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)

More than half of the Japanese patients with 2,8-dihydroxyadenine urolithiasis only partially lack adenine phosphoribosyltransferase (APRT), while all the Caucasian patients with the same disease completely lack the enzyme. APRT activities in healthy heterozygotes for the complete APRT deficiencies were at the same levels as the Japanese patients, and simple enzyme assay does not distinguish between these two conditions. We have previously shown, using viable T-cells, that the enzyme was non-functional in the cells from the Japanese patients although they contain considerable APRT activities in the cell extracts. In the present investigations, we devised a rapid method using erythrocytes for the diagnosis of partial APRT deficiencies accompanied by severe impairment in adenine metabolism causing 2,8-dihydroxyadenine lithiasis. Thus, erythrocytes from three different families with 2,8-dihydroxyadenine urolithiasis associated with partial APRT deficiencies incorporated only minimal amounts of radioactive adenine, while normal erythrocytes incorporated significant amounts. These data indicate that severe impairment in adenine metabolism is shown not only in viable T-cells but also in viable erythrocytes. The present procedures provide a rapid method suitable for routine clinical use for the diagnosis of partial APRT deficiencies causing 2,8-dihydroxyadenine lithiasis.
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PMID:Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis. 404 67

VATER association is diagnosed by the combined presence of at least three of the following features: vertebral anomalies, anal atresia, tracheo-esophageal fistula and/or esophageal atresia, radial ray anomalies, and renal anomalies (53%). Urolithiasis has not been reported in this syndrome. A 4-month old girl presented because of irritability, and the presence of stones in the diapers. Physical examination revealed anal atresia for which colostomy was performed in the newborn period. The diagnosis of VATER association was established by the additional findings of hemivertebrae, sacral dysgenesis, and horseshoe kidney which was partly non-functional. Urinary pH was repeatedly below 6. An excreted stone consisted of pure uric acid. Metabolic investigations detected no specific pathology in purine metabolism. Urolithiasis did not recur after reconstructive anal and anorecto-vaginoplasty, implying that it was a consequence of colostomy and/or of the underlying renal anomaly. We suggest that after colostomy patients with VATER association should be followed for possible urate stones, e.g. by regular screening of urinary pH.
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PMID:Coexistence of VATER association and recurrent urolithiasis: a case report. 954 75

Symptomatic urolithiasis in pregnancy is a rare event. We present a series of 13 cases. Although controversial, we think that X-rays should be avoided if possible. Ultrasound may not be the perfect diagnostic tool in every case of stone disease, however in pregnancy it is the imaging of choice and led to an accurate diagnosis in all our cases. Thirty-eight percent of the patients were managed conservatively throughout their pregnancy, and another thirty-eight percent of our patients needed more extended treatment but could be managed by simple insertion of a double J ureteric stent (DJ). Therefore, in our series invasive treatment was not necessary in the majority of patients. Each one patient required a percutaneous nephrostomy (PCN) and a nephrectomy for a non-functional pyonephrotic kidney. Urolithiasis in pregnant women constitutes a challenge for the treating urologists since they are deprived of some of their essential tools, such as X-rays and extracorporeal shock wave lithotripsy (ESWL), and since normally tolerable complications of less invasive treatments can have disastrous consequences in pregnant patients. Therefore, decisions on any kind of treatment have to be made very prudently and critically. We present an algorithm for the management of stones in pregnancy which may be helpful in decision making.
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PMID:Urolithiasis in pregnancy--a clinical challenge. 975 55