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)

One hundred and twenty-five cases of biopsy proven sarcoidosis have been found during a prospective study since 1972 in Calcutta, Eastern India. The presentation, clinical course and radiological features are considerably different from those seen in the West. Elderly males over 40 years are more prone. Low grade fever, cough, dyspnoea, arthralgia are common symptoms while hepatosplenomegaly, hypercalcaemia, hypercalciuria and hyperglobulinaemia are frequent signs. Nearly 60% are MT negative (up to 100 TU). Serum angiotensin converting enzyme and high lymphocyte count in bronchoalveolar lavage fluid are usual findings in active disease. Chest X-ray usually shows mottled opacities or fibrosis in 60% cases. Clinico-radiological dissociation (i.e. remarkable dissociation between the alarming-looking chest X-ray and scanty physical signs and symptoms in chest) was a very remarkable feature in this series. Treatment with oral steroid or steroid aerosol with oxyphenbutazone and chloroquine give equally good results initially. However, most cases tend to relapse inspite of adequate initial treatment. The pattern of the disease is similar almost all over India with minor regional differences like more erythema nodosum and eye involvement in Chandigarh in the extreme north (which could also have been due to case selection). The pattern from Northern India (Delhi) and Western India is nearly similar to our figures.
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PMID:Sarcoidosis in India: a review of 125 biopsy-proven cases from eastern India. 234 18

We present a case of bone marrow granulomas in a 64-year-old West Indian man who presented with severe leucopenia, anaemia, thrombocytopenia, hepatosplenomegaly, hypercalcaemia, hypercalciuria, elevated angiotensin converting enzyme level and reticulo-nodular shadows on chest X-ray. Bone marrow biopsy revealed numerous non-caseating epithelioid granulomas. A diagnosis of sarcoidosis was made and he was treated with prednisolone 60 mg daily for four weeks and the dose was subsequently reduced to 30 mg daily. Eight months follow-up revealed persistent pancytopenia. Bone marrow granulomas are rare and, when they occur, sarcoidosis is an uncommon aetiology. This case illustrates that severe leucopenia may occur in sarcoidosis and may present therapeutic difficulties.
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PMID:Severe refractory sarcoidosis in a 64-year-old man with persistent leucopenia. 1280 60

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

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