Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

---

Query: EC:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The administration of alkaline agents to a 16-year-old girl with severe renal tubular acidosis and osteomalacia caused an almost immediate rise of the urinary excretion of total hydroxyproline. The increment of the dyalizable fraction predominated over the nondyalizable component. Gradually serum phosphate and serum alkaline phosphatase increased whereas urinary calcium and magnesium and phosphate clearance declined. Serum PTH remained elevated throughout. We suggest that the correction of the metabolic acidosis might increase the transport of phosphate and calcium across the functional bone membrane leading to a rapid deposition of lime salts in the uncalcified matrix with a concomitant increase in bone collagen turnover.
...
PMID:Early skeletal effect of alkali therapy upon the osteomalacia of renal tubular acidosis. 127 May 79

Studies were conducted in a patient with idiopathic hypophosphatemic osteomalacia to delineate the roles of parathyroid hormone (PTH), vitamin D and renal tubular function. A 43-year-old woman presented with progressive skeletal pains resulting in severe incapacity. Workup revealed: hypophosphatemia with a low tubular maximal phosphate reabsorption per glomerular filtrate (TmP/GFR) of 1.05 mg/dl, normocalcemia, hypocalciuria, elevated alkaline phosphatase and glycinuria. PTH and urinary cyclic AMP (UcAMP) were normal, while calcitriol was low. Renal tubular acidosis or other transport defects were not present and no tumor was found. Biopsy was diagnostic for osteomalacia, and the patient responded to 1-alpha OHD3 and phosphate therapy. Hyperparathyroidism was ruled out by 1) normocalcemia persisting after 1-alpha OHD3 and calcium loading and 2) normal PTH and UcAMP challenged by phosphate supplements. Combined calcium and 1-alpha OHD3 administration resulted in hypercalciuria, decreased UcAMP and increased, but not corrected, TmP/GFR. These findings suggest that the osteomalacia was due to hypophosphatemia caused by a renal leak. PTH is only contributory to the phosphaturia. Low calcitriol level contributes to the osteomalacia directly and indirectly through impaired mineral absorption and, therefore, is also responsible for the hypocalciuria.
...
PMID:Metabolic studies in a patient with idiopathic hypophosphatemic osteomalacia. 334 50

To delineate the spectrum of clinical expressions of distal, type 1 renal tubular acidosis in children and to update progress in diagnosis, therapy, and prognosis, the medical records of 14 girls and 10 boys, seen over a 7 year period, who met the following criteria, were examined: persistent urinary pH more than 6, net acid excretion less than 70 microEq/min/1.73 m2, simultaneous serum total CO2 less than 17.5 mEq/1, and normal or mild impairment of the glomerular filtration rate. The mean age at diagnosis was 8 months. The presenting signs and symptoms were failure to thrive (50%), vomiting and/or diarrhea (37.5%), dehydration (12.5%), and poor feeding (8.3%). Mean values +/- SD of serum calcium (9.8 +/- 0.8 mg/dl), inorganic phosphate (5.6 +/- 0.8 mg/dl), and alkaline phosphatase (222.6 +/- 96.1 U/l) were normal. Hyperkalemia (serum potassium above 5.0 mEq/l) was present at diagnosis in 13 children. Type 4 renal tubular acidosis was ruled out by the inability to achieve a minimum urine pH. With a mean follow-up period of 28.1 +/- 25.3 months, after alkali therapy at 3.3-3.5 mEq/kg/day had been administered for at least 12 months, the growth parameters improved as follows: the percentile weight (mean +/- SD) increased from the initial 11.8 +/- 7.5 to the final 27.6 +/- 31.3 (p less than 0.003), and the length/height percentile increased from 11.5 +/- 7.3 to 29.7 +/- 24.2 (p less than 0.03). The relationship between urine calcium/creatinine ratio and serum total CO2 showed poor correlation.(ABSTRACT TRUNCATED AT 250 WORDS)
...
PMID:Renal tubular acidosis in children. Diagnosis, treatment and prognosis. 377 38

In a 47-year-old female patient distal renal tubular acidosis (dRTA) led to the development of osteomalacia following 13 years of the first episode of hypokalemic respiratory paralysis and 7 years of KHCO3 treatment. In spite of the musculoskeletal disability, intense bone pain and myopathy, the values of serum calcium (Ca++) and phosphorous (P) showed minimal deviation from the normal levels. The bone scintigraphy was the first indicator of the bone disease. As the disease progressed the serum level of alkaline phosphatase increased gradually and 25-hydroxyvitamin-D level decreased and bone scintigraphy showed multiple areas of increased radioisotope uptake. By that time the patient's condition deteriorated severely, she became almost unable to walk. Rocaltrol (calcitriol) therapy led to dramatic clinical improvement and the complete resolution of the laboratory values. When the alkaline therapy of dRTA does not prevent the development of osteomalacia, administration of a modern vitamin-D preparation can result complete healing of the bone disease.
...
PMID:[Effect of calcitriol, a vitamin D compound, in bone disease associated with distal renal tubular acidosis]. 797 Jun 47

Renal tubular acidosis (RTA) is a defect in urinary acidification in the absence of renal failure. All records of patients admitted to adult medical wards at the University Hospital USM (HUSM), Kelantan between 1986 to 1990 with the diagnosis of renal tubular acidosis were reviewed. Sixteen (16) patients were identified and fulfilled the diagnostic criteria. Their mean age at presentation was 28.9 +/- 0.74 years. The triad of muscle weakness, hypokalaemia and systemic metabolic acidosis were the characteristic features at presentation. Normal serum alkaline phosphatase and skeletal X-rays were noted. Their prognosis were generally good. Their mean serum bicarbonate and potassium on follow up were 17.84 +/- 0.35 and 3.82 +/- 0.05 mmol/L respectively. The importance of regular follow-up and long-term management is emphasised.
...
PMID:Renal tubular acidosis in Kelantan, Malaysia--a case review. 799 10

Nephrolithiasis is a common disorder and a significant problem because of incidence, recurrence and severe consequences. Stone disease is a surgical as well as a medical problem. Major progress has been made recently in understanding the pathophysiological disturbances responsible for stone formation as well as in the techniques of stone removal. The introduction of extracorporeal shock wave lithotripsy has considerably reduced the need for surgery. Improvements in methods of kidney stone removal have not diminished the need for the application of an effective prophylactic program. The internist should take a complete history of stone events (number, composition, location and outcome of stone event), family history of stones, dietary habits (focusing on the consumption of animal protein, salt and dairy products), medications and physical examination. Radiopaque stones should be documented by plane X-ray films. Ultrasonography should be used to image calculi that are nonopaque, and to easily distinguish them from masses such as tumour or blood clot. Computed tomography is also an excellent method for imaging nonopaque renal calculi but higher cost and radiation exposure are disadvantages [2]. Crystallographic analysis is the essential diagnostic procedure. If available, previous stones should also be examined. "In stone disease, everything is measurement. What the laboratory cannot tell you, you will not know; what it tells you in error, you will not correct by using your instincts, your medical experience, or your art [3]". Reliable diagnostic protocols are available for the identification of different causes of stones. The complexity of protocols depend on the severity of nephrolithiasis. Patients with a single stone episode undergo simple protocol, and extensive detailed protocol is used for patients with recurrent stone disease, or patients at increased risk. Simple protocol, besides the already mentioned history of stone events, radiographic investigation and crystallographic analysis, includes serum urea, creatinine, uric acid, sodium, calcium, phosphorus and protein levels, urinary pH and volume, urine samples for culture and urinary calcium, uric acid, oxalate and citrate. Extensive metabolic evaluation includes simple protocol, determination of serum levels of alkaline phosphatase, parathyroid hormone, thyroxin, magnesium. A 24-h collection of urine specimen is analysed for urea, creatinine, uric acid, calcium, phosphate, sodium, magnesium, oxalate and citrate. Extensive protocol includes specialized evaluation tests [5]. Urinary acidification test is important for detecting distal renal tubular acidosis. Two 24-h urine specimens are collected while the patient is on the regular diet. The patient is then placed on a restricted diet (400 mg of calcium and 100 mEq of sodium) for a week, and another 24-h urine sample is collected. After that fasting and calcium load tests are performed (Sheme 1). Fasting urinary calcium is used to detect renal calcium leak, and calciuric response to oral calcium load provides an indirect measure of intestinal calcium absorption. Diagnostic criteria for major forms of stone disease [8] are presented in Table 1. There are some still unsolved questions: does time after passage of stones or urological intervention influence the frequency of urine abnormalities that can be detected; are there differences in 24-h urine composition between weekdays and weekends: what is the prevalence of the most important urinary risk factors of recurrent idiopathic calcium nephrolithiasis: do male patients differ from females with respect to urinary risk factors or recurrent idiopathic calcium nephrolithiasis? [7].
...
PMID:[Functional evaluation in patients with kidney calculi]. 986 14

Metabolic acidoses are diseases causing many diagnostic and therapeutic problems. Compensated metabolic acidosis can be unrecognised for a long time. This refers especially to isolated renal tubular acidosis (RTA). Unrecognised RTA causes calcium and phosphorus balance disturbances with clinical signs of improper bone mineralization. It happens that some patients with mentioned problems are "treated" as rachitic and take high doses of vitamin D. As a result, serum calcium and phosphates as well as urine calcium increase, without the satisfied influence on bone mineralization. We present a case of a 3.5 months old baby, who was "treated" as ricket in vitamin D deficiency. This baby was "cured" with high doses of cholecalciferol (0.0875 mg/24h for 2 weeks, then 0.175 mg/24h for 3 weeks) because of craniotabes. This treatment was carried on without any metabolic tests and caused the following disturbances: 25(OH)D serum level - 102.7 ng/ml (normal 11-54), 1,25(OH)2D serum level - 39.5 pg/ml (normal 15-70), calcaemia 2.7-2.85 mmol/l, phosphataemia 2.1 mmol/l. In this time the considerable hipercalciuria (second morning urine sample Ca/cr ratio 2.06 mmol/mmol) occurred. The other laboratory test showed as follows: serum albumins 4.5 g/dl, alkaline phosphatase 188 U/l, acid phosphatase 10.7 U l, Cl- 114.9 mmol/l, Na 146 mmol/l, K 4.8 mmol/l, HCO3a 16.6-20.1 mmol/l and pCO2 3.63-3.85 kPa, serum anion gap 11 mEq/l; pH of morning urine 6.5-7. These results suggested the presence of distal RTA aside from symptoms of vitamin D overdosage. The high serum levels of calcium and phosphates, craniotabes, rather low serum alkaline phosphatase activity and presence of metabolic acidosis the symptoms after the normalisation of calcium and phosphorus balance suggested that the distal RTA had been prior to calcium disturbances.
...
PMID:[Vitamin D3 overdosage due to rashly diagnosed rachitis in a child with distal tubular acidosis]. 1457 20

In order to examine the etiology of refractory rickets, we evaluated the case records of patients presenting between 1990 and 2002. Subjects with impaired renal functions were excluded. Of 131 patients, 25.9 % each had hypophosphatemic rickets and distal renal tubular acidosis (RTA), 19.6 %vitamin D dependent rickets (VDDR), 11.3 % proximal RTA, 9.1 % liver disease and 6.1 % malabsorption. A significant proportion of patients with VDDR and proximal RTA showed deformities in the first year of life, whereas those with distal RTA and hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs; hypercalciuria was found in 4. Distal RTA was associated with marked rickets and normal levels of alkaline phosphatase. Hypophosphatemia and low tubular reabsorption of phosphate, though characteristic of hypophosphatemic rickets, was also seen in patients with VDDR (19.2%) and distal RTA (17.6 %). Our findings suggest that application and interpretation of appropriate investigations are useful in determining the cause of non-azotemic refractory rickets allowing initiation of specific therapy.
...
PMID:Non-azotemic refractory rickets in Indian children. 1569 54

Osteomalacia is characterized by defective mineralization and low bone mineral density (BMD). Clinical and biochemical improvements typically occur within a few weeks of starting treatment, though the bone mineral deficits may take longer to correct. We report a case series of 26 patients with frank osteomalacia (pseudo fractures on X-rays, elevated serum total alkaline phosphatase and parathyroid hormone, normal/low serum calcium and phosphorus, and low serum 25-hydroxy vitamin D) who were followed-up for changes in BMD during treatment using dual- energy X-ray absorptiometry (DXA). There were 23 patients with nutritional vitamin D deficiency, 2 with malabsorption syndrome, and 1 with renal tubular acidosis. All patients were treated with vitamin D and calcium; the 3 patients with associated disorders were treated accordingly. At baseline, there was low BMD at all sites tested. The rate of increase in vertebral and hip BMD was rapid in the initial few months, which subsequently slowed down. In contrast to the large increases in BMD at the femoral neck and lumbar spine, the radial BMD did not recover. At the time when most patients had marked clinical and biochemical improvement (2.8+/-1.4 mo), the vertebral and hip BMD, although improved from baseline, had not completely recovered. Bone loss at the forearm (cortical site) appears to be largely irreversible. Although the clinical correlates of these changes are presently unclear, BMD measurements are useful in assessing the initial severity of bone loss as well as the response to therapy.
...
PMID:Changes in bone mineral density following treatment of osteomalacia. 1673 41

We report a patient with renal tubulointerstitial fibrosis and symptomatic osteomalacia associated with Fanconi syndrome. A 55-year-old woman was hospitalized because of an inability to walk. Beginning approximately 2 years previously, she had experienced gradually worsening pain in the hips, shoulders, and trunk, culminating in a bedridden state. Serum urea nitrogen was 38 mg/dl; creatinine, 2.6 mg/dl; uric acid. 3.6 mg/dl; phosphate, 2.3 mg/dl; and alkaline phosphatase, 2111 IU/l. Urinary beta2 microglobulin was 72 331 microg/day. Aminoaciduria, renal glucosuria, and proximal renal tubular acidosis with a normal anion gap were also noted. The patient was diagnosed with Fanconi syndrome. Radiography demonstrated typical Looser zones in the proximal portion of the left and especially the right femoral shaft, and at several other sites. A renal biopsy specimen disclosed severe tubulointerstitial fibrosis with little cellular infiltration. Glomeruli were largely intact. A bone biopsy specimen indicated osteomalacia; no tetracycline labeling could be seen along most trabecular bone surfaces, and the ratio of total osteoid volume to bone volume was increased (71.8%). Bicarbonate administration (9 g/day) gradually lessened most symptoms, permitting ambulation. Calcitriol administration decreased excessive intact-parathyroid hormone emerging after 2 months of acidosis correction. Thus, severe acidosis associated with Fanconi syndrome can induce osteomalacia showing serious skeletal complications, but also responsiveness to bicarbonate therapy.
...
PMID:A patient with symptomatic osteomalacia associated with Fanconi syndrome. 1702 65


1 2 Next >>

---