醫學三：80題 ( 包括內科,家庭醫學科等科目及其相關臨床實例與醫學倫理 )題庫下載題庫

(A)

Acute uric acid nephropathy (UAN) 

Less frequent causes of UAN include tissue catabolism due to seizures or treatment of solid tumors, primary overproduction of uric acid due to hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, or hyperuricosuria due to decreased urate reabsorption in the proximal tubule, as can occur with an acute Fanconi-like syndrome [1-4] or with exercise in patients with familial renal hypouricemia due to an inherited deficiency in the activity of the urate-anion transporter URAT1.
ref: https://www.uptodate.com/contents/uric-acid-renal-di...

(A)

Acute uric acid nephropathy (UAN) 

Less frequent causes of UAN include tissue catabolism due to seizures or treatment of solid tumors, primary overproduction of uric acid due to hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome, or hyperuricosuria due to decreased urate reabsorption in the proximal tubule, as can occur with an acute Fanconi-like syndrome [1-4] or with exercise in patients with familial renal hypouricemia due to an inherited deficiency in the activity of the urate-anion transporter URAT1.
ref: https://www.uptodate.com/contents/uric-acid-renal-diseases?search=hypoxanthine%20%20uric%20acid&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1

(D)

Tumor lysis syndrome is characterized by hyperphosphatemia, hypocalcemia, hyperuricemia, hyperkalemia, and renal insufficiency. 

Hyperuricemia is the most frequent metabolic abnormality seen in patients with AML. It is also one of the diagnostic criteria for tumor lysis syndrome. 
For the initial management of adult and pediatric patients at intermediate risk for Tumor lysis syndrome(table 3), we suggest allopurinol rather than rasburicase, as long as pretreatment uric acid levels are not elevated (ie, <8 mg/dL [476 micromol/L]), although administration of a single dose of rasburicase is a reasonable alternative in this setting.

Febuxostat is a new hypouricemic drug that may be used in patients with hyperuricemia who cannot tolerate allopurinol in a setting in which rasburicase is either not available or contraindicated.

Febuxostat is an orally administered, potent, selective inhibitor of xanthine oxidase that was approved in the United States in 2009 and elsewhere for management of chronic hyperuricemia in gout.

ref: https://www.uptodate.com/contents/tumor-lysis-syndrome-prevention-and-treatment?search=acute%20myeloid%20leukemia%20hyperuricemia&topicRef=1154&source=see_link#H1472868242

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births

The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems.

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births

The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems.