Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old boy presented with the clinical and radiological features of rickets. Serum inorganic phosphate levels were constantly low, whereas serum calcium and parathyroid hormone levels were within the normal range. Laboratory investigation did not show any evidence for vitamin-D deficiency, chronic renal insufficiency, Fanconi syndrome, tubular acidosis, hepatic disease or intestinal malabsorption. A family study comprising 34 members over four generations revealed 10 other individuals to be affected and the mode of inheritance to be autosomal dominant. In addition to hypophosphataemia and normocalcaemia, the disease is characterized by elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria. This hereditary syndrome of renal hypophosphataemia differs from the common familial X-linked hypophosphataemia and the recently described autosomal recessive hypophosphataemic rickets with hypercalciuria by its dominant mode of inheritance; it differs from hypophosphataemic non-rachitic bone disease by the elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria.
 ...
PMID:Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. 315 20

As part of a randomised controlled study to assess the effect of pasteurization of breast milk on the growth of very-low-birth-weight infants, the longitudinal changes in serum calcium, phosphorus, alkaline phosphatase, 25-hydroxyvitamin D, and bone-gla-protein concentrations were investigated. Infants fed untreated own mother's milk grew more rapidly than those fed pasteurized pooled preterm milk and had higher serum alkaline phosphatase and lower phosphorus values. Serum calcium and 25-hydroxyvitamin D (25-OHD) concentrations were similar in the two groups. Despite the provision of 750 IU vitamin D daily from the 2nd week of life, serum 25-OHD values remained low in a number of infants in both groups, suggesting that either malabsorption of vitamin D or hepatic immaturity might be responsible for the persistently low values. Bone-gla-protein rose significantly after birth and was correlated with alkaline phosphatase values, but not with 25-OHD or phosphorus values. The study supports previous work that indicates that the low phosphorus content of breast milk is probably responsible for biochemical evidence of inadequate bone mineralization and that despite vitamin D supplementation, 25-OHD values do not rise adequately. Thirty-six infants were reexamined between 4 and 11 months after birth. The 25-OHD values had risen significantly in all infants except one who had vitamin D deficiency rickets.
 ...
PMID:Mineral homeostasis in very low birth weight infants fed either own mother's milk or pooled pasteurized preterm milk. 351 33

Juvenile rickets or osteopenia in rural black children is thought to be due to low calcium intake. Characteristic findings include mild calcium deficiency, normal serum phosphate levels, increased alkaline phosphatase concentrations and normal plasma vitamin D levels. The present series consisted of 62 black children (average age 6.82 years), 41 males and 21 females. Low levels of serum calcium and phosphate were present in 34 (54%) and 18 (29%) of the patients respectively. Alkaline phosphatase concentrations were raised (greater than 350 IU/l) in 38 (61%). Serum sodium, potassium, chloride, total bicarbonate, magnesium, ceruloplasmin and albumin levels were generally within normal limits. Urinary acidification was normal and barium studies were reported as normal in all but 4 children. Malabsorption was not an important feature. Serum vitamin D levels were not determined. All 18 patients with hypophosphataemia improved. Eleven children showed no clear response after at least 8 weeks in hospital--8 remained hypocalcaemic and 2 of the 3 patients with normal biochemical values showed no radiological improvement of osteopenia after 2 and 4 months in hospital, while the 3rd showed only very slight improvement after 7 months in hospital. It is not clear why these patients did not respond and whether even longer hospitalisation would have been effective.
 ...
PMID:[Aspects of juvenile rickets/osteopenia in black children]. 360 15

A male born to first cousins presented at 12 months with hypocalcemic convulsions, rickets, epistaxis due to vitamin K deficiency, and extremely low serum levels of beta-carotene and vitamin A. Liver function was altered moderately (glutamic-oxaloacetic transaminase, 55 U/L; glutamic-pyruvic transaminase, 37 U/L; lactate dehydrogenase, 255 U/L; alkaline phosphatase, 437 U/L). To correct the deficiencies, 8,000 IU vitamin D/day, 10,000 IU vitamin A/day, and intramuscular administration of vitamin K1 were required. At 9 years, he presented signs of neuromuscular affection, and the serum vitamin E level (measured for the first time) was extremely low. Classic lipid malabsorption syndromes (abetalipoproteinemia, chronic cholestasis, mucoviscidosis, coeliac disease, Whipple's disease) were excluded by appropriate examinations. Composition of duodenal bile acids was characterized by undetectable levels of cholic acid metabolites, and only chenodeoxycholic acid metabolites were present. Serum total bile acid concentration was normal, with an atypical low cholic acid/chenodeoxycholic acid ratio and abnormal presence of 3 beta-OH-delta 5-cholenic acid and 6-OH-bile acids. Urinary bile acid composition was also characterized by elevated 6-OH-bile acids. Known enzymopathies of the bile acid synthetic pathway were excluded (cerebrotendinous xanthomatosis, cerebro-hepato-renal syndrome of Zellweger, coprostanic acidemia). Bile acid pool sizes were determined by using stable isotopes: cholic acid pool size [2.90 (N, 32 +/- 16) microM/kg] and chenodeoxycholic acid pool size [10.8 (N, 32.6 +/- 9.9) microM/kg] were extremely low; fractional turnover rates of both bile acids were in a normal range.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Malabsorption of liposoluble vitamins in a child with bile acid deficiency. 379 31

Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria.
 ...
PMID:Clinical phenotypes in kidney transport disorders. 437 65

Metabolic bone disease occurring in renal or intestinal disorders has been reviewed with particular reference to etiological factors. Hyperparathyroidism is seen as a recurring cycle of renal damage-hyperphosphatemia-hypocalcemia-parathyroid stimulation-mobilization of bone calcium and phosphate-renal tubular phosphate rejection. In intestinal cases, the initial stimulus is presumably hypocalcemia. Osteomalacia is seen as resulting from phosphate depletion for the following reasons:1. Experimentally, rickets results from dietary phosphate restriction in rats.2. Such rickets is not prevented by the presence of normally adequate amounts of dietary vitamin D, and may therefore be termed "resistant" in the clinical sense.3. Osteomalacia or rickets in intestinal malabsorption and renal tubular disorders is associated with hypophosphatemia due to excessive fecal or urinary loss.4. Renal tubular rickets has been healed by oral phosphate loading in some studies.5. Acidosis may induce osteomalacic changes, experimentally and clinically (for example, in uretero-sigmoidostomy). Reversal of systemic acidosis with oral bicarbonate has resulted in phosphate retention and a rising serum phosphate in one such case.6. Preliminary data from analysis of full-thickness bone biopsy in two osteomalacic patients shows a significant reduction in calcium and phosphate content.7. Despite the hyperphosphatemia of azotemic renal failure, over-all phosphate depletion may be present in this situation also due to: * Diminished dietary phosphate in low protein diets * Nausea and vomiting * Occasional diarrhea * The use of oral phosphatebinding antacids * Perpetuation of urinary phosphate losses by reduction in proportion of tubular reabsorbed phosphate (secondary hyperparathyroidism) and possibly high filtered load per nephron * Repeated losses of phosphate to bath fluid during dialysis.
 ...
PMID:Metabolic bone disease secondary to renal and intestinal disorders. 489 May 32

Chamberlain's, McGregor's and Bull's angle measurements for basilar impression of the skull were made on 22 adult patients with idiopathic steatorrhoea (probable gluten enteropathy), 24 patients who had had previous gastric surgery, and 48 control subjects. For each of the three measurements a value greater than the mean plus two standard deviations was taken as the upper limit of normal. In seven patients with adult steatorrhoea all three measurements were abnormal suggesting basilar impression, while basilar impression was probable in only one patient who had gastric surgery. The trend towards abnormal measurements was significant in the steatorrhoea patients but not in those who had gastric surgery. Basilar impression also was present in patients who did not have rickets or present evidence of osteomalacia. It was argued that this study could support a hypothesis that some cases of primary basilar impression of the skull are secondary to bone softening associated with malabsorption in early life, the evidence of which may have disappeared in adult life.
 ...
PMID:Basilar impression of the skull in patients with adult coeliac disease and after gastric surgery. 502 15

The plasma 1,25-(OH)2VD3 level in Fanconi syndrome was low but rose rapidly following the administration of 1 alpha-OHVD3. 1 alpha-OHVD3 was administered to 6 patients with different types of Fanconi syndrome. The effect of 1 alpha-OHVD3 proved to be 200-250 times as great as that of vitamin D2. From our results it was suggested that Ca malabsorption due to failure of 1 alpha-hydroxylation of vitamin D in the kidney, together with renal tubular acidosis and hypophosphatemia, is involved in the pathogenesis of the rickets of Fanconi syndrome.
 ...
PMID:Biologic and therapeutic effects of 1 alpha-hydroxycholecalciferol in different types of Fanconi syndrome. 689 75

Rickets, hypocalcemia, hypophosphatemia, and hyperparathyroidism were found in a low-birth-weight premature infant. The concentration of plasma calcitriol (1,25-dihydroxyvitamin D) was 145 pg/mL. With additional exogenous calcitriol (37.5 ng/kg/24 hr) given for eight weeks, the biochemical abnormalities were corrected and healing of rickets was evident. Three months later, while receiving only 400 IU of ergocalciferal daily, the patient had normal levels of serum calcium, phosphate, and alkaline phosphatase with a serum calcitriol concentration of 36 pg/mL. These observations suggest that rickets of prematurity may involve a malabsorption of calcium and phosphorus with an elevated calcitriol level needed to overcome this inadequate absorption. Additional doses of calcitriol may be of benefit in these infants, although it must be given carefully. Furthermore, the role of phosphate supplementation in these infants requires consideration.
 ...
PMID:Rickets of prematurity. Supranormal levels of serum 1,25-dihydroxyvitamin D. 696 86

Four infants with less than 35 cm of jejunum and ileum remaining following neonatal operations and after being weaned from long-term total parenteral nutrition onto an "elemental" formula, developed the syndrome of vitamin D deficiency rickets at 9-15 mo of age. The diagnosis of rickets was confirmed by biochemical and radiographic findings. Serum 25 hydroxy vitamin D (25 OHD) values were significantly lower than normal and oral 25 OHD absorption studies indicated severe vitamin D malabsorption. This report emphasizes the importance of prospective assessment of all neonates having distal ileal resection to detect the early stages of vitamin D deficiency rickets.
 ...
PMID:Vitamin D deficiency rickets as a late complication of the short gut syndrome during infancy. 697 20


<< Previous 1 2 3 4 5 6 7 Next >>