Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined. These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.
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PMID:Stones, bones, and heredity. 1680 Nov 62

The parathyroid glands secrete parathyroid hormone (PTH), which is important for maintaining calcium homeostasis. Parathyroid gland hyperplasia and subsequent hyperparathyroidism can occur secondary to chronic renal failure in dogs, resulting in significant alterations in calcium metabolism. Renal secondary hyperparathyroidism is a complex, multifactorial syndrome that involves changes in circulating levels of calcium, PTH, phosphorus, and 1,25-dihydroxycholecalciferol (calcitriol). An increased PTH level can have deleterious effects, including soft tissue mineralization, fibrous osteodystrophy, bone marrow suppression, urolithiasis, and neuropathy. Dietary phosphorus restriction, intestinal phosphate binders, and calcitriol supplementation may slow the progression of renal disease and decrease PTH concentrations in animals with secondary hyperparathyroidism; however, the prognosis for these animals is guarded to poor.
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PMID:Renal secondary hyperparathyroidism in dogs. 1974 44

The paper describes a case of maldiagnosis of giant-cell tumor in a patient with parathyroid osteodystrophy, in this connection elbow joint resection and replacement were made. Parathyroid adenoma with the symptoms of primary hyperparathyroidism was diagnosed only two years after surgery. Progression of diseases was accompanied by severe bone changes and the development of urolithiasis complicated by chronic renal failure. Thus, the interpretation of bone tissue changes without considering clinical and laboratory data led to the unwarranted surgical intervention and the late diagnosis of primary hyperparathyroidism. Differential diagnosis of a giant-cell tumor should be made, by obligatorily considering clinical and laboratory data, including the parameters of calcium metabolism.
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PMID:[Maldiagnosis of giant-cell tumor of the bone in a patient with hyperparathyroid osteodystrophy]. 1993 6