Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage.
A 32-year-old man who had had frequent gouty arthritis over the past 17 years, was admitted for acute renal failure. Acute renal failure was improved rapidly after medication was resumed and the patient was sufficiently hydrated. The hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in the patient had been reduced to about 30% of the normal control. Therefore we considered that this patient suffered from a partial deficiency of HPRT. A point mutation of HPRT gene 68G (guanine) to T (thymine) was detected. This is a mutation that has not been previously reported. Familial analysis indicated that his mother and sister were heterozygotes.
Hikita
M
M
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
Hosoya
T
T
Ichida
K
K
Okabe
H
H
Saji
M
M
Ohno
I
I
Kuriyama
S
S
Tomonari
H
H
Hayashi
F
F
Onouchi
K
K
Fujimori
S
S
Yamaoka
N
N
Sakuma
R
R
D058186:Acute Kidney Injury / Q000175:diagnosis / Q000201:enzymology*; D000328:Adult; D000493:Allopurinol / Q000627:therapeutic use; D015210:Arthritis, Gouty / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology; D004247:DNA / Q000032:analysis; D015342:DNA Probes / Q000737:chemistry; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D017354:Point Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction
D015342:DNA Probes; D006074:Gout Suppressants; D000493:Allopurinol; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase