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)

Parathyroid carcinoma is an uncommon cause of primary hyperparathyroidism; however, when this condition is severe, cancer must be suspected. We report on a 28-year-old male with severe hypercalcemia, cachexia, acute pancreatitis, urolithiasis, anemia and a severe skeletal involvement with multiple fractures. The patient had a 4-cm parathyroid tumor, that was surgically excised, along with the ipsilateral thyroid lobe. During the postoperative period, he had a severe and prolonged hungry bone syndrome, with a slow recovery of fractures, with functional and anatomical sequelae in the extremities. PTH levels were adequate for the serum calcium during the 16 months of follow-up.
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PMID:[Primary hyperparathyroidism with severe skeletal involvement in one patient with parathyroid carcinoma]. 1576 53

Primary hyperoxaluria (PH) is a rare genetic disorder characterized by overproduction of oxalate due to specific enzyme deficiencies in glyoxylate metabolism. The primary clinical presentation is in the form of recurrent urolithiasis, progressive nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Herein, we present a case of PH who was diagnosed at 47 years of age after 6 years on hemodialysis. He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia, low parathyroid hormone levels, lytic and resorptive areas in the vertebrae, diffusely increased echogenity of the liver, multiple renal stones, and bilateral nephrocalcinosis. Bone marrow biopsy showed calcium oxalate crystals and crystal granulomas. The liver biopsy could not be performed. The absence of an identifiable reason for secondary forms, the severity of the clinical presentation, and pathological findings led to the diagnosis of PH2. He died while waiting for a potential liver and kidney donor. The presented case is consistent with the literature as he had renal stone disease in the third decade and end-stage renal disease in the fifth decade. Hypercalcemia was thought to be due to osteoclast-stimulating activity of macrophages constituting the granuloma. Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively. It is very important to keep in mind the possibility of PH when faced with a patient with nephrocalcinosis and oxalate stone disease.
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PMID:Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism. 2211 29

There are differences in renal anatomy and physiology between rabbits and other domestic species. Neurogenic renal ischemia occurs readily. Reversible prerenal azotemia may be seen in conjunction with gut stasis. Potentially fatal acute renal failure may be due to structural kidney damage or post-renal disease. Chronic renal failure is often associated with encephalitozoonosis. Affected rabbits cannot vomit and often eat well. Weight loss, lethargy, and cachexia are common clinical signs. Polydypsia/polyuria may be present. Derangements in calcium and phosphorus metabolism are features of renal disease. Radiography is always indicated. Urolithiasis, osteosclerosis, aortic and renal calcification are easily seen on radiographs.
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PMID:Diagnosis of renal disease in rabbits. 2334 42

The steenbok (Raphicerus campestris) is a small antelope of the family Bovidae native to the African continent. Urolithiasis, the formation of urinary calculi in the urinary tract, can be caused by a variety of factors such as diet, dehydration, infection and anatomical predisposition. Urolithiasis, with uroliths identified as magnesium calcium phosphate carbonate in composition, was diagnosed in a hand-reared 5-month-old steenbok. Perineal urethrostomy was performed as a component of the broad treatment regime that included fluid therapy, antibiotic and anti-inflammatory treatment. However, the animal died 4 days later as a result of systemic hypoxia and energy depletion because of stress and cachexia. The challenges of post-surgical treatment, the importance of positive energy balance in small ruminants under stressful circumstances, as well as the role of diet of hand-reared antelope in predisposition to urolith formation are highlighted.
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PMID:Perineal urethrostomy to treat obstructive urolithiasis in a captive hand-raised steenbok (<i>Raphicerus campestris</i>). 2922 42