1.
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang, BY, Yu, HX, Min, J, Song, XX
Clinical rheumatology. 2020;(3):949-956
Abstract
Pyrophosphate synthetase-1(PRS-1) is a crucial enzyme that catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) with substrate: adenosine triphosphate (ATP) and ribose-5-phophate(R5P) in the de novo pathways of purine and pyrimidine nucleotide synthesis. Mutation in PRPS1 can result in a series of diseases of purine metabolism, which includes PRS-1 superactivity. The common clinical phenotypes are hyperuricemia and hyperuricosuria. We identified a novel missense mutation in X-chromosomal gene PRPS1 in a young Chinese woman while her mother has heterogeneous genotype and phenotype. A 24-year-old Chinese female patient suffered hyperuricemia, gout, and recurrent hyperpyrexia for more than 6 years, and then was diagnosed with hyperandrogenism, insulin resistance (IR), and polycystic ovary syndrome (PCOS). A novel missense mutation, c.521(exon)G>T, p.(Gly174Val) was detected by next-generation sequencing (NGS) and confirmed by Sanger sequencing in the patient and her parents. Interestingly, her mother has the same heterozygous missense mutation but without uric acid overproduction which can be explained by the phenomenon of the skewed X-chromosome inactivation. The substituted amino acid Val for Gly174 is positioned in the pyrophosphate (PPi) binding loop, and this mutation impacts the binding rate of Mg2+-ATP complex to PRS-1, thus the assembling of homodimer is affected by changed Val174 leading to the instability of the allosteric site. Our report highlights the X-linked inheritance of gout in females caused by mutation in PRPS1 accompanied with severe metabolic disorders and recurrent hyperpyrexia.
2.
[Ammonium acid urate stone due to laxative abuse: a case report].
Kato, Y, Hou, K, Saga, Y, Yamaguchi, S, Yachiku, S, Kawakami, N
Hinyokika kiyo. Acta urologica Japonica. 2004;(11):799-803
Abstract
We report a case of ammonium acid urate stone due to laxative abuse. A 27-year-old female complained of left flank pain. Computed tomography revealed bilateral ureter stones (right 16.5 x 9.0 mm; left 4 mm), while left ureter stone was radiolucent on the plain X ray film. Bilateral hydronephrosis was seen, but no therapy was performed for the right stone, because 99mTc-MAG3 scintigraphy revealed that right kidney had no function. The left stone was successfully removed by transurethral approach. The stone was revealed to be an ammonium acid urate by infrared spectrophotometry. She had been taking many laxatives (bisacodyl, sennoside, aloe extract) for 12 years to control her body weight. Ammonium acid urate stones are rarely seen in developed countries. We have reviewed 9 cases in Japan, describing ammonium acid urate stones due to laxative abuse. Among these patients, 24-hour urine volume and excretion in urinary sodium were decreased, and serum aldosterone was increased. The involvement of laxative abuse should be considered when ammonium acid urate is formed in a woman with a low body mass index.
3.
[A case of ammonium urate urinary stone].
Hara, N, Koike, H
Hinyokika kiyo. Acta urologica Japonica. 2004;(5):351-3
Abstract
An 18-year-old female, who had undergone antireflux surgery for bilateral vesicoureteral reflux 5 years ago, was admitted to our department with complaints of fever and left-sided back pain. Bilateral renal stones and pyelonephritis were diagnosed after roentgenography, ultrasonography and urinalysis. Pyelonephritis was successfully treated with antibiotics and the left renal stone was completely disintegrated with extracorporeal shock wave lithotripsy. Spectrophotometric analysis revealed that the stone was composed of pure ammonium urate (AU). The patient had not experienced any episodes of urinary tract infection from the antireflux surgery until the present event, but had lost 20 kg in body weight during the last year due to a low-caloric diet and laxative abuse. AU urinary stones have been infrequently reported in Japan, and they are supposed to be associated with a low-caloric diet, laxative abuse, and anorexia nervosa.