Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 78-year old male with ureteral carcinoma manifesting hypercalcemia is reported. He was diagnosed as having ureteral carcinoma of the left side 2 years previously and was treated by nephrectomy with ureterovesicostomy. In October 1991, he was admitted for anorexia. A clinical examination revealed recurrence of the ureteral carcinoma with metastasis to the rectum and liver. His serum calcium level was elevated (13.9 mg/dl). In addition to rehydration and furosemide, treatment with eel-calcitonin and prednisolone failed to decrease his serum calcium level. Finally, he was administered mithramycin but he died 13 days later. He had no evidence of bone metastasis or hyperparathyroidism. Nephrogenic cAMP and urinary parathyroid hormone-related protein (PTHrP) were markedly elevated. Immunohistochemical study demonstrated expression of PTHrP in the tumor cells. Thus, the hypercalcemia was thought to be mediated by PTHrP secreted from the neoplastic tumor. Although there have been several reports of ureteral carcinoma associated with humoral hypercalcemia of malignancy, this is considered to be the first case associated with elevation of PTHrP.
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PMID:Humoral hypercalcemia of malignancy associated with parathyroid hormone-related protein producing transitional cell carcinoma of the ureter. 801 40

A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.
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PMID:Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. 821 75

The authors report on a case of severe primary hyperparathyroidism with clinical signs from birth. The boy was admitted because of poor somatomental development, hypotony, hepatosplenomegaly and osseous abnormalities, resembling those of rachitis. Laboratory data showed the typical findings of primary hyperparathyroidism. The authors performed parathyroidectomy with simultaneous heterotopic parathyroid tissue autotransplantation. Histology revealed parathyroid chief cell hyperplasia. Because of the hypercalcaemia and clinical signs persisting after the operation they removed the parathyroid autografts. Since this later was ineffective they performed a left sided neck dissection on the side of the excessive parathormone production. The child became hypocalcaemic necessitating calcium and vitamin D administration. He is now 17 months after the last operation. His somatomental development is accelerated. In connection with the case the authors surveyed the literature of this rare entity.
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PMID:[Neonatal primary hyperparathyroidism]. 875 9

A patient with adult T-cell leukemia (ATL) characterized by a suppressor phenotype is reported. A 52-year-old mulatto male presented with symptoms and signs of hypercalcemia. His laboratory finding disclosed a peripheral blood specimen with abnormal cells characterized by a rather pleomorphic morphology and polylobated nucleous typical of ATL cells. Serum calcium and LDH were 18.2 mg/dl and 1373 IU, respectively. The phenotype of these cells was CD2+, CD4-, CD8+, CD28+ associated with the expression of activated antigens such as CD25, CD38, CD71 and CD30. Ki-67 positive were found in 20% of cells. The argyrophilic stain for nuclear organizer regions (AgNORs) was shown one cluster in 35% of abnormal cells. The serum antibodies were positive against human T-cell lymphotropic virus type I (HTLV-I) and clinical features were compatible with the diagnosis of ATL acute type. The combination therapy with cyclophosphamide, vincristine, prednisone decreased the number of leukemic cells but the clinical course was aggressive. He only responded transiently to treatment and died of multiorgan failure due to uncontrollable septicemia two weeks after admission.
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PMID:Adult T-cell leukemia (ATL) with an unusual immunophenotype and a high cellular proliferation rate. 888 68

Parathyroid hormone-related protein (PTHrP) is an important causal factor of hypercalcemia associated with malignancy. PTHrP also modulates cell growth and differentiation of normal cells through mechanisms that include binding to cell surface-specific receptors as well as by possible intracellular routes. To understand the regulation of intracellular PTHrP expression, post-translational processing of PTHrP was investigated. Using cell-free translations it was shown that PTHrP can be ligated efficiently to multiple ubiquitin moieties. Both conjugation to ubiquitin and degradation of prepro-PTHrP synthesized in vitro were ATP-dependent. Translation in vitro in the presence of the proteasome inhibitor MG-132 abolished the degradation of PTHrP. Treatment of cells, cotransfected with hemagglutinin-tagged ubiquitin and histidine-tagged prepro-PTHrP, with MG-132, led to the accumulation of ubiquitinated prepro-PTHrP. Deletion mutagenesis experiments indicated that both the prepro secretory domain and a PEST (amino acid residues Pro (P), Glu (E), and/or Asp (D), Ser (S), and Thr (T)) motif in the COOH-terminal region of the protein were not required as cis-acting determinants for ubiquitination. This is the first report of a wild-type secretory polypeptide serving as a substrate of the ubiquitin proteolytic pathway. These results suggest that the ubiquitin-dependent proteolytic pathway is involved in regulating the metabolic stability of intracellular PTHrP, and this regulation may be an important mechanism for modulating its effects on cell growth and differentiation.
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PMID:Preproparathyroid hormone-related protein, a secreted peptide, is a substrate for the ubiquitin proteolytic system. 904 3

A 69-year-old man visited in the department of ophthalmology of this university, complained with exophthalmos. He was pointed out hypercalcemia and transferred to the department of endocrinology. The chest X-ray and thoracic CT showed a large mass in lower lobe of the left lung. Cytological diagnosis of this tumor was squamous cell carcinoma. In clinical examination, serum CA was 12.2 mg/dl in spite of normal level of PTH, calcitonin, 1 alpha, -25 (OH) 2D3 and uric cAMP. On the other hand, PTHrP-intact in serum was 9.8 pmol/l. His thyroid gland had no abnormality in palpation or roentogenological examination. The thyroid functions, thyroglobulin, thyrotropin receptor antibody, thyroid test and microsome test were all in normal limit. From these results, he was diagnosed of lung cancer with humoral hypercalcemia of malignancy and euthyroid "isolated" Graves' ophthalmopathy. Left lower lobectomy with mediastinal lymph node dissection (R 2 a) was done and p-stage was IIIA. After operation, serum Ca decreased in normal level and the exophthalmos was also improved gradually. He was in well until 10 months after operation, and died with multiple lung metastases and hypercalcemia. Exophthalmos was also recurred in his terminal stage. Similar case could not find in literature and some discussion of the literatures was mentioned.
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PMID:[A case of squamous cell carcinoma of the lung associated with exophthalmos and hypercalcemia]. 949 73

A 15-year-old boy had hypercalcemia in association with malignant retroperitoneal paraganglioma. He had suppressed circulating levels of intact parathyroid hormone, whereas parathyroid hormone-related protein (PTHrP) immunoreactivity was elevated in plasma. Both the serum 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels were normal. Preoperatively the patient required control of hypercalcemia with intravenous pamidronate therapy. His circulating calcium and PTHrP concentrations became normal after a successful surgical resection of the primary retroperitoneal tumor. To our knowledge, this is the first reported case of elevated PtHrP levels in a patient with paraganglioma which resolved postoperatively.
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PMID:Hypercalcemia in malignant paraganglioma due to parathyroid hormone-related protein. 983 43

Autosomal dominant hypocalcemia (ADH), caused by activating mutations of the calcium-sensing receptor (CaSR), is characterized by hypocalcemia with an inappropriately low concentration of PTH. Among 11 missense mutations of CaSR reported to date in patients with ADH or sporadic hypocalcemia, functional properties of 8 mutant CaSRs were characterized. Here, we describe a novel mutation of CaSR and its functional property in a family with ADH. The 41-yr-old male proband had asymptomatic hypocalcemia with a history of recurrent nephrolithiasis. His father had asymptomatic hypocalcemia, but his mother was normocalcemic. PCR-single strand conformation polymorphism and sequencing revealed that both the proband and the father had a novel heterozygous mutation in CaSR gene that causes lysine to asparagine substitution at codon 47 (K47N), which is in the extracellular domain of CaSR, like 6 of 11 known activating mutations. Using HEK293 cells transfected with wild-type or K47N CaSR complementary DNA, the intracellular Ca2+ concentration was assessed in response to changes in the extracellular Ca2+ concentration. The EC50 of the mutant CaSR for the extracellular Ca2+ concentration was 2.2 mmol/L and was significantly lower than that of wild-type (3.7 mmol/L). These results confirm that this mutation is responsible for ADH in this family. The fact that several inactivating mutations in familial hypocalciuric hypercalcemia occur in amino acid around K47 suggests the importance of the N-terminal portion of the receptor in extracellular Ca sensing.
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PMID:A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 992 Jan 8

Three patients with extensive, symptomatic tumoral calcinosis (TC) were studied after renal transplantation. Changes in TC-related symptoms, radiological appearances, calcium, phosphate and intact parathyroid hormone concentrations were recorded. All patients noted an immediate reduction in pain and in 2 patients the TC rapidly resolved. Their TC was not palpable by 6 months and radiographs showed near complete resolution at 12 months. Both developed hypercalcemia and in one patient this was associated with polyuria and renal impairment. Bisphosphonates reduced the hypercalcemia but increasing the corticosteroids had no effect. The third patient remained dialysis dependent due to technical problems and rejection but continued on immunosuppression to preserve residual graft function. His TC improved symptomatically but grew radiologically. These cases demonstrate that rapid resolution of TC may occur after successful renal transplantation and that bisphosphonates can ameliorate the associated hypercalcemia. Early symptomatic benefit may occur without graft function and is probably due to the anti-inflammatory action of corticosteroids.
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PMID:Rapid resolution of tumoral calcinosis after renal transplantation. 1087 72

A 39-year-old Chinese man with hypertension being evaluated for elevated serum alkaline phosphatase (SAP) levels was found to have an incidental right adrenal mass. The radiological features were characteristic of a large adrenal myelolipoma. This mass was resected and the diagnosis confirmed pathologically. His blood pressure normalised after removal of the myelolipoma, suggesting that the frequently observed association between myelolipomas and hypertension may not be entirely coincidental. Persistent elevation of the SAP levels and the discovery of hypercalcaemia after surgery led to further investigations which confirmed primary hyperparathyroidism due to a parathyroid adenoma. The patient's serum biochemistry normalised after removal of the adenoma. The association of adrenal myelolipoma with primary hyperparathyroidism has been reported in the literature only once previously. Although unconfirmed by genetic studies this association may possibly represent an unusual variation of the multiple endocrine neoplasia type 1 syndrome.
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PMID:The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis. 1006 58


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