Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old girl with Wilson's disease presented with mild hypocalcemia (8.0 mg per deciliter), hypophosphatemia (2.7 mg per deciliter), hypercalciuria (569 mg per day), and hyperphosphaturia (tubular reabsorption of phosphate, 67 per cent). The hyperphosphaturia and hypercalciuria were attributed to the Fanconi syndrome, a known component of Wilson's disease. Circulating immunoreactive parathyroid hormone was usually undetectable or, occasionally, detectable at minimal levels in the presence of depressed blood levels of ionized calcium. Normal levels of ionized calcium were not maintained throughout a 24-hour monitoring period. The patient had tetany during a period of rapid reduction in ionized calcium levels, and an appropriate rise in circulating immunoreactive parathyroid levels was never demonstrated. Induced hypocalcemia during citrate infusion did not stimulate parathyroid secretion, nor did infusion of magnesium. We conclude that parathyroid insufficiency may be associated with Wilson's disease. We speculate that it is due to deposition of copper in the parathyroid glands.
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PMID:Hypoparathyroidism in Wilson's disease. 688 80

Hypercalciuria and nephrocalcinosis are not uncommon in patients with Wilson's disease but have only once been reported as the presenting sign. We diagnosed Wilson's disease in a 17-year-old male patient 6 years after his first episode of gross hematuria and 2 years after detection of hypercalciuria and nephrocalcinosis. Therapy with penicillamine resulted only in a moderate reduction of urinary calcium excretion but oxalate excretion increased.
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PMID:Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. 829

A female presented with pain in left flank, detected to have bilateral renal calculi with deranged liver functions. On investigation found her to have Wilson's disease with hypercalciuria and incomplete distal renal tubular acidosis. Patient was started on penicillamine following which her hepatitis improved but hypercalciuria persisted after 10 weeks of follow up. The rarity of such presentation and literature review for the same is discussed.
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PMID:Rare presentation of Wilson's disease: a case report. 1536 14

Two sisters presented with lower limb deformity and difficulty in walking without support. Both had short stature; however, neurodevelopment and secondary sexual characters were normal. Abdominal examination revealed splenomegaly and ophthalmic examination showed presence of Kayser-Fleischer (K-F) rings. Diagnosis of Wilson's disease was confirmed with low serum copper and ceruloplasmin levels. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal renal tubular acidosis. Both patients were started on copper chelation therapy and showed gradual radiographic improvement in osteopaenia.
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PMID:Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. 2268 76