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

According to the Subcommittee on Classification and Definition of Sarcoidosis, it is a multisystem granulomatous disorder of unknown etiology. It most commonly affects young adults and presents most frequently with bilateral hilar adenopathy, pulmonary infiltrates, and skin or eye lesions. The diagnosis is established when clinical findings and appropriate x-ray findings are supported by tissue biopsy specimens in which noncaseating epithelioid cell granulomas are found. Immunologic features of the disease include depression of delayed hypersensitivity reactions, suggestive of impaired cell mediated immunity, and increased or abnormal immunoglobulin levels. Hypercalciuria may occur, with or without hypercalcemia. The course and prognosis of the disease correlate with the mode of onset. An acute onset in the presence of erythema nodosum indicates a self-limited course with spontaneous resolution, whereas an insidious onset may be followed by a relentless course. Corticosteroids are useful when therapy is required, as well as to suppress inflammation and the occurrence of granulomatous changes.
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PMID:Sarcoidosis. 675 25

Sarcoidosis is a multisystemic disorder of unknown etiology that most commonly affects adults between 20 and 40 years of age. Patients with sarcoidosis frequently present with bilateral hilar lymphadenopathy and pulmonary infiltration, and often with ocular and skin lesions. The diagnosis is established when clinical and radiographic findings are supported by histologic evidence of non-caseating epithelioid cell granulomas found on tissue biopsy. Diagnosis of sarcoidosis requires exclusion of other causes of granuloma formation. Sarcoidosis is also characterized by distinctive laboratory abnormalities, including hyperglobulinemia, an elevated serum angiotensin converting enzyme level, evidence of depressed cellular immunity manifested by cutaneous anergy and, occasionally, hypercalcemia and hypercalciuria. Glucocorticoids remain the mainstay of therapy when treatment is required, although other anti-inflammatory agents are being used increasingly often.
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PMID:Sarcoidosis: a primary care review. 1049 6

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

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

This is a patient who presented as a fever of unknown origin (FUO) due to sarcoidosis-lymphoma syndrome. In favor of sarcoidosis was an elevated angiotensin-converting enzyme level, hypercalciuria, and bilateral hilar adenopathy on chest x-ray and chest CT. CT-guided biopsy of a hilar node revealed B-cell lymphoma. The differential diagnosis of sarcoidosis versus lymphoma and sarcoidosis-lymphoma syndrome as a cause of fever of unknown origin is discussed in this article.
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PMID:FUO due to sarcoidosis-lymphoma syndrome. 1502 78

A-14-year old boy, presented with a short history of excessive thirst and increased urine output. Clinical examination showed pallor, generalized lymphadenopathy and hepatosplenomegaly. For evaluation of his polyuric state he underwent routine laboratory investigations, including renal function test, acid-base studies, urine analysis. Blood tests suggested hypokalemia, hypouricemia, hypocalcemia and hyperchloremia with normal liver and kidney function tests. The arterial blood gas analysis was suggestive of normal anion gap metabolic acidosis. Urine analysis was suggestive of hyperuricosuria, hypercalciuria and glycosuria with a positive urine anion gap. His hemogram showed pancytopenia with differential count showing 88% blasts. Bone marrow examination and flowcytometry confirmed the diagnosis of B cell acute lymphoblastic leukemia. Hence this case was atypical and very interesting in the sense that the Fanconi syndrome is very rare to be an initial presenting feature of acute lymphoblastic leukemia. The patient was started on oral as well intravenous supplementation with potassium, bicarbonate, calcium and phosphorus. Simultaneously, as per the modified BFM -90 protocol (four drug based regimen-Prednisolone, vincristine, daunorubicin, cyclophosphamide along with l-asparaginase), he was started on induction protocol. By the end of 3rd week of induction therapy, his urine output started normalizing and finally settled at the end of induction therapy. At present he is in the maintenance phase of chemotherapy.
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PMID:Fanconi Syndrome: A Rare Initial Presentation of Acute Lymphoblastic Leukemia. 2740 43

Sarcoidosis is an inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, eye and musculoskeletal system involvement. Hypercalcemia and hypercalciuria are important electrolyte imbalances resulting from sarcoidosis and sometimes they may cause nephrolitiasis and kidney failure. Hyponatremia, although being quite rare, has been found in some patients with sarcoidosis. Herein, we have reported a patient with neurosarcoidosis who presented with hyponatremia and responded well to corticosteroid treatment.
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PMID:Hyponatremia as presentation in a patient with neurosarcoidosis. 2772 Apr 11

Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.
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PMID:Hypercalcemia in children: three cases report with unusual clinical presentations. 2906 46