Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The autopsy findings of two cases of infantile hypophosphatasia are described and compared with those of 16 previously reported cases. Histochemical and biochemical tissue analysis for alkaline phosphatase showed a marked decrease in activity in liver, kidney, and bones. However, intestinal alkaline phosphatase possessed normal or slightly elevated activity. Nephrocalcinosis is a frequent complication and its development depends on hypercalcemia and length of survival of the patient. Electron microscopic findings are illustrated, and a mechanism for the development of nephrocalcinosis is proposed. For the first time, marked elevations of parathyroid hormone was detected. This finding, coupled with the extreme difficulty in locating the parathyroid glands in cases of hypophosphatasia, is enigmatic. Areas for furture investigation are suggested.
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PMID:Hypophosphatasia-study on two autopsy cases. 119 30

The prevention of osteopenia and frequency of renal and intestinal side effects of mineral supplementation was studied in 24 preterm infants with birth weight under 1,500 g, prospectively (gestational age 26-34 weeks). Calcium intake varied from 2.5 vs. 3.75 vs. 5 mmol/kg/day, phosphate was offered in dose of 2.5 mmol/kg/day. At the expected birth date 40% of infants with low calcium dose showed an activity of serum alkaline phosphatase greater than five times the maximum adult normal value which is defined as a reliable marker; for osteopenia no infant with medium or high calcium intake reached this critical value (p = 0.03). Medium and high calcium doses resulted in an increased risk for hypercalcuria (25 vs. 50%) (p = 0.03). Half of these infants developed typical signs of nephrocalcinosis on ultrasound examination. No significant difference of fecal fat content was observed with increased calcium intake; but more episodes of abdominal distension occurred during the first days of high calcium supplementation (p = 0.03). We conclude, that a calcium intake of 3.75 mmol/kg/day in combination with phosphate 2.5 mmol/kg/day is sufficient for adequate bone mineralization on a low level of side effects. Calcium excretion in urine has to be observed for early diagnosis of nephrocalcinosis.
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PMID:[Efficacy and side effects of differential calcium and phosphate administration in prevention of osteopenia in premature infants]. 212 76

Kidney histology of five infants who died during or immediately after treatment with adrenocorticotrophic hormone (ACTH) showed severe tubular and interstitial calcinosis. We therefore studied serum concentrations of calcium, inorganic phosphate, and parathormone, serum activities of alkaline phosphatase, and urinary excretion of calcium, inorganic phosphate, and cyclic adenosine monophosphate (cAMP) in 16 other children with infantile spasms before, during, and after 6 weeks of treatment with ACTH. During the treatment the following observations were made: hypocalcaemia developed in three infants; the mean daily urinary excretion of calcium in the group increased threefold and seven infants had hypercalciuria; the excretion of phosphate increased but its tubular reabsorption remained stable; and in most infants serum parathormone and urinary cAMP excretion increased, and in four infants they increased to supranormal concentrations. These biochemical changes were reversible in most infants. Radiographs suggested loss of bone mass by 3-4 weeks of treatment, with rapid recovery after treatment. We conclude that infants treated with ACTH for infantile spasms are at risk of suffering disturbance in calcium and phosphate homeostasis, which leads to nephrocalcinosis.
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PMID:Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. 301 35

A 59 year-old patient had lumbago and pain in hip joints, knees, and ribs of long duration. Severe hypophosphatemia and high serum ionized calcium were found in spite of normal level of total serum calcium. The serum parathyroid hormone and alkaline phosphatase levels were elevated, and diffuse demineralization of the bones and renal stones were found by x-ray examination. Parathyroid adenoma was diagnosed from the subtraction image of the 99mTc O-4 and 201Tl-Cl2 scintigrams. Osteomalacia was demonstrated by bone biopsy at the right iliac crest. A right lower parathyroid adenoma of 2.0 X 1.8 cm, weighing 4.0 g was removed. The long standing phosphate depletion and hypophosphatemia, due to hyperparathyroidism causing renal damage with nephrocalcinosis and reduced synthesis of active vitamin D, and milk tolerance due to gastroduodenostomy were probably responsible for producing the clinical picture of normocalcemic hyperparathyroidism complicated with osteomalacia.
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PMID:A case of normocalcemic primary hyperparathyroidism with osteomalacia. 383 67

Hypophosphatasia represents an inborn enzymatic deficiency characterized by a reduced activity of alkaline phosphatase in serum and tissue and an increased urinary excretion of phosphoethanolamine. 278 cases have been described until the end of 1980. Based on the age of manifestation and the predominant clinical findings the following classification is possible: The prenatal form (49 cases) with caput membranaceum, skeletal deformities and respiratory distress has a mortality of 100%. The early infantile form (94 cases) shows rickets-like osseous anomalies, dystrophy, craniostenosis, nephrocalcinosis, mortality amounting to 40%. Diagnostic features of the infantile-juvenile form (112 cases) are premature loss of deciduous teeth, bone deformities, rickets-like findings, and short stature. Mortality is only 1%. The adult form (23 cases) often remains undiscovered and has a good prognosis. It presents with pseudofractures and pains in the bones as chief symptoms. Heredity is autosomal recessive in all four types of hypophosphatasia. Possibly in the adult form there is an additional autosomal dominant inheritance. Alkaline phosphatase deficiency affects all tissues excepting the intestinal isoenzyme. Urinary excretion of phosphoethanolamine is elevated. Values for calcium and inorganic phosphorus in serum are usually normal or only slightly increased. Marked hypercalcemia is observed in severely diseased patients affected by the early infantile form. In these cases hypercalcemia often leads to nephrocalcinosis and renal insufficiency. Since alkaline phosphatase is equally active as pyrophosphatase, reduced phosphatase activity induces an accumulation of pyrophosphate in serum and its increased excretion in urine. The precise pathogenetic mechanisms of hypophosphatasia are still unknown. Possibly, the accumulation of pyrophosphate implies a disorder of calcification. Postnatal diagnosis is based on clinical findings in association with decreased alkaline phosphatase activity and increased phosphoethanolamine excretion. For the detection of heterozygotes additional biochemical markers should be tested. These include the determination of alkaline phosphatase in leucocytes and cultured skin fibroblasts, the calculation of tubular phosphate reabsorption and the analysis of pyrophosphate and pyrophosphatases. The difficulty in ascertaining the carrier state is that the measurement of a single parameter may give normal results.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Congenital hypophosphatasia]. 614 51

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

The ability of three diets to produce nephrocalcinosis in female rats has been compared after 30, 60 and 90 days of feeding. Severe nephrocalcinosis with associated tubular damage was induced with a standard laboratory maintenance low-protein diet and with a diet containing a single-cell protein (Pruteen) but not with a casein-containing diet. Both the Pruteen and casein diets were high-protein diets. The development of the lesion was equally rapid following feeding of either the laboratory maintenance diet or the Pruteen diet. Nephrocalcinosis was present, with body kidneys similarly affected, at each 30-day interval with either diet. A severe degree of nephrocalcinosis was associated with widespread renal damage although signs of tubular regeneration and repair were evident at 30 days. Nephrocalcinosis induced by the Pruteen diet was accompanied by enlargement of the kidney. Renal function was assessed at each time by the measurement of urine volume, specific gravity and protein content, inulin clearance, and the excretion of the urinary enzymes N-acetyl-beta-glucosaminidase and alkaline phosphatase. Despite extensive calcification and some tubular damage, renal function was unimpaired, reflecting the capacity of the functional reserve of the kidney.
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PMID:The pathogenesis and effect on renal function of nephrocalcinosis induced by different diets in female rats. 653 63

From the age of 3 months, six groups of rats consisting of six animals each were fed one of three types of diet with either 15% lactose or dextrose. The diets used were a control diet containing 0.6% calcium and 0.45% phosphorus and two high-phosphorus (1.3%) diets with either a normal (0.6%) or a low (0.2%) calcium content. Whereas calcium retention and femur mass appeared to be unaffected, feeding the high-phosphorus diets resulted in significant (P less than or equal to 0.05 or P less than or equal to 0.01) biochemical changes including: decreased plasma phosphorus almost throughout the whole of the study; increased plasma alkaline phosphatase, and urinary total hydroxyproline after 17 and 42 weeks; nephrocalcinosis; depressed urinary calcium, and reduced femur density. With the excretion of nephrocalcinosis and depressed urinary calcium, these changes were more marked if the calcium content of the diet was low than when it was normal, and this difference was associated with a significant (P less than 0.01) inhibiting effect of dietary calcium on the intestinal absorption and urinary excretion of phosphorus. Although lactose, as compared with dextrose, significantly (P less than 0.01) improved the intestinal absorption and retention of calcium during body weight gain, which was reflected by an increased femur mass after 42 weeks, this sugar did not reduce the detrimental effects on bone and soft tissue resulting from feeding the high-phosphorus diets. The results of the study in line with the induction of nutritional secondary hyperparathyroidism and increased bone turnover in rats fed high-phosphorus diets and indicate that lactose-stimulated calcium absorption will not prevent or diminish the biochemical changes associated with this disease; the results also stress the significance of the calcium content of the diet as a factor that may protect the body against excessive dietary phosphorus.
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PMID:Nutritional interrelationships between calcium, phosphorus and lactose in rats. 738 83

Enzymatically depolymerized sodium carboxymethylcellulose (CMC-ENZ) is a new functional food ingredient which has a lower molecular weight and viscosity than regular sodium carboxymethylcellulose (CMC). Both compounds are known not to be absorbed to a significant extent, and the human safety of CMC as a thickening agent and stabilizer in food is well established. In the present study, the subchronic oral toxicity of CMC-ENZ was examined and compared with that of CMC in Wistar rats. Seven groups of 20 rats/sex were fed diets with 0 (controls), 2.5, 5 and 10% CMC and 2.5, 5 and 10% CMC-ENZ for a 3-month period. There was only one death that was unrelated to the treatment. Water intake, urine production and urinary sodium excretion increased with increasing doses of CMC and CMC-ENZ due to their sodium content of about 7-8%. The treatment-related occurrence of diarrhoea and caecal enlargement in the mid- and high-dose groups, a slight increase of plasma alkaline phosphatase, and increased urinary calcium and citrate excretions were considered to be generic effects that typically are observed in rodent studies with low digestible carbohydrates. The increased occurrence of nephrocalcinosis and hyperplasia of the urothelial epithelium in some of the treated groups was interpreted as an indirect consequence of a more alkaline urine coupled with an increased calcium excretion. As the frequency and severity of all these changes did not differ between corresponding CMC and CMC-ENZ dose groups, it is concluded that the two products have a similar toxicological profile.
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PMID:Subchronic oral toxicity study with regular and enzymatically depolymerized sodium carboxymethylcellulose in rats. 759 May 37

Six cases of tubular disorder of antenatal onset responsible for biological manifestations characteristic of Bartter syndrome and severe hypercalciuria are reported. In all six cases, severe hydramnios occurred during pregnancy between the 26th and 28th week after the last menstrual period. All six patients were born prematurely; gestational age ranged from 20 to 35 weeks. Major polyuria with dehydration occurred immediately after birth. The amounts of water and sodium needed to compensate urinary losses ranged from 280 to 370 ml/kg/day and 25 to 43 mmol/kg/d, respectively, during the first two postnatal months. Decreased serum potassium levels and increased plasma levels of renin and aldosterone were seen in all six patients. Increased urinary excretion of calcium was evidenced during the first postnatal week in three cases. Urinary calcium excretion in the six patients ranged from 15 to 30 mg/kg/d. Nephrocalcinosis developed in all six patients and two patients developed urinary lithiasis. One patient died at one month of age from necrotizing enteropathy. The five remaining patients gradually developed severe growth failure with measurements between 4 and 5.5 SDs below the mean. These five patients had evidence of hyperparathyroidism including increased serum levels of parathyroid hormone (5/5), increased serum alkaline phosphatase activity (4/5), and roentgenographic bone changes (1/5). Ionized calcium assays performed in three of the five patients disclosed low values (range 1.25-1.47 mmol/l; mean = 1.35; normal values = 1.42-1.62), although total serum calcium levels were normal or high (range 2.16-2.98 mmol/l; mean 2.61; normal values = 2.45-2.65) probably as a result of chronic dehydration.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Antenatal form of Bartter's syndrome]. 845 38


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