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Genetic Background of a Juvenile Onset Gout Patient

摘要To the Editor:A 19-year-old Chinese male was admitted to Peking Union Medical College Hospital in November 2016,due to recurrent joints pain and swelling with hyperuricemia for 6 years.The first attack occurred in the first metatarsophalangeal joints (MTP1) of the left foot in August 2010 and was relieved gradually.The symptoms recurred in 2011.Subsequently,he was diagnosed with gouty arthritis.Then,the patient began to restrict his intake of purine-rich foods and drink excess water,but continued to suffer from recurrent attacks.Tophi were gradually found in bilateral MTP,proximal interphalangeal joint,metacarpal phalangealjoints,intertarsal joints,and auricles,successively.The recurrent renal colic appeared from 2015.In August 2016,all tophi in the extremities were enlarged and ulcerated through the skin,discharging white and sticky material.This phenomenon resulted in restricted daily activities,thereby causing to remove the tophi.Before surgery,the laboratory tests showed significantly elevated levels of serum uric acid (UA,767 μmol/L).Imaging examination revealed bilateral multiple nephrolithiasis and bone erosions in multiple joints.He was treated with nonsteroidal anti-inflammatory drugs and 80 mg febuxostat daily.The serum UA level was lowered from 480 to 264 μmol/L.Nevertheless,the symptoms of the joints continued to worsen,and the patient could not stand or walk unaided.In addition,he had a low-grade fever due to which,he was transferred to Peking Union Medical College Hospital.

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作者单位 Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China [1] Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China [2]
栏目名称 Correspondence
DOI 10.4103/0366-6999.238137
发布时间 2018-09-10
基金项目
a grant from the National Health and Family Planning Commission of People's Republic of China
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中华医学杂志(英文版)

中华医学杂志(英文版)

2018年131卷16期

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