Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A sixty nine-year-old woman was admitted to the hospital because of further examination of hypercalcemia. On July 1990, she complained of general fatigue and loss of appetite. She was pointed out to have hypercalcemia (15.1mg/dl), urolithiasis, and renal insufficiency. CT films of the chest showed swelling of the mediastinal lymphnodes and CT of the abdomen nephrocalcinosis. Ga-scintigraphy demonstrated an abnormal accumulation of gallium in the mediastinum. Levels of the parathyroid hormone was normal. Levels of the serum calcium (13.7mg/dl), angiotensin converting enzyme (30.4IU/L) and 1.25 (OH)2D (87PG/ml) were elevated. Giant cells were found in the biopsy specimen of the lung. A significant relationship between the serum calcium and creatinine were observed (r = 0.76, p < 0.02). Proximal fractional reabsorption of sodium showed to be suppressed (47.7%), and distal fractional reabsorption of sodium showed to be normal (88.4%). From these findings hypercalcemia and urolithiasis was suggested to result from sarcoidosis. The hypercalcemia and renal insufficiency improved with corticosteroid therapy.
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PMID:[A case of sarcoidosis with hypercalcemia, urolithiasis, nephrocalcinosis and renal insufficiency]. 148 16

The majority of patients with sarcoidosis in this large series have had a number of biochemical investigations performed. Abnormal calcium metabolism was demonstrated in 40% of the patients but permanent renal damage due to nephrocalcinosis as a result of persistent derangement of calcium metabolism was rare. Raised immunoglobulin levels were seen. Half the white and two-thirds of the West Indian patients had elevated IgG levels. Abnormal immunoglobulin levels carried no obvious diagnostic or prognostic significance. Raised alkaline phosphatase levels reflected space-occupying hepatic granulomas and occurred in 23% of patients. Serum angiotensin converting enzyme (SACE) was elevated in half the patients. The highest SACE activity was found in patients with severe parenchymal lung infiltration due to sarcoidosis, and the lowest levels in those with inactive disease or after successful management with steroid drugs. SACE levels were not significantly elevated in four other granulomatous conditions: Crohn's disease, primary biliary cirrhosis, Hodgkin's disease, and active tuberculosis.
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PMID:Biochemical findings in sarcoidosis. 624 57

Hypertension has been anecdotally reported in children with familial hypophosphatemic rickets (XLH). To better identify and characterize the clinical and laboratory features of hypertensive XLH children, we reviewed the medical records of 41 XLH children, all treated with phosphate and vitamin D analogues. Eight children, who were originally normotensive, developed hypertension during the 2nd decade of life. At diagnosis of hypertension all had persistent secondary/tertiary hyperparathyroidism (HPTD), defined as high serum parathyroid hormone (PTH) for 12 months or longer. Seven had nephrocalcinosis (NC). Analysis of data showed that of 11 children with HPTD, 8 developed hypertension compared with 0 among 30 without HPTD (P<0.001). Of 40 children studied, 18 had NC that was significantly associated with both HPTD (P<0.01) and hypertension (P<0.025). At diagnosis of hypertension, serum calcium was elevated in 2. Plasma renin activity was high in 3 of 4 patients in whom it was measured. Doppler ultrasonography or renal scan was normal in the 5 children studied. Early echocardiography showed left ventricular hypertrophy in only 2 of 5 children studied. In 3 patients who underwent parathyroidectomy, hypertension persisted and 1 progressed to renal failure. Serum creatinine remained normal in all others. Successful treatment of hypertension consisted of beta-adrenergic blockers, angiotensin converting enzyme inhibitors, and Ca channel blockers as monotherapy or in combination. We conclude that hypertension in treated XLH children is closely associated with HPTD. Emphasis should therefore be placed on prevention of the development of HPTD as a complication of XLH treatment, and close monitoring for hypertension in those who do develop HPTD.
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PMID:Hypertension in hypophosphatemic rickets--role of secondary hyperparathyroidism. 1257 6

Type 1 renal tubular acidosis (RTA), or distal RTA (dRTA), is a disorder of renal tubular acidification, which is generally asymptomatic but may rarely present as hypokalemic paralysis. Here, we report the case of a young male who presented with sudden onset weakness of all 4 limbs and a 2-month history of swelling of the legs. An investigation revealed hypokalemia, metabolic acidosis, and nephrotic syndrome. Additional analyses revealed normal anion gap metabolic acidosis with a positive urine anion gap and dRTA. Renal biopsy showed evidence of membranous nephropathy (MN). The patient's weakness improved with potassium supplements. Normalization of the serum potassium level and disappearance of proteinuria were established with an ACE inhibitor and potassium supplementation. This case is an unusual combination of dRTA with MN coupled with the rare presenting symptoms of hypokalemic paralysis and medullary nephrocalcinosis.
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PMID:A Rare Case of Type I RenalTubular Acidosis with Membranous Nephropathy Presenting as Hypokalemic Paralysis. 2389 45