Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016199 (flank pain)
 2,189 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of 2, 8-dihydroxyadenine (2, 8-DHA) urolithiasis. A 39-year-old female was referred to our hospital with the complaint of right flank pain. An X-ray examination showed right hydronephrosis. On May 1986, right percutaneous nephrolithotripsy was performed. Infrared spectroanalysis revealed 2, 8-DHA and calcium phosphate mixed calculus. The adenine phosphoribosyltransferase activity in erythrocytes was partially deficient. Since the operation, 300 mg/day of allopurinol has been administered, and there have been no signs of recurrence.
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PMID:[A case of 2,8-dihydroxyadenine stones with a partial deficiency of adenine phosphoribosyltransferase]. 304 75

This is a case report on a young woman with a large idiopathic unilateral adrenal hematoma (AH). Only few cases of AH which were not associated with any trauma, previous surgery, coagulative or any other systemic disorders have been described. The mass was discovered by abdominal ultrasound which was performed for a recent flank pain. Magnetic resonance imaging (MRI) confirmed the presence of a 13-cm sized lesion in the right hemi-abdomen; T1 and T2 weighed imaging was compatible with subacute-to-chronic adrenal hematoma. The lesion dislocated the liver and right kidney. Positron emission tomography (PET) did not show any significant radiotracer uptake by the mass. Serum cortisol, aldosterone, renin activity and DHEA-S were normal. Urinary catecholamines and free cortisol excretion were within the normal range too. The lesion was removed by transabdominal laparoscopic adrenalectomy without any complication. The histological exam confirmed a large subacute- to-chronic organized AH. In conclusion, in the absence of known risk factors, differential diagnosis of a large AH may not be easy. The possibility of an underlying pheochromocytoma, malignant adrenal or metastatic tumor must always be considered. In our patient, computed tomography (CT) scan and MRI suggested the presence of a large subacute-to-chronic AH, and PET excluded metabolic activity of the mass. Laparoscopic adrenalectomy can be the surgical treatment of choice in organized symptomatic AH. The correct diagnosis, early recognition and treatment of complications including adrenal insufficiency may decrease patient morbidity and mortality.
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PMID:Large idiopathic unilateral adrenal hematoma in a young woman. 1731 23

Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2,8-DHA. A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency.
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PMID:[A Case Report of 2,8-Dihydroxyadenine Stone]. 2627 13

Recently, a number of methods have been devised for detection of mutations in the field of molecular genetics. The LightCycler system has been used for rapid PCR, while simultaneously quantifying and analyzing the amplification results. We tried to apply the LightCycler system to detect APRT*J allele mutations in two families including two children with 2,8-dihydroxyadenine urolithiasis. The first patient was a 3-year-old girl who presented with left flank pain. The second patient was a 2-year-old girl who presented with complaints of sudden dysuria. The spectrophotometric analysis of the stone fragments of both patients revealed an absorption spectrum for 2,8-DHA. We used the LightCycler system to detect APRT*J mutation. The first patient was homozygous for APRT*J/APRT*J and the second patient was compound heterozygous for APRT*J/APRT*Q0. The genetic diagnosis of APRT deficiency using this system may be useful not only as a diagnostic test for infants with known 2,8-DHA, but also as a screening of infants with a suspicion of urolithiasis. We believed that the LightCycler system still is an important means of identifying APRT*J mutation.
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PMID:Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. 2850 61