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Challenges in the treatment of fibrodysplasia ossificans progressiva.
Gencer-Atalay, K, Ozturk, EC, Yagci, I, Ata, P, Delil, K, Ozgen, Z, Akyuz, G
Rheumatology international. 2019;(3):569-576
Abstract
Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant connective tissue disease with a prevalence of 1 in 2 million. It is characterized by congenital foot deformities and multiple heterotopic ossifications in fibrous tissue. It usually starts with painful soft tissue swellings occurring with attacks at the ages of three or four. The attacks develop spontaneously or after minor trauma, and gradually turn into heterotopic ossifications that cause joint limitations, growth defects, skeletal deformities and chronic pain. The average life expectancy is forthy, and most of the patients are lost due to pulmonary complications. FOP is often misdiagnosed as fibromatosis, desmoid tumour or cancer, bunion, myositis, arthritis and rheumatic diseases. After clinical suspicion, confirmatory genetic analysis should be used for the diagnosis. The treatment of FOP is currently supportive. An effective, proven method has not yet been established. Herein, we present an 18-year-old female patient with FOP who underwent different treatment modalities in a 5-year period. This case-based review reveals all available treatment approaches with at least 6-month follow-up for FOP in the literature.
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Chronic Myeloid Leukemia Associated Hypercalcemia: A Case Report and Literature Review.
Toro-Tobón, D, Agosto, S, Ahmadi, S, Koops, M, Bruder, JM
The American journal of case reports. 2017;:203-207
Abstract
BACKGROUND Hypercalcemia associated with chronic myeloid leukemia (CML) is an ominous sign. Although rare, several cases have been reported and multiple pathophysiologic mechanisms have been independently proposed. We present a patient case and a literature review of the clinical presentation and mechanisms of CML-associated hypercalcemia. CASE REPORT A 58-year-old male with a past medical history of CML diagnosed six years earlier, presented to the emergency department with one week of acute confusion, disorientation, polyuria, and polydipsia. On physical examination, we observed tachycardia, altered mental status, and dehydration. Blood analysis revealed leukocytosis, thrombocytosis, and marked hypercalcemia (18.6 mg/dL). His chest CT scan showed diffuse lytic lesions and bone destruction concerning for diffuse bone marrow involvement. The patient was diagnosed with hypercalcemia in the context of a CML blast phase. Treatment with hydration, calcitonin, and zoledronic acid lead to control of his symptoms and normalization of his serum calcium levels. After discharged, the patient was maintained on palliative treatment and zoledronic acid management without new episodes of hypercalcemia. However, eight months later, the patient died. CONCLUSIONS Evidence from the literature demonstrates a highly variable clinical presentation of CML-associated hypercalcemia, commonly occurring during an accelerated or a blast phase, and associated with poor survival. Multiple mechanisms could be involved and are not exclusive of each other. Better understanding of the pathophysiologic mechanisms involved in CML-associated hypercalcemia could lead to improvement in clinical and laboratory evaluation of these patients and be the foundation for the development of better management strategies and possibly target-directed therapy to positively improve prognosis.
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Recombinant PTH therapy for severe hypoparathyroidism after kidney transplantation in pre-transplant parathyroidectomized patients: review of the literature and a case report.
Hod, T, Riella, LV, Chandraker, A
Clinical transplantation. 2015;(11):951-7
Abstract
Although transient hypocalcemia following kidney transplantation can occur, severe refractory hypocalcemia is uncommon. We report a case of a 31-yr-old highly sensitized man with end-stage renal disease caused by reflux nephropathy, who received an expanded criteria deceased donor kidney transplant. The post-transplant course was significant for profound hypocalcemia despite treatment with large doses of calcium and vitamin D, in the setting of severe hypoparathyroidism following a subtotal parathyroidectomy three yr prior to the transplant. His course was also complicated by suboptimal allograft function with significant new vascular changes seen in the allograft biopsy by seven wk post-transplant. Teriparatide (recombinant parathyroid hormone) injections were initiated (up to three times daily) with improvement in the vascular changes and a decrease in calcium phosphate calcification in biopsy, as well as reduction in hypercalciuria, restoration of calcium phosphate homeostasis and stabilization of allograft function. We describe six other cases of post-transplant hypoparathyroidism, with five of six having decreased allograft function and three of those five demonstrating significant accelerated vascular changes on biopsy. We discuss the use of teriparatide injections for the treatment of renal transplant recipients with impaired renal function in the setting of hypoparathyroidism.
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Challenge test to bisphosphonates in patients with hypersensitivity reactions to drugs.
Minciullo, PL, Allegra, A, D'Angelo, A, Musolino, C, Gangemi, S
Allergologia et immunopathologia. 2015;(2):127-30
Abstract
BACKGROUND Bisphosphonates are a commonly used class of drugs with known efficacy in the prevention and treatment of postmenopausal and steroid-induced osteoporosis, Paget's disease of bone, hypercaelcemia of malignancy, osteolytic lesions of multiple myeloma, and bone metastases. Nitrogen-containing bisphosphonates have a favourable tolerability and safety profile, cutaneous reactions have been reported. METHODS This is a retrospective case series study, based on the analysis of data from 1429 patients admitted to the Allergy and Clinical Immunology Division of the University of Messina between January 2011 and December 2012. Most patients had previous adverse drug reactions (ADRs) and referred to us for a challenge test with an alternative drug. RESULTS We observed six patients with a past history of adverse drug reaction who needed to be tested for bisphosphonates: three patients for risedronate, two for clodronate and one for alendronate. In two years only two patients were referred to us for an adverse reaction to bisphosphonates: one to alendronate and one to risedronate. Another patient presented a previous reaction to strontium ranelate. The other three patients reported previous hypersensitivity reactions to at least two different classes of drugs. All the patients experienced no reaction using the tested drugs. CONCLUSIONS In our experience drug challenge tests for bisphosphonates are safe and reliable.
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Bisphosphonate induced hypocalcaemia - report of six cases and review of the literature.
Kreutle, V, Blum, C, Meier, C, Past, M, Müller, B, Schütz, P, Borm, K
Swiss medical weekly. 2014;:w13979
Abstract
Intravenous bisphosphonates are widely used to treat osteoporosis and bone metastasis in cancer patients The risk of hypocalcaemia is a rare but underestimated side effect of anti-resorptive treatment. Clinically apparent hypocalcaemia is mostly related to high-dose treatment with zoledronate and denosumab in cancer patients Particular caution is mandatory in all malnourished patients and patients with renal failure who are treated for either bone metastases or osteoporosis. To avoid serious hypocalcaemia, pre-treatment calcium and vitamin D status should be assessed and corrected if appropriate.
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Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
Kienitz, T, Ventz, M, Kaminsky, E, Quinkler, M
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 2011;(7):431-5
Abstract
INTRODUCTION The most common form of familial hypophosphatemic rickets is X-linked. PHEX has been identified as the gene defective in this phosphate wasting disorder leading to decreased renal phosphate reabsorption, hypophosphatemia and inappropriate concentrations of 1,25-dihydroxyvitamin D in regard to hypophosphatemia. Clinical manifestation are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing. SUBJECTS AND METHODS We report 3 cases of hypophosphatemic rickets with genetic mutational analysis of the PHEX gene. In 1 male patient an unknown nonsense mutation was found in exon 7, codon 245 (c.735T>G, Tyr245Term, Y245X). In both female patients known mutations were found: c.682delTC (exon 6, codon 228) and c.1952G>C (exon 19, codon 651, R651P). Age at diagnosis ranged from early childhood to the age of 35 years. Clinical complications were hip replacement in 1 patient, mild nephrocalcinosis in 2 patients and loss of hearing in 1 patient. All 3 patients have been treated with phosphate supplements and receive 1,25-dihydroxyvitamin D. Under this regimen all patients show stable biochemical markers with slight hyperparathyreoidism. In all patients at least one family member is affected by rickets, as well. CONCLUSIONS We report a novel nonsense mutation of PHEX that has not been identified so far. The recent discovery of FGF23 and MEPE has changed our understanding of the kidney-bone metabolism, but also raises concerns about the efficacy of current therapeutic regimens that are reviewed in this context.
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7.
[Risk adapted treatment of osteoporosis].
Pfeilschifter, J
Deutsche medizinische Wochenschrift (1946). 2011;(11):525-32
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[Anabolic therapy of induced osteoporosis in beta-thalassaemia major: case report and literature review].
Trotta, A, Corrado, A, Cantatore, FP
Reumatismo. 2010;(2):119-26
Abstract
Transfusion program and chelating therapy treatment has extended the life expectancy of thalassaemic patient; osteoporosis is considered an important cause of morbidity in adult patients who display increased fracture risk. This is a case report is about a thalassaemic young female with multiple spine fractures (D11, D12 e L2) and lumbar spine DEXA - T score = -3,1 and femoral = -3,4. This was in spite of therapy with alendronate 70 mg/week from January 2006 to September 2007. The patient was subsequentently treated for 18 months with 1-34 recombinant human parathyroid hormone and colecalciferol (100.000 U/monthly). After 4 months of therapy, the patient showed a decrease in spinal pain (Roland and Morris Disability Questionnaire) and an improvement of quality of life (Qualeffo) with normalization of osteocalcin and 25-OHcolecalciferol haematic levels after 6 months. Lumbar spine and femoral DEXA - Tscore, at 18 months, rose respectively to -2,5 and -2,4. Thalassaemia-induced osteoporosis is multifactorial and its management is very difficult. Bone marrow expansion, endocrine dysfunction, iron overload and genetic factors all seem to play important roles in the development of low bone mass in these patients. Bisphosfonates have been used in the management of thalassemia induced osteoporosis but there is no data about fracture risk. Anabolic therapy for thalassemic patients requests additional study on a large scale.
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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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Improvement of chronic back pain or failed back surgery with vitamin D repletion: a case series.
Schwalfenberg, G
Journal of the American Board of Family Medicine : JABFM. 2009;(1):69-74
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Abstract
This article reviews 6 selected cases of improvement/resolution of chronic back pain or failed back surgery after vitamin D repletion in a Canadian family practice setting. Pub Med was searched for articles on chronic back pain, failed back surgery, and vitamin D deficiency. Chronic low back pain and failed back surgery may improve with repletion of vitamin D from a state of deficiency/insufficiency to sufficiency. Vitamin D insufficiency is common; repletion of vitamin D to normal levels in patients who have chronic low back pain or have had failed back surgery may improve quality of life or, in some cases, result in complete resolution of symptoms.