Cases reported "Osteomalacia"

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11/90. Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia.

    Somatic mutations of the MEN type 1 (MEN1) gene were recently shown to be responsible for tumorigenesis in 13-26% of sporadic, nonfamilial primary hyperparathyroidism. However, it is unknown whether these mutations are also involved in tumorigenesis of parathyroid glands occurring during high phosphate therapy for hypophosphatemic rickets or osteomalacia. A male patient with adult-onset, hypophosphatemic osteomalacia had been treated with 1alpha-OHD3 and oral phosphate for 13 yr when tertiary hyperparathyroidism developed. After total resection of four enlarged parathyroid glands and autotransplantation of a hyperplastic gland, the patient has continued to do well for the last 2 yr. sequence analysis of the coding exons of MEN1 gene revealed a 36-bp deletion with a 2-bp insertion (exon 2) in the right upper parathyroid gland accompanied with loss of heterozygosity at 11q13 locus and a heterozygous mutation of 2-bp deletion (AG) in exon 10 in the right lower gland, in which microsatellite instability was also found. No MEN1 gene mutation was detected in the other two hyperplastic parathyroid glands or in the peripheral blood. These findings indicate that MEN1 gene mutations contributed to tumorigenesis of the right upper parathyroid gland in this case of phosphate-induced tertiary hyperparathyroidism. Very recently a bone tumor was found in the right femoral neck, and the tumor (chondroblastoma) was resected.
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ranking = 1
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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12/90. Congenital rickets.

    Although rickets in premature newborns is known to occur, term babies presenting at birth is uncommon. We report a term baby born to a mother with osteomalacia, and presented at birth with signs of florid rickets which was confirmed biochemically. After 4 weeks of treatment, radiological signs of healing were seen.
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ranking = 0.0038409775899722
keywords = rickets
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13/90. The effects of phosphate and vitamin d therapy on osteopenic, hypophosphatemic osteomalacia of childhood.

    Two severely osteopenic adolescent males with clinical manifestations of adult onset hypophosphatemic osteomalacia were resistant respectively to physiological and pharmacological doses of vitamin d. Clinical improvement ensued following initiation of pharmacological doses of vitamin d and phosphate. Non-decalcified bone biopsies obtained before and during therapy exhibited correction of an isolated mineralization in the second. The response to treatment was reflected in striking changes in tetracycline-labelled calcification fronts in both patients.
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ranking = 0.81963802180809
keywords = hypophosphatemic
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14/90. Tumour induced osteomalacia: a report of two cases. A disease of defective matrix synthesis?

    Tumour induced hypophosphataemic osteomalacia or rickets is a well delineated clinical entity. There is confusion, however, about the nomenclature and classification of the associated tumours. The tumour factor responsible for the biochemical abnormalities has also not been identified. We report here two cases: one, a 43 year old male with a soft tissue tumour in the left vastus medialis, and the other, a 25 year old female with a soft tissue tumour in the right anterior axillary fold. Reversal of biochemical abnormalities and clinical improvement occurred after removal of the tumour in both cases. Both tumours showed unusual morphology characterised by spindle cell component, large vascular spaces, osteoclast-like giant cells, calcification and ossification. The tumour in the second patient was benign, while the nature of the tumour in the first patient was debated. We speculate that defective matrix may be the cause of unusual histology of the tumours, and also the source of the phosphaturic factor.
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ranking = 0.00064016293166203
keywords = rickets
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15/90. Evaluation of the parathyroid function in six patients with hypophosphatemic osteomalacia, including a case of tertiary hyperparathyroidism developing during combined oral phosphate and vitamin d therapy.

    AIM: To describe a case of tertiary hyperparathyroidism after long-term phosphate and vitamin d therapy and the retrospective evaluation of parathyroid function in 6 patients with hypophosphatemic osteomalaica. methods: We evaluated the parathyroid function by measuring iPTH before and during treatment and divided the patients into normal and elevated serum iPTH groups. RESULTS: In the normal serum iPTH group, the 4 patients were all males, whereas the 2 patients in the elevated serum iPTH group were females. Clinical characteristics and biochemical results showed no differences between the two groups. One of the women with an elevated iPTH level (224 pg/ml) had a normal serum calcium level and no evidence of increasing parathyroid uptake by (99m)Tc-MIBI scan 52 months after treatment. The other woman also had an elevated iPTH level (483 pg/ml) and a normal serum calcium level 56 months after treatment. However, in this latter case both her iPTH (1,447 pg/ml) and serum calcium (11.3 mg/dl) levels were elevated 113 months after treatment, when a (99m)Tc-MIBI scan showed increased uptake in all four parathyroid glands during early and delayed phases of the scan. parathyroidectomy was performed after the diagnosis of tertiary hyperparathyroidism was made, and the histological findings showed adenomatous hyperplasia. CONCLUSIONS: Our findings indicate that even with vitamin d therapy, long-term phosphate therapy may lead to the development of secondary or tertiary hyperparathyroidism in hypophosphatemic osteomalacia and, therefore, suggest that it is important to carefully monitor the parathyroid function during therapy in those with hypophosphatemic osteomalacia.
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ranking = 1.1474932305313
keywords = hypophosphatemic
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16/90. Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasia.

    A 17 year-old girl with polyostotic fibrous dysplasia and hypophosphatemia had inappropriately low tubular reabsorption of phosphate. She had radiological evidence of rickets and osteomalacia. The patient showed clinical improvement after treatment with phosphate supplementation, active vitamin d (calcitriol) and alendronate. It is postulated that either a phosphaturic substance elaborated from the dysplastic bone or target-organ (kidney) unresponsiveness may interfere with phosphate reabsorption in the renal tubule.
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ranking = 0.0032008146583101
keywords = rickets
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17/90. A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment.

    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a new autosomal form of hypophosphatemic rickets, recently described. This disease is characterized, and differs from other forms of hereditary hypophosphatemic rickets and/or osteomalacia by increased serum levels of 1,25-dihydroxyvitamin D, hypercalciuria and complete remission of the disease on phosphate therapy alone. However, only another probable Israeli kindred, and seemingly a few sporadic cases from europe, north america and japan have been reported in the literature. We describe here a new kindred of Jewish Yemenite origin (unrelated to other Israeli families) with typical HHRH. Two additional members of this family suffer from a milder asymptomatic form of the disease, which presents as absorptive hypercalciuria without signs or symptoms of bone disease. It seems to us that HHRH is underdiagnosed, due to its similarity to other hypophosphatemic syndromes in clinical, radiological and most biochemical parameters. Therefore, it is recommended that urinary calcium excretion and serum 1,25-dihydroxyvitamin D concentrations be measured in every patient with hypophosphatemic rickets/and or osteomalacia before the initiation of any therapy. The correct diagnosis of HHRN is of immense therapeutic implications. Phosphate therapy alone could cause a complete remission in HHRH, while the addition of active vitamin d metabolites, as is recommended in hypophosphatemic vitamin d resistant rickets, could cause deterioration in the patient's condition.
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ranking = 1.7713911971902
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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18/90. hip pain in a case of hypophosphatemic osteomalacia.

    Hypophosphatemic rickets, a rare metabolic bone disease, presents mainly in children but has also been reported in several adults. In this report, we describe the case of a man presenting with hip pain and weakness, both of several months' duration, and tested for hypophosphatemic rickets. The patient was eventually referred to a tertiary-care center, where he was diagnosed with bilateral subtrochanteric femoral stress fractures and severe osteopenia secondary to hypophosphatemic osteomalacia. The patient was treated with closed reduction and internal fixation and vitamin d and phosphorus. Outcomes were good at 7-month follow-up.
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ranking = 1.0006401629317
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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19/90. Renal tubular acidosis, Sjogren syndrome, and bone disease.

    BACKGROUND: There has been disagreement about whether osteomalacia (adult rickets) occurs in adults with type 1 (distal) renal tubular acidosis (RTA1). Therefore, after finding scapular pseudofractures in a patient with RTA1 and Sjogren syndrome, we decided to survey other patients with RTA to learn whether osteomalacia occurred in others and, if it did, whether it was necessarily associated with the presence of Sjogren syndrome. methods: We examined the hospital records and laboratory findings of 250 patients with codes for RTA, 124 with codes for osteomalacia, and 20 with codes for Sjogren syndrome who were seen at a university-affiliated acute care municipal hospital since 1990. Further detailed survey was then limited to patients older than 15 years and excluded those with potentially confounding causes of bone disease such as chronic renal insufficiency or sickle cell disease. Seven adults with RTA1 were thereby identified. RESULTS: Two adults with RTA1 had radiological and biochemical findings compatible with osteomalacia, and 1 had findings compatible with Sjogren syndrome. A third patient without Sjogren syndrome had biochemical findings suggestive of osteomalacia. CONCLUSIONS: osteomalacia seems to occur in some adult patients with RTA1, and not only in association with Sjogren syndrome. We found no biochemical evidence of osteomalacia in the patients with Sjogren syndrome who did not have RTA.
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ranking = 0.00064016293166203
keywords = rickets
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20/90. Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia.

    Tumor-induced osteomalacia (TIO) is a paraneoplastic disorder characterized by hypophosphatemia, phosphaturia, inappropriately low serum levels of 1,25-dihydroxyvitamin D for hypophosphatemia, and skeletal undermineralization. patients with TIO suffer from severe muscle weakness and pain. Because surgical removal of the responsible tumors is the only satisfactory treatment for TIO, identification of the tumors is clinically essential. However, because they are predominantly slow-growing neoplasms of benign mesenchymal origin, localization of the responsible tumors is often very difficult. Moreover, even if a tumor is found in a patient with hypophosphatemic osteomalacia, we have had no way to know that the tumor is actually causing the disease. Fibroblast growth factor-23 (FGF-23) was recently identified as a causative factor for TIO and was shown to induce renal phosphate wasting. We have recently shown that the circulatory FGF-23 level was high in a patient with TIO and rapidly decreased after removal of the responsible tumor. For the first time, we describe a patient with adult-onset hypophosphatemic osteomalacia in whom a clinical diagnosis of TIO was confirmed before surgical removal of the tumor by localizing the responsible tumor using venous sampling for FGF-23 together with magnetic resonance imaging. This combinatorial procedure would be clinically useful for sporadic cases of hypophosphatemic rickets/osteomalacia.
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ranking = 0.50821720376613
keywords = hypophosphatemic, hypophosphatemic rickets, rickets, dominant
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