomes in pediatric patients with IF receiving iron sucrose (IS) vs ferric carboxymaltose (FCM) iron infusions. Read More

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A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.

Front Endocrinol (Lausanne) 2022 6;13:866831. Epub 2022 May 6.

Department of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, Germany.

Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. Read More

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