Cases reported "Nephrocalcinosis"

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1/15. rickets in an infant with williams syndrome.

    calcium homeostasis is altered in patients with williams syndrome. We report an infant in whom williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin d-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin d-deficient formula with standard formula led to resolution of the rickets.
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ranking = 1
keywords = rickets, vitamin
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2/15. A girl with rickets and nephrocalcinosis.

    A 5-year-old girl presented with short stature. She was found to have rickets due to renal phosphate wasting and nephrocalcinosis. serum parathyroid hormone was suppressed, 25-OH vitamin d was within the normal range, and 1,25-(OH)(2 )vitamin d was elevated. In addition, she had hypercalciuria, proteinuria, which was partially tubular in origin, and a reduced glomerular filtration rate of 58 ml/min per 1.73 m(2). Treatment with phosphate supplements resulted in healing of the rickets and normalization of the serum 1,25-(OH)(2 )vitamin d level. This patient is an example of hypercalciuric rickets, most likely due to an inherited disorder of phosphate metabolism. Hypercalciuric rickets can be inherited as an autosomal recessive as well as autosomal dominant trait.
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ranking = 3.9332839642592
keywords = rickets, vitamin
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3/15. Calcinosis and metastatic calcification due to vitamin d intoxication. A case report and review.

    vitamin d, a fat-soluble vitamin, can be associated with significant morbidity when prescribed in large doses. We describe a hypoparathyroid patient with vitamin d intoxication who developed painful periarticular calcinosis, nephrocalcinosis with hypertension and chronic renal failure in addition to band keratopathy and hearing loss. He was treated with combination therapy including prednisone, phosphate-binding antacid, phenytoin and disodium etidronate. After 20 months of follow-up there was a significant reduction of periarticular calcinosis, but no improvement in renal function, band keratopathy or hearing loss and possible calcification of the ossicles. The clinicopathologic features of metastatic calcification and the various treatment modalities are reviewed.
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ranking = 0.08005924288895
keywords = vitamin
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4/15. nephrocalcinosis in a 2-month-old girl suffering from a mild variant of idiopathic infantile hypercalcemia.

    Authors present a rare case of a mild variant of idiopathic infantile hypercalcemia (IIH), in a girl in whom nephrocalcinosis was diagnosed in the 8th week of life. Supplementation of vitamin D3 (400 i.u. per day) has been applied since the age of 3 weeks. The disease was recognised when exploring pyuria and lack of weight gain. hypercalcemia was corrected by diet reduced in calcium, free of vitamin D3 and with high fluid intake. The first abdominal ultrasound after delivery was performed after 5 week vitamin D3 supplementation. It seems that if abdominal ultrasound scan had been done earlier it could have drawn our attention to the developing nephrocalcinosis and allowed us to start treatment more promptly.
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ranking = 0.040029621444475
keywords = vitamin
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5/15. Resolution of medullary nephrocalcinosis in children with metabolic bone disorders.

    Ultrasonographic resolution of nephrocalcinosis (NC) has been reported in children with furosemide-induced NC, but not in other entities. We report the cases of four children with metabolic bone disease, two with hypophosphatasia and two with X-linked hypophosphatemic rickets, in whom we observed resolution of renal calcifications. At the time of ultrasonographic resolution of NC, 3 of the patients were on anticalciuric diuretics, and all 4 had normal urinalysis, serum creatinine and electrolyte profiles, as well as estimated creatinine clearance. In 3 of the children, evidence of mild tubular dysfunction was found. It thus seems that in some children with bone and mineral disorders who develop NC, ultrasonographic resolution of the renal calcifications can be seen; however, mild tubular dysfunction may remain and require follow-up. Further studies are suggested to explore the possible role of anticalciuric diuretics in promoting the resolution of NC.
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ranking = 2.7602752775857
keywords = hypophosphatemic, rickets
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6/15. Oral alendronate therapy for severe vitamin d intoxication of the infant with nephrocalcinosis.

    vitamin d intoxication is a well-known cause of hypercalcemia in children. We report here the use of oral alendronate for the treatment of hypercalcemia due to vitamin d intoxication in a 7 month-old infant with nephrocalcinosis. The serum calcium levels were normalized without complications. Oral alendronate therapy may be safely used in hypercalcemia due to vitamin. D intoxication in pediatric patients with nephrocalcinosis resistant to hydration, diuretics or corticosteroids.
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ranking = 0.08005924288895
keywords = vitamin
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7/15. Erythrocytosis in hypophosphatemic rickets: irreversible complication due to nephrocalcinosis after vitamin d and phosphate therapy.

    A patient with hypophosphatemic vitamin d-resistant rickets developed secondary erythrocytosis during treatment with large doses of vitamin D2 and phosphate. Erythrocytosis was accompanied by a fall in circulating plasma volume and appeared to have developed as a consequence of nephrocalcinosis because it occurred after the appearance of nephrocalcinosis following several episodes of hypercalcemia and hyperphosphatemia. nephrocalcinosis and erythrocytosis did not disappear even after recovery of renal function. Thus, the present observations point to the importance of preventing these irreversible complications that could cause renal failure, erythrocytosis, and thrombotic events during the management of hypophosphatemic vitamin d-resistant rickets.
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ranking = 16.655054115551
keywords = hypophosphatemic, rickets, vitamin
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8/15. Concurrent septic arthritis and urinary tract infection in a patient with nephrocalcinosis and vesicoureteral reflux.

    An eight-month-old boy who presented with a 15-day history of vomiting was revealed to be suffering from urinary tract infection and nephrocalcinosis caused by vitamin d intoxication. During the treatment of vitamin d intoxication (alendronate, 5 mg/day), he developed urinary tract infection and septic arthritis of the left hip joint. Escherchia coli was isolated from his blood, urine, and joint fluid culture. He was operated, joint drainage was performed and appropriate intravenous antibiotic treatment was given for four weeks. After discharge, a voiding cystoureterogram revealed grade 4 vesicoureteral reflux in the right ureter. Combination of complex urinary anomalies associated with stagnation of urine flow and altered urinary dynamics, and metabolic urinary anomalies, such as hypercalciuria/nephrocalcinosis, may facilitate the occurrence of rare systemic complications of urinary tract infection.
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ranking = 0.026686414296317
keywords = vitamin
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9/15. nephrocalcinosis due to vitamin d intoxication.

    Two cases of vitamin d intoxication are presented. The patients, one aged three months, and the other aged four months, were given Vit D in doses ranging from 30,000 IU/day to 60,000 IU/day for over a period of from one to three months. Laboratory data showed serum calcium levels of 17.6-19.5 mg/dl and phosphorus levels of 2.6-3.2 mg/dl. Renal ultrasonographic examination demonstrated medullary nephrocalcinosis in both patients. In this study the clinical, biochemical and ultrasonographic findings and the therapy of Vit D intoxication are reviewed, and preventive measures are suggested.
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ranking = 0.066716035740791
keywords = vitamin
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10/15. Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis.

    nephrocalcinosis was observed in 3 children of one family with distal renal tubular acidosis (dRTA). At presentation, all 3 patients had failure to thrive, rickets, hyperchloremic metabolic acidosis, hypokalemia, hypophosphatemia and hypercalciuria. At a later age, sensorineural hearing impairment was detected. nephrocalcinosis was diagnosed in the index case at the age of 5 years, when a plain abdominal roentgenogram was first made; in the younger brother and sister, nephrocalcinosis was detected earlier at the age of 4 months and 5 weeks, respectively. All 3 patients required large doses of alkali (7.5-9.5 mEq/kg body weight/day) during infancy and early childhood to correct the acidosis and to prevent progression of the nephrocalcinosis. Contrary to the current notion that in children with dRTA, nephrocalcinosis is observed only after the age of 3 years, it appears that in some instances nephrocalcinosis may develop in early infancy. The occurrence of nephrocalcinosis at a very young age may be a manifestation of a severe genetically transmitted variant of dRTA and emphasizes the need for early diagnosis and optimal treatment of these patients from the first days of life.
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ranking = 0.48665679285184
keywords = rickets
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