Abstract
The dual-energy computed tomography (DECT) showed multiple tophi in both hands with erosions in the bones and malformations in the joints [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d,[Figure 1]e. The serum lipid, fasting blood glucose, oral glucose tolerance test, and hemoglobin A1c were normal. [...]the UA level started to decline: 420 μmol/L (December 15), 371 μmol/L (December 18), and 302 μmol/L (December 21), and the 24-h urinary clearance rate of urate and creatinine increased to 6.92 and 98.45 ml/min, separately. [2] indicated that p.K159N is one of the loci leading to this disease. [...]WES indicated a single heterozygous point mutation c.206G>T on exon 3 of SLC17A3 gene located on chromosome 6 in the patient, altering the amino acid, p.S69I (NM_001098486).
You have requested "on-the-fly" machine translation of selected content from our databases. This functionality is provided solely for your convenience and is in no way intended to replace human translation. Show full disclaimer
Neither ProQuest nor its licensors make any representations or warranties with respect to the translations. The translations are automatically generated "AS IS" and "AS AVAILABLE" and are not retained in our systems. PROQUEST AND ITS LICENSORS SPECIFICALLY DISCLAIM ANY AND ALL EXPRESS OR IMPLIED WARRANTIES, INCLUDING WITHOUT LIMITATION, ANY WARRANTIES FOR AVAILABILITY, ACCURACY, TIMELINESS, COMPLETENESS, NON-INFRINGMENT, MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE. Your use of the translations is subject to all use restrictions contained in your Electronic Products License Agreement and by using the translation functionality you agree to forgo any and all claims against ProQuest or its licensors for your use of the translation functionality and any output derived there from. Hide full disclaimer
Details
1 Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730
2 Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730