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Phosphaturic Mesenchymal Tumor of Soft Tissue of the Foot: Report of a Case With Review of the Literature.
Bisceglia, M, Galliani, CA, Fraternali Orcioni, G, Perrone, E, Del Giudice, A, Scillitani, A
Advances in anatomic pathology. 2019;(5):320-328
Abstract
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone. Acral locations occur in 10% to 15% of the cases, mostly in the feet, with 95 cases reported in this anatomic region to date. We report a case of a PMT in a young adult male who presented in 2007 with the classic constellation of signs and symptoms. A small soft-tissue tumor was detected in his right heel, 3 years after exhaustively seeking for it by various imaging techniques performed at different institutions. Before the tumor was detected, attempts to manage this patient's osteomalacia with phosphate and vitamin D (both calcitriol and ergocalciferol) supplementation were unsuccessful. Following surgical resection, the patient experienced prompt correction of the phosphaturia and gradual reconstitution of his bone mineralization. The pathologic diagnosis was (benign) PMT, mixed connective tissue type. In 2019, 12 years after resection, the patient is asymptomatic, and his bone mineral homeostasis has been restored.
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Phosphate binders as a cause of hypothyroidism in dialysis patients: practical indications from a review of the literature.
Cataldo, E, Columbano, V, Nielsen, L, Gendrot, L, Covella, B, Piccoli, GB
BMC nephrology. 2018;(1):155
Abstract
BACKGROUND Although fatigue is common in dialysis patients, polypharmacy is seldom listed among its causes. In this report, we describe a dialysis patient who developed severe fatigue due to pharmacological interaction between two commonly prescribed drugs, phosphate binders and levothyroxine. CASE PRESENTATION A 65-year old woman, on dialysis for 17 years, complained of fatigue (weight 54 Kg, height 1.55 m, BMI: 23 Kg/m2; malnutrition inflammation index: 10; Charlson index 9). She had been treated with lithium for about 20 years. A heavy smoker, she was obese and diabetic when young, but stopped treatment after weight loss. She had undergone thyroidectomy for papillary carcinoma, left hemicolectomy for colon adenocarcinoma, left quadrantectomy followed by radiotherapy for ductal mammary adenocarcinoma, subtotal parathyroidectomy for tertiary hyperparathyroidism. At the time of this report, she was on thrice-weekly hemodiafiltration (Daugirdas 2 Kt/V: 1.6-1.8). Her recent treatment included spironolactone, amlodipine, perindopril, valproate, lamotrigine, levothyroxine, vitamin D, calcium carbonate, sodium polystyrene and sevelamer. After she questioned her doctor about whether her fatigue might be the result of a drug interaction, levothyroxine interference was identified (TSH, previously normal, increased to 13.07 mU/L, after increasing sevelamer dose, and normalized after change of drug schedule). LITERATURE REVIEW only 5 relevant papers on levothyroxine and phosphate binders on dialysis were found on Pubmed and EMBASE (out of 351 titles retrieved). Information was therefore inferred from studies in normal volunteers or in other diseases. DISCUSSION AND CONCLUSIONS Our case differs from other reports on lower TSH at diagnosis, underlining the need for awareness of the importance of early diagnosis. Integrating the scant literature on dialysis patients with data available in the general population, some working conclusions can be reached: while all phosphate binders potentially interfere with levothyroxine absorption, interference seems to be highest for sevelamer; interference is limited but not excluded by increasing the intervals between drugs; morning fast is usually indicated but, when clashing with the timing of other drugs, a bedtime dose and liquid preparations may be indicated. In the absence of an agreed control schedule, our case supports close monitoring of TSH (1-3 months if unstable, twice-yearly in stable patients).
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Osteomalacia-Inducing Tumors of the Brain: A Case Report, Review and a Hypothesis.
Fathalla, H, Cusimano, M, Di Ieva, A, Karamchandani, J, Fung, R, Kovacs, K
World neurosurgery. 2015;(1):189.e1-5
Abstract
BACKGROUND Osteomalacia-inducing tumors (OIT) are mesenchymal tumors that characteristically secrete fibroblast growth factor 23, resulting in a paraneoplastic syndrome of hypophosphatemic osteomalacia. These tumors are known to occur in soft tissues and bones in various sites. It is very unusual for OITs to occur intracranially, with only 10 reported intracranial cases since their discovery in 1959. The most common intracrainal OITs are phosphaturic mesenchymal tumors and hemangiopericytomas. We report a case of hypophosphatemic osteomalacia caused by a tumor in the right anterior cranial fossa. We also hypothesize, based on our review of the literature, that this entity is underdiagnosed. CASE DESCRIPTION A 49-year-old woman had a history of a nonhealing ankle fracture that required repeated surgery over 3 years. She subsequently was found to have severe hypophosphatemia and evidence of osteomalacia together with multiple occult fractures. A diagnosis of tumor-induced osteomalacia was suspected. An elevated serum fibroblast growth factor 23 level confirmed the diagnosis. An octreotide scan that was performed to locate the responsible tumor revealed an area of avid uptake in the right frontal lobe. Magnetic resonance imaging showed a large right anterior fossa extra-axial mass. The patient was referred for surgical intervention and was cured clinically after surgical removal of the tumor. Pathologic examination revealed a phosphaturic mesenchymal OIT. Her phosphate levels returned to normal 3 weeks after surgery. CONCLUSIONS The diagnosis of OIT should be considered in a case of severe hypophosphatemia and metabolic bone disease that is not explained by any other metabolic or hereditary disease. These tumors can occur intracranially and may be confused with a meningioma or a hemangiopericytoma. Taking OIT into consideration in such cases could lead to a shorter time to diagnosis and management, which in our case took 4 years.
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The changing face of hypophosphatemic disorders in the FGF-23 era.
Lee, JY, Imel, EA
Pediatric endocrinology reviews : PER. 2013;(0 2):367-79
Abstract
In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting. Recent understanding of the mechanisms of disease and role of fibroblast growth factor 23 (FGF-23) in XLH and other hypophosphatemic disorders have opened new potential therapeutic avenues. We will discuss the current standard of treatment for XLH as well as promising future directions under study.
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Severe hyperphosphatemia after administration of sodium-phosphate containing laxatives in children: case series and systematic review of literature.
Ladenhauf, HN, Stundner, O, Spreitzhofer, F, Deluggi, S
Pediatric surgery international. 2012;(8):805-14
Abstract
INTRODUCTION Sodium phosphate-containing laxatives are commonly used as first-line treatment option for constipation in children and adolescents. Hyperphosphatemia is an infrequent, but potentially life-threatening complication of laxative application. METHODS We report a case series of three children exhibiting severe hyperphosphatemia and hypocalcemia after utilization of sodium phosphate-containing laxatives, necessitating intensive care services in two of three cases. Additionally, we reviewed 32 case reports of similar occurrences. RESULTS We identified 28 publications on the subject dating from 1968 to 2010. Mean age of all children in reports was 2.83 years; sex was approximately equally distributed. While 18 patients suffered from either pre-existing gastrointestinal comorbidity or other major systemic disease, no or only unrelated, minor conditions were present in ten children. One-third of patients received laxatives repeatedly before the incident. Findings associated with hyperphosphatemia include lethargy, dizziness, stiffness, tachypnea, tachycardia and severe dehydration in almost all cases, and tetany, carpopedal spasm, and prolonged QT interval in a subset. While about 80% of children recovered without residual findings, three deceased and one incurred persistent hypoxic brain damage. CONCLUSION Physicians should be alerted to the possibility of phosphate toxicity in children and adolescents treated with laxatives.
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[Phosphate nephropathy: how to avoid it?].
Bourquin, V, Ponte, B, Zellweger, M, Levy, M, Hadengue, A, Moll, S
Revue medicale suisse. 2011;(317):2227-8, 2230-1
Abstract
Colonoscopy is a commonly used procedure for colon cancer screening. The ideal bowel preparation for a good visualization of the colonic mucosa would be effective and well tolerated. Sodium phosphate (NaP) and polyethylen glycol (PEG) are the two most frequently used solutions in this indication. However, although NaP has been described as more effective and better tolerated, it can cause severe acute electrolytes disturbances and, in rare cases, lead to irreversible renal failure, called phosphate nephropathy. NaP should therefore be prescribed with caution and be formally banned for patients with risk factors.
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Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
Yavropoulou, MP, Kotsa, K, Gotzamani Psarrakou, A, Papazisi, A, Tranga, T, Ventis, S, Yovos, JG
Hormones (Athens, Greece). 2010;(3):274-8
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Abstract
X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate and vitamin D preparations is sometimes complicated with nephrocalcinosis, secondary or tertiary hyperparathyroidism and arterial hypertension. We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene. The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension. Cinacalcet was added to the therapeutic regimen and the long-term effects on calciotropic parameters and FGF23 levels are herein reported.
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Phosphaturic mesenchymal tumor diagnosed by fine-needle aspiration and core biopsy: a case report and review of literature.
Policarpio-Nicolas, ML, Abbott, TE, Dalkin, AC, Bennett-Wick, J, Frierson, HF
Diagnostic cytopathology. 2008;(2):115-9
Abstract
Oncogenic (tumor-induced) osteomalacia is a rare paraneoplastic syndrome of phosphate wasting that is frequently associated with phosphaturic mesenchymal tumor (PMT). As the cytologic features of this tumor apparently have not been reported, we describe the fine-needle aspiration (FNA) findings for PMT that arose from the gluteal soft tissue in a patient with hypophosphatemia and multiple fractures secondary to osteomalacia. Smears from the computerized tomography (CT)-guided FNA showed groups of spindle cells having elongated nuclei, fine to moderately coarsely granular chromatin, inconspicuous nucleoli, and delicate cytoplasm. Marked nuclear atypia, mitotic figures, and necrosis were absent. The differential diagnosis included a variety of benign and malignant spindle cell neoplasms such as monophasic synovial sarcoma, leiomyoma, peripheral nerve sheath tumor, fibrosarcoma, and, less likely, metastatic melanoma and sarcomatoid carcinoma. The bland-appearing cytologic features of a spindle cell tumor in a patient with osteomalacia should suggest the diagnosis of PMT.