Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old boy who had suffered from recurrent stone formation since the age of 4 years, was admitted as an emergency due to anuria for a half day on November 20, 1986. Kidney-ureter-bladder film showed that the urethra was obstructed by a stone, and emergent cystoscopy was performed to remove it. He is the product of consanguinous marriage, his parents being first cousins. There was no family history of renal stone. Laboratory investigations showed hypokalemic, hyperchloremic metabolic acidosis. The ammonium chloride loading test revealed inability to acidify the urine and a markedly decreased excretion of titrable hydrogen ion and ammonium ion in the urine. These results indicate that this is a case of Type I renal tubular acidosis. His 24-hour urinary excretion of oxalate and glyoxylate were also markedly increased. There were no underlying causes leading to the development of secondary hyperoxaluria. These results also establish the diagnosis of Type I primary hyperoxaluria. The patient then received regimens of Polycitra 1ml/kg/day and Vitamin B6 50mg/day for 4 months. However, urinary stone developed again in this patient 4 months later. To our knowledge, Type I primary hyperoxaluria in association with Type I renal tubular acidosis has not been previously reported.
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PMID:Type I primary hyperoxaluria associated with type I renal tubular acidosis. 344 74

The accurate diagnosis and quantitation of nephrolithiasis in patients with primary hyperoxaluria (PH) often directly impacts the medical and surgical management for individuals with both symptomatic and asymptomatic calculi. Traditionally, depiction of the size, location and appearance of urinary calculi has been provided by kidney, ureter and bladder plain film radiographs with or without tomography. Given advances in imaging technology there is a shift from conventional radiographs to cross-sectional imaging technology, namely unenhanced computed tomography (CT), CT urography, ultrasound and magnetic resonance imaging. These diagnostic techniques provide differing advantages and disadvantages for imaging stone disease. This review outlines imaging advances in the accurate diagnosis and quantitation of patients with metabolically active stone disease such as PH.
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PMID:Quantitation of stone burden: imaging advances. 1628 80