Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sarcoidosis of bone has been observed in 29 patients for up to 43 years. It was present in the hands and/or feet in 26 patients, in the nasal bone in three and once each in the hard palate and temporal bones. There were three types of bone lesion: (a) lytic in 25 patients; rounded cortical or medullary lesions ranging in size from 1 mm to 1 cm in diameter, which on healing left a residual punched-out 'cyst'; (b) permeative in nine patients; these showed progressive cortical 'tunnelling' with remodelling of trabecular and cortical architecture; (c) destructive in three patients: rapidly progressive with pathological fractures and secondary joint surface involvement. Soft tissue swelling preceded the radiological abnormality for up to four yearts in 10 patients, accompanied it twice, followed it once and was absent on 16 (55 percent) occasions. Bone involvement was usually an incidental finding when sarcoidosis presented elsewhere. Other features included intrathoracic sarcoid (86 per cent), lupus pernio (48 per cent), skin plaques (41 per cent), ocular inflammation (48 per cent), nasal mucosal disease (24 per cent), lymphadenopathy (24 per cent), hepatomegaly (13 per cent), splenomegaly (10 per cent), and parotid enlargement (10 per cent). Pulmonary infiltration with or without lymphadenopathy was observed in three fifths and hilar adenopathy alone in one third of patients. Abnormalities in chest radiographs of patients with bone sarcoid resolved in only 20 per cent. Hypercalciuria was noted in one and hypercalcaemia in the other two patients with bone distruction.
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PMID:Sarcoidosis of bone. 86 75

A 31-year-old woman presented with hypercalcemia, anemia, azotemia, and splenomegaly. Extensive laboratory studies failed to establish the diagnosis, though sarcoidosis seemed likely on the basis of marked hypercalciuria and restrictive lung disease. Conjunctival biopsy showed noncaseating epithelioid granulomas, confirming the clinical diagnosis. Conjunctival biopsy deserves consideration in the evaluation of the patient with unexplained hypercalcemia or other findings suggestive of saroidosis.
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PMID:Conjunctival biopsy in unexplained hypercalcemia. 722 48

We have shown that Walker 256/S mammary carcinoma caused osteoporosis-like changes in young female rats, accompanied by low serum estradiol and hypercalciuria without changes in the serum levels of calcium, phosphorus, and parathyroid hormone-related peptide. In this study, we investigated the cause of bone loss after Walker 256/S inoculation into female 6-week-old Wistar Imamichi rats, focusing on the sex hormone balance in the host animal. Walker 256/S-bearing rats showed characteristic osteoporosis, with a significant increase in spleen weight and a significant decrease in uterine weight by 14 days after s.c. tumor inoculation. In the in vitro bone marrow culture, mineralized nodule formation ability decreased according to the time after tumor inoculation, and tartrate-resistant acid phosphatase-positive multinucleated cell formation increased at 7 days after tumor inoculation, but it began to decrease at 14 days after tumor inoculation. This indicates that after inoculation with Walker 256/S tumor, the progenitors of osteoblasts and ostroclasts lost their balance in the bone turnover, resulting in bone resorption. On the other hand, Walker 256/S carcinoma expressed luteinizing hormone-releasing hormone (LH-RH) mRNA, and in Walker 256/S-bearing rats, the serum LH-RH level increased significantly from 3 days after tumor inoculation, whereas in the healthy control rats, this level was very low. Consequently, the serum levels of follicle-stimulating hormone, luteinizing hormone, estradiol, and progesterone were significantly lower in the tumor-bearing rats than in the healthy control rats. Because the LH-RH gene is located in the long prolactin release-inhibiting factor (PIF) gene and mRNA amplified by reverse transcription-PCR in this study contained whole LH-RH and a part of PIF, the Walker 256/S tumor is thought to express PIF. Indeed, the serum prolactin level decreased in tumor-bearing rats. The serum level of growth hormone, one of the other pituitary hormones, was not changed. Moreover, the level of an osteolytic cytokine, tumor necrosis factor alpha, increased in the serum of Walker 256/S-bearing rats, although this may be a result of the immune response of the host animal to tumor growth as well as an enlarged spleen. In conclusion, the Walker 256/S tumor lowers estrogen secretion through ectopical oversecretion of LH-RH, and then osteolytic cytokines, such as tumor necrosis factor alpha, increase in tumor-bearing rats, escape the control of estrogen, and activate osteoclasts, resulting in bone loss in a short period.
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PMID:Walker 256/S carcinosarcoma causes osteoporosis-like changes through ectopical secretion of luteinizing hormone-releasing hormone. 1009 51

From an association of nearly 50 years, the author had diagnosed biopsy proven 200 cases of sarcoidosis in Eastern India during the past three decades. It appears that most of these cases follow a distinct clinical pattern and presentation. The clinical course and prognosis differ considerably from that seen in Caucasians, Afro-Americans, South-African Bantus and Japanese. Males, above 40 years, coming largely from atopic and wealthier section of society (a particular business community with physicians, nurses with their families and other professionals). Patients present with constitutional symptoms (97%) like slow unrecognized fever with little malaise (fever-malaise dissociation in 70%), arthralgia (61%) or lone-myalgia (13%), appreciable loss of weight (33%), irritability, anorexia, respiratory symptoms (93%) like cough, dyspnea, etc., hepatomegaly (43.5%), splenomegaly (32.5%), lymphadenopathy (22%) with raised ESR (91%), hypergammaglobulinaemia (41.5%), hypercalciuria (40.5%), raised serum angiotensin converting enzyme (SACE) in 70.5% advance disease in chest radiograph (68%), positive 67-gallium scan and clinico-radiological dissociation in 81% (alarming looking chest radiograph with few physical signs). Course and prognosis also differ from the West. A different treatment schedule, avoiding oral prednisolone, has been found quite effective.
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PMID:Sarcoidosis: a journey through 50 years. 1243 38

Sarcoidosis is a granulomatous disease of unknown origin characterized by the trend to spontaneous remission in the great number of the patients. Some patients require treatment with corticosteroids, which have significant toxicity. The aim of this study was to assess the prognostic role of many different parameters in the patients with sarcoidosis. 162 sarcoidosis patients were introduced to prospective study: 22 patients were treated because of deterioration in lung function or serious ocular disease and 140 were observed without therapy for two years. We assessed the age, sex, symptoms, serum activity of angiotensin converting enzyme (SACE), hypercalcaemia, hypercalciuria, splenomegaly and HRCT findings at the time of diagnosis. We analyzed the frequency of spontaneous remission of sarcoidosis in the untreated patients. We investigated correlation between these parameters and remission. Statistical comparisons were made with chi-square test. We also applied the k nearest neighbor (k-NN) rule and the leave one out method adopted from the statistical pattern recognition theory. From many different parameters only acute symptoms (erythema nodosum, fever, arthritis) and serum activity of ACE might be helpful in predicting prognosis in the patients with stage I of disease. The patient's age at onset less than 36 years, the appearance of erythema nodosum and ground-glass opacities on HRCT scans portend an excellent prognosis in the patients with stage II of disease.
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PMID:[Prognostic value of some clinical, radiological, laboratory and functional parameters in sarcoidosis]. 1288 67

The historical background to the disorder is unfolded. It was originally regarded as a dermatological curiosity, and later sarcoidosis was recognized as a disorder diffusely involving most tissues of the body. Clinical syndromes described include those presenting to the dermatologist, ophthalmologist, chest physician and radiologist, gastroenterologist and neurologist. Tissues commonly involved are lungs, lymph nodes, eyes, skin and bone in that order of frequency. Granulomatous uveitis in the presence of skin lesions should always arouse the suspicion of sarcoidosis; ocular and bone involvement are frequently associated with lupus pernio, whereas lymphadenopathy and splenomegaly are more commonly linked with plaques and maculo-papular eruptions. Bone cysts are rare in the absence of skin lesions, so routine radiography of hands and feet is of little diagnostic value. The basic criteria for establishing the diagnosis of sarcoidosis are twofold: (a) Suggestive clinical and/or radiological features with evidence of generalized involvement. (b) Histological proof of sarcoid tissue from at least one tissue. Evidence of one without the other is insufficient, for clinical or radiological manifestations alone present too wide a differential diagnostic problem and, conversely, isolated histological evidence of sarcoid tissue could be construed as a local sarcoid-tissue reaction. Histological confirmation is obtained whenever possible from accessible involved tissues (skin or lymph node). Otherwise blind biopsy of liver, scalene lymph node or gastrocnemius muscle is employed, or alternatively the Siltzbach-Kveim test is performed. It is a safe, simple and specific outpatient skin test, which provides histological confirmation in three-quarters of patients with sarcoidosis. The natural history of sarcoidosis and the response to treatment vary with the type of disease--namely subacute (transient) or chronic (persistent) forms of sarcoidosis. The only treatment which favourably influences clinical, or radiological or histological features of the disease is corticosteroid therapy. Indications for treatment are: ophthalmic involvement, steadily worsening chest radiograph, breathlessness, persistent hypercalciuria, disfiguring skin lesions, neurological involvement, disordered glandular function.
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PMID:Sarcoidosis. 1288 95

Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phosphorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diagnosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.
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PMID:Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. 1897 85

Two sisters presented with lower limb deformity and difficulty in walking without support. Both had short stature; however, neurodevelopment and secondary sexual characters were normal. Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser-Fleischer (K-F) rings. Diagnosis of Wilson's disease was confirmed with low serum copper and ceruloplasmin levels. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal renal tubular acidosis. Both patients were started on copper chelation therapy and showed gradual radiographic improvement in osteopaenia.
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PMID:Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. 2268 76