Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0151825 (bone pain)
 3,118 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 17 year old man with longstanding hypocalcemia and hyperphosphatemia presented with incapacitating bone pain and progressive weakness nad bowing of the legs. The serum abnormalities were due to idiopathic hypoparathyroidism as evidenced by a decreased serum concentration of parathyroid hormone and an appropriate rise in urinary cyclic AMP and phosphate excretion, and serum calcium concentration, in response to exogenously administered parathyroid extract. The serum concentration of 1,25-dihydroxycholecalciferol was appropriately decreased. The bone findings were due to osteomalacia as documented by physical findings, bone roentgenograms, and bone biopsy. Normal renal tubular function, blood pH, and serum concentration of 25-hydroxycholecalciferol and elevated serum alkaline phosphatase excluded the common causes of osteomalacia. The data are consistent with the hypothsis that lack of parathyroid hormone causes both hypocalcemia and a decreased serum concentration of 1,25-dihydroxycholecalciferol which, in turn, limit the availability of calcium and cause defective synthesis of bone matrix resulting in abnormal mineralization.
 ...
PMID:Hypoparathyroidism: a possible cause of osteomalacia . 87 58

This is a report of a 6-year-old girl with the rare syndrome of hyperostosis with hyperphosphatemia. Only eight cases have been previously reported. The main features of this syndrome are repeated attacks of bone pain and swelling, the radiologic finding of periosteal reaction with cortical hyperostosis, and the laboratory finding of increased serum phosphorus level with normal serum calcium and parathyroid hormone levels. The purpose of this article is to review the clinical picture, laboratory and radiological findings, and the differential diagnosis.
 ...
PMID:Hyperostosis with hyperphosphatemia: a case report and review of the literature. 328 8

A young girl had tibial osteotomies at age 14 for genu valgum and then had recurrent tibial cysts over a number of years. Hypocalcemia and hyperphosphatemia were first noted at age 21. The diagnosis of pseudohypoparathyroidism was made at age 28, when elevated plasma PTH was detected. Clinical and biochemical features, including a PTH response test and assay of RBC Gs, established the diagnosis of pseudohypoparathyroidism type 1b. Failure to suppress plasma PTH with vitamin D therapy led to an exacerbation of her cystic bone disease; there were widespread lytic lesions radiologically, most of which took up [99mTc]diphosphonate on bone scan. Microradioscopy revealed evidence of resorption of phalangeal tufts. Bone biopsy showed osteitis fibrosa cystica. During an orthopedic procedure, trabecular bone fragments were taken from her right humerus, and bone-derived cells cultured using an explant technique. The cultured cells were osteoblast-like in morphology, fully responsive to PTH, cholera toxin, forskolin, and PGE1 in vitro, and had an alkaline phosphatase and osteocalcin response to 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3]. Following this examination of skeletal responsiveness, attempts were made to suppress the elevated plasma PTH levels and symptomatic bone disease by optimizing therapy with oral 1,25-(OH)2D3. When bone pain associated with the cystic bone disease failed to resolve, the patient underwent total parathyroidectomy, following which the bone pain gradually resolved. This is the first direct demonstration of PTH responsiveness in cultured bone cells in the syndrome of pseudohypoparathyroidism with osteitis fibrosa cystica.
 ...
PMID:Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. 842 51

Tumor lysis syndrome, which develops after effective therapy of malignant conditions and leads to hyperuricemia, hyperkaliemia, hyperphosphatemia, hypocalcemia and elevated lactate dehydrogenase, is uncommon in solid tumors. In breast carcinoma it can be associated with tamoxifen flare, i.e. a transient increase in symptoms, mainly bone pain, observed shortly after the start of tamoxifen therapy. We report the case of a patient with advanced breast carcinoma involving the pleural space, unresponsive to combined chemotherapy, who experienced rapid worsening after the initiation of letrozole. Her symptoms included shock, bilateral pleural effusion, cardiac tamponade and oliguria. Laboratory parameters disclosed elevated transaminase, lactate dehydrogenase, uric acid and D-dimer blood levels. The patient was in critical condition for nearly 2 weeks. She improved progressively and has remained well and in complete remission for 20 months. This clinical picture suggests increased damage to the pleura (and probably the pericardium) and rapid leakage of tumor products, following the start of endocrine therapy. Letrozole is a non-steroidal aromatase inhibitor which is used in advanced breast cancer, resistant to first-line endocrine/chemotherapeutic treatment. Our review of the literature did not disclose any other descriptions of flare and tumor lysis syndrome after aromatase inhibitor therapy. Moreover, this case was characterized by atypical and complex clinical features. The aim of this presentation is to point out the practical significance, in neoplastic patients, of the differential diagnosis between symptoms due to tumor progression and those associated with anomalous reactions to therapy.
 ...
PMID:Flare and tumor lysis syndrome with atypical features after letrozole therapy in advanced breast cancer. A case report. 1168 58

Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin D. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.
 ...
PMID:Pseudohypoparathyroidism presenting with bony deformities resembling rickets. 1510 17

Secondary hyperparathyroidism (SHP) is a frequent complication of long-term dialysis patients, and surgical parathyroidectomy remains necessary in patients resistant to medical therapy. The present paper reports single center results in subtotal parathyroidectomy, presenting diagnostic procedure, indications for parathyroidectomy, and postoperative course of metabolic and endocrine disorders. Forty-seven patients (25 males and 22 females), aged 25-60 years, regularly hemodialyzed between 3-23 years, have undergone parathyroidectomy at our Clinical Center during the last 10 years. The patients had plasma iPTH levels 8-45 times higher than the top normal limit, high values of alkaline phosphatase, calcemia on the upper normal level, and hyperphosphatemia. Radiographic changes characteristic for SHP were seen in all patients before parathyroidectomy, and the most common were subperiosteal resorptions (100%), bone cysts and periosteal neostosis (66%), and extraskeletal calcifications (98%). Enlarged parathyroid glands were seen by ultrasound in 62% of patients. All patients manifested pruritus and bone pain, 89% of them had myopathy, while other symptoms and signs were present in lower proportions. After parathyroidectomy, pruritus and myopathy reduced significantly, while pain in bones and joints remained. One patient had brown tumor at the maxillary bone that regressed gradually after parathyroidectomy. Significant decreases of phosphate and calcium levels were recorded in all but two patients on the very first postoperative day. Regular peroral and parenteral supplementations of calcium and vitamin D metabolites were used, but calcemia was not normalized until the end of the third week of the postoperative period. Serum alkaline phosphatase showed an increase after the surgery, thereupon a sudden and then slower decrease up to 1 year from the surgery. Plasma iPTH levels, checked on the 21st postoperative day, were close to the lower normal limit in all but two (4.3%) patients with persistent SHP, who required reoperation. In conclusion, subtotal parathyroidectomy was proved as a successful and safe treatment for patients with SHP resistant to medical therapy, and treatment was followed by improvement of clinical symptoms and metabolic disorders.
 ...
PMID:Ten years' experience in subtotal parathyroidectomy of hemodialysis patients. 1571 30

Hyperphosphatemia is a common serious complication of chronic renal diseases, which needs appropriate continuous treatment in order to avoid ominous side effects. Therefore, oral chelating agents able to avoid phosphate absorption by the gut are mandatory. In the past, Aluminium salts, and more recently Calcium and Magnesium salts, and a synthetic resin polyallylamine hydrochloride have been employed, but Aluminium was later abandoned, because it has been a silent killer of many uremic patients, due to subtle absorption eventually leading to toxicity on Central Nervous System and bone, with allucinations, seizures, dementia, and osteomalacia, bone pain, fracturing osteodystrophy, and death. Recently, a new chelating agent able to bind dietary phosphate, namely Lanthanum carbonate has been introduced, with a proven efficacy profile for short-term treatment. However, after careful examination of the very few scientific papers available to date, we strongly advise caution before adopting, at present, lanthanum carbonate as a phosphate binder in uremic patients. In fact, notwithstanding minimized, some data are worrying: first, Lanthanum ions are absorbed, though at a minimal extent, by human gut; 2) pharmacokinetic evaluations show a greater exposure to Lanthanum in uremic patients;3) Lanthanum concentration is increased tenfold in blood and fivefold in bone after short-term supplementation in uremic patients; 4) there is no proofs that Lanthanum cannot cross the blood brain barrier in uremic patients; 5)Lanthanum has many biological effects and is potentially highly toxic. The Aluminum story should serve as cautionary tale when considering the use of new metal ions.
 ...
PMID:Blast from the past: the aluminum's ghost on the lanthanum salts. 1602 63

Fibroblast growth factor 23 (FGF23) is a circulating factor that plays critical roles in phosphate and vitamin D metabolism, as evidenced by the fact that FGF23 missense mutations cause autosomal dominant hypophosphatemic rickets (ADHR). Autosomal dominant hypophosphatemic rickets is characterized by hypophosphatemia with inappropriately normal 1,25-dihydroxyvitamin D concentrations, as well as bone pain, fracture and rickets. This phenotype parallels that of patients with tumor induced osteomalacia (TIO), X-linked hypophosphatemic rickets (XLH), and fibrous dysplasia (FD), in whom elevated serum FGF23 levels are often observed. The fibroblast growth factor receptors (FGFR1-4) play key roles in skeletal development, as well as in normal metabolic processes. Several FGFR isoforms that potentially mediate the activity of FGF23 have been implicated. In the short term, these findings will lead to further understanding of FGF23 function, and potentially in the long term, to targeted therapies in disorders of hypo- and hyperphosphatemia that involve FGF23.
 ...
PMID:Fibroblast growth factor 23 and its receptors. 1607 72

A 16-year-old boy with transfusion-dependent thalassemia major presented with tetany, numbness, bone pain, short stature and pubertal delay. His height SDS score=-2.6, BMI=22.4, spleen was palpable 5 cm and liver 7 cm below the costal margins. The cardio-vascular examination was normal. Laboratory investigations showed a hemoglobin level (8 g/dL), hypocalcemia, hyperphosphatemia and elevated alkaline phosphatase (ALP) with serum 25-OH D below 3 ng/ml and a normal magnesium level. Serum parathyroid hormone (PTH) level was lower (21 pg/mL; normal 16-70 pg/mL) than expected for the degree of hypocalcemia. Serum ferritin concentration was 4442 ug/L, insulin-like growth factor I (IGF-I) was 31 microg/L (normal 122- 286 microg/L), free T4 was 13.1 microg/dL, TSH 1.2 mIU/ml. These results revealed a combined vitamin D-parathyroid defect. Peak growth hormone (GH) responses to clonidine and glucagon tests were 7.6 ng/ml and 6.2 ng/ml, respectively. Serum LH and FSH concentrations were below 0.5 U/L and testosterone was below 10 ng/dl. Radiographs revealed osteopenia of the phalanges and long bones and DXA scanning revealed low BMD Z-score of the femoral neck and 4th and 5th lumbar spines. MRI showed evidence of hemosiderin deposition in the pituitary. The patient was started on oral daily calcium carbonate (1500 mg elemental calcium) and vitamin D2 (calciferol) 25,000 IU/day and intensive iron chelation therapy. A low dose of IM testosterone enanthate (1 mg/kg/month) was injected for 6 months. Follow-up after 4, 8 and 12 months revealed normal Ca, PO4, ALP, and 25-OH D concentrations and disappearance of spasms and numbness and increased growth velocity. In conclusion, investigating calcium homeostasis at regular intervals and early management of any abnormality can preclude the occurrence of complications.
 ...
PMID:An adolescent boy with thalassemia major presenting with bone pain, numbness, tetanic contractions and growth and pubertal delay: panhypopituitarism and combined vitamin D and parathyroid defects. 1933 71

Secondary and tertiary hyperparathyroidism (HPT) develop in patients with renal failure due to a variety of mechanisms including increased phosphorus and fibroblast growth factor 23 (FGF23), and decreased calcium and 1,25-dihydroxy vitamin D levels. Patients present with various bone disorders, cardiovascular disease, and typical laboratory abnormalities. Medical treatment consists of controlling hyperphosphatemia, vitamin D/analog and calcium administration, and calcimimetic agents. Improved medical therapies have led to a decrease in the use of parathyroidectomy (PTX). The surgical indications include parathyroid hormone (PTH) levels >800 pg/ml associated with hypercalcemia and/or hyperphosphatemia despite medical therapy. Other indications include calciphylaxis, fractures, bone pain or pruritis. Transplant recipients often show decreased PTH, calcium and phosphorus levels, but some will have persistent HPT. Evidence suggests that PTX may cause deterioration in renal graft function in the short-term calling into the question the indications for PTX in these patients. Pre-operative imaging is only occasionally helpful except in re-operative PTX. Operative approaches include subtotal PTX, total PTX with or without autotransplantation, and possible thymectomy. Each approach has its proponents, advantages and disadvantages which are discussed. Intraoperative PTH monitoring has a high positive predictive value of cure but a poor negative predictive value and therefore is of limited utility. Hypocalcemia is the most common complication requiring aggressive calcium administration. Benefits of surgery may include improved survival, bone mineral density and alleviation of symptoms.
 ...
PMID:The surgical management of renal hyperparathyroidism. 2210 74


1 2 Next >>