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)

The patient was a 54-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) who developed complicating systemic sarcoidosis. Hypercalcemia and an abrupt increase in serum creatinine levels were observed during the clinical course. Steroid therapy was initiated and produced a distinct improvement in renal function. A kidney biopsy was not feasible because ADPKD is a contraindication for renal needle biopsy. The clinical findings strongly suggested renal disorder secondary to tubulointerstitial nephritis caused by renal sarcoidosis with complicating hypercalcemia. In addition to controlling hypertension and improving the hypercalcemia and dehydration, steroid therapy also improved the renal function in this patient.
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PMID:Successful steroid treatment of a patient with autosomal dominant polycystic kidney disease complicated by sarcoidosis. 2133 42

Renal failure is a common complication in the course of multiple myeloma (MM). It is being observed in 20-40% of patients at the moment of disease diagnosis and in 10-36% of the cases dialysis treatment is required. Kidney damage is mainly caused by the toxic effect of monoclonal light chains, also known as Bence-Jones proteins produced by the pathological plasma cells. Light chains coaggregate with Tamm-Horsfall glycoprotein leading to casts formation in the distal nephron (cast nephropathy). Additional factors causing renal damage in MM may be dehydration, hypercalcemia, hyperuricemia as well as drug nephrotoxicity. We have described a 49 year-old woman diagnosed with IgA multiple myeloma at IIIB advance stage according to Durie and Salmona classification. The disease course was complicated by renal failure. Myeloma treatment (cyclophosphamide + talidomid + dexamethasone) was initiated simultaneously with hemodialysis therapy. Treatment with this was successful even though disease course was very severe and required longer-term hemodialysotherapy. Complete hematological remission was obtained and after 17 months of renal replacement therapy--hemodialysis treatment was ceased due to improvement of renal function. The presented case confirms the necessity of dialysis therapy initiation in every case of acute renal failure in the course of multiple myeloma--even when symptoms indicates an advanced stage of the disease. Initiation of dialysis therapy allows to initiate and continue the effective multiple myeloma treatment. This is the chance for recovery of renal function to such a level that dialysis treatment could be ceased, even after many months of dialysis therapy.
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PMID:[Withdrawal of maintenance dialysis in a patient with diagnosed multiple myeloma and renal failure as a consequence of effective anti-tumor treatment]. 2138 73

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia. Molecular analysis was performed on genomic DNA of the index case and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in the proband; both mother and father had the same mutation in heterozygous state, confirming their FHH condition. The mutation results in a truncated and inactive protein due to the lack of transmembrane and intracellular domains. The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.
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PMID:New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). 2146 22

Idiopathic infantile hypercalcaemia (IIH) is a mineral metabolism disorder of unknown origin. It is characterized by high levels of serum calcium resulting in parathyroid hormone (PTH) suppression, muscle hypotonia, thirst, anorexia, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. Treatment consists of low calcium diet, glucocorticoids, furosemide. We present a case of 5-month old girl with IIH, where total calcaemia peaked to 4.25 mmol/l. The leading symptoms were failure to thrive, constipation, muscle hypotonia, dehydration. Rehydration, low calcium diet, and application of glucocorticoids and furosemide resulted in a drop in calcaemia to normal values and an overall clinical improvement within two weeks. Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out. In conclusion, infants with failure to thrive should have their serum levels of minerals, especially, calcium, checked. In case of hypercalcaemia, treatment with corticosteroids and furosemide should be initiated, together with further diagnostic steps in order to elucidate its origin.
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PMID:Idiopathic infantile hypercalcaemia in 5-month old girl. 2169 61

We report a patient with diffuse large-type B-cell lymphoma showing hypercalcemia and a raised PTHrP serum level. He was a 72-year-old man with a history of multiple bone fractures due to a traffic accident 3 month ago, and was transferred to our hospital for further evaluation of a hepatic mass and for his rapidly deteriorating general condition. He had been in good health until about 2 weeks ago, but he developed dehydration, azotemia, lethargy, and altered mentality on admission. Laboratory tests revealed hypercalcemia of1 5. 3mg/dL. The hypercalcemia was associated with a high plasma concentration of PTHrP, whereas the parathyroid hormone(PTH-C)was undetectable. After forced hydration and administration of furocemide and calcitonin, hypercalcemia was improved. CT and MRI imaging showed para-aortic lymphadenopathy and a huge mass involving most of the light hepatic lobe and spleen. The pathological diagnosis at liver biopsy was DLBCL. He received six courses of chemotherapy with R-CHOP and is now stable. There was no recurrence of hypercalcemia or an elevation of PTHrP serum level during chemotherapy. The existence of PTHrP produced by tumor cells was suspected, and may have been related to the hypercalcemia in our case.
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PMID:[Hypercalcemia associated with parathyroid hormone-related protein(PTHrP)in a patient with diffuse large- type B-cell lymphoma(DLBCL)]. 2208 3

Multiple endocrine neoplasia (MEN) is a group of heritable syndromes characterized by aberrant growth of benign or malignant tumors in a subset of endocrine tissues. There are three major syndromes: MEN1, 2A and 2B. We describe a 60-year-old woman who initially manifested acute renal failure due to hypercalcemia and dehydration and, finally, was diagnosed as a sporadic MEN1 case.
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PMID:Acute renal failure as an initial manifestation of multiple endocrine neoplasia (MEN) type 1. 2223 32

We describe an infant with concomitant hypercalcemia and hyperammonemia associated with nonanion gap metabolic acidosis secondary to distal renal tubular acidosis (dRTA). The levels of both serum calcium and ammonia rapidly normalized with the correction of dehydration and metabolic acidosis. To the best of our knowledge, there has been only one previous case report of concomitant hypercalcemia and hyperammonemia associated with dRTA that has been reported in the literature. We describe the causes and emergent management of hypercalcemia and review the possible mechanisms of this rare association with dRTA.
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PMID:Concomitant hypercalcemia and hyperammonemia associated with distal renal tubular acidosis. 2239 25

Renal impairment is a common complication of multiple myeloma (MM) and is supported in virtually all patients by a tubulointerstitial pathology that results from high serum concentrations of monoclonal free light chains (FLCs). The proteins involved in the kidney injury and the analysis of their binding interactions have been thoroughly investigated and the main pathogenic mechanisms are being elucidated. Early sustained reduction of circulating FLC leads to improved renal recovery rates that translate into improved quality of life and survival. The mainstay of therapy is presently the removal of aggravating factors (dehydration, hypercalcaemia, nephrotoxic drugs) and the prompt institution of rapidly acting novel chemotherapy combinations. This approach allows the rescue of kidney function in more than two-thirds of patients. High cut-off haemodialysis dialysers may potentially add clinical benefits and the outcomes of controlled trials are eagerly awaited. Basic research findings have led to the design of targeted drugs that prevented the functional manifestations of acute kidney injury in animal models. There is now hope to prevent the renal damage in patients with MM.
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PMID:Myeloma kidney: advances in molecular mechanisms of acute kidney injury open novel therapeutic opportunities. 2227 64

Two siblings, a 6-month-old sexually intact male weighing 2.5 kg (cat 1) and a sexually intact female (cat 2) British Shorthair cat weighing 2.3 kg, were examined because of a 3-week history of polyuria, lethargy and laboured breathing. One year previously, another sibling (cat 3) had been presented because of similar, yet more severe, clinical signs at the age of 5 months. Physical examination revealed lethargy, dehydration and polypnoea with slightly increased inspiratory effort. Diagnostic investigation revealed severe hypercalcaemia (cats 1-3), renal azotaemia (cats 1 and 3) and a radiologically generalised miliary interstitial pattern of the lungs (cats 1-3) attributable to hypervitaminosis D caused by ingestion of commercial cat food. Cat 3 was euthanased. Cats 1 and 2 were treated with isotonic saline solution (180 ml/kg IV daily), sucralfate (30 mg/kg PO q12h), terbutaline (only cat 1: 0.1 mg/kg SC q4h), furosemide (1.5 mg/kg IV q8h) and tapering doses of prednisolone. Cat 2 was normal on day 14. Cat 1 had stable renal disease and was followed up to day 672. The radiological generalised military interstitial pattern of the lungs had improved markedly. Excessive cholecalciferol-containing commercially available cat food poses a great hazard to cats. Supportive treatment may result in long-term survival and improvement of radiological pulmonary abnormalities.
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PMID:Vitamin D intoxication caused by ingestion of commercial cat food in three kittens. 2329 72

Vitamin D intoxication in infancy leads to acute hypercalcemia and subsequent hypercalcuria with nephrocalcinosis. Strategies used for patients with vitamin D intoxication are unsatisfactory and associated with prolonged periods of hypercalcemia. We present a 5-month-old infant who had failure to thrive, refusal to feed, delayed motor development, truncal hypotonia, and dehydration. She had high plasma sodium and osmolality with low urine osmolality, and did not respond to intravenous desmopressin administration. She was diagnosed as nephrogenic diabetes insipidus due to hypercalcemia caused by hypervitaminosis D, and was treated with hydrochlorothiazide 2 mg/kg twice daily, and hydration.
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PMID:Hypervitaminosis D causing nephrogenic diabetes insipidus in a 5-month-old infant. 2390 13


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