OBJECTIVE To detect potential mutation in a Chinese family affected with beta-ureidopropinoase deficiency. METHODS Genomic DNA was extracted from peripheral blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had heterozygous change of the same site. CONCLUSION The c.977G>A mutation of the UPB1 gene is responsible for the pathogenesis of the disease in the infant.
Abnormalities, Multiple ; genetics ; Amidohydrolases ; deficiency ; genetics ; Brain Diseases ; genetics ; Exons ; Humans ; Infant ; Male ; Movement Disorders ; genetics ; Mutation ; Purine-Pyrimidine Metabolism, Inborn Errors ; genetics

OBJECTIVE: To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software. RESULTS: Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging. CONCLUSION The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.
Abnormalities, Multiple ; genetics ; Amidohydrolases ; deficiency ; genetics ; Asian Continental Ancestry Group ; Brain Diseases ; genetics ; China ; Exons ; Humans ; Infant ; Introns ; Movement Disorders ; genetics ; Mutation ; Pedigree ; Purine-Pyrimidine Metabolism, Inborn Errors ; genetics

Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The underlying defect is a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). We report on a fourteen-year-old boy, who manifested gouty arthritis and mild renal insufficiency with Lesch-Nyhan disease, lacking self-mutilative behavior in spite of undetectable HPRT activity. Though there were several reports about some cases of Lesch-Nyhan disease in the past Korean literature, the cases were classic forms with definite neurological manifestation. As far as we know, this is the first case of Lesch-Nyhan disease without self-mutilation in Korea.
Arthritis, Gouty ; Cerebral Palsy ; Gout ; Hyperuricemia ; Hypoxanthine Phosphoribosyltransferase ; Intellectual Disability ; Korea ; Lesch-Nyhan Syndrome ; Muscle Spasticity ; Neurologic Manifestations ; Renal Insufficiency

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
Arthritis, Gouty* ; Humans ; Hyperuricemia ; Hypoxanthine Phosphoribosyltransferase ; Lesch-Nyhan Syndrome* ; Neurologic Manifestations* ; Uric Acid

Osteochondroma, which is an osteocartilaginous exostosis, is essentially the most common primary bone tumor. These benign neoplasms are generally asymptomatic and have a relatively small potential for adverse effects. Calcaneal osteochondroma is rare, furthermore osteochondroma accompanying with gouty arthritis is very rare. Also, the subtalar joint is not a classic site of acute gout. In this report, we report the case of a patient who experienced an unusual calcaneal osteochondroma with undiagnosed gouty arthritis of the subtalar joint.
Arthritis, Gouty ; Calcaneus ; Gout ; Humans ; Osteochondroma ; Subtalar Joint

OBJECTIVE: To observe the diurnal difference of acute gout attacks in men, and provide reference for accurate clinical prevention and treatment. METHODS: Using a single-center, cross-sectional study design, the patients diagnosed with gout in the outpatient department of Rheumatology and Immuno-logy of PLA Joint Logistic Support Force No.980 Hospital from October 2021 to April 2022 were selected. The information about the patient's current/last acute gout attacks (less than 2 weeks from visit), date and time of attacks, joint symptoms and signs, medication use, and relevant biochemical tests on the day of visit was recorded. The diurnal time difference of acute gout attacks in male patients was analyzed, and univariate comparison and multivariate Logistic regression analyses were conducted to compare the diurnal difference of acute gout attacks with clinical characteristics and biochemical indicators. RESULTS: A total of 100 male gout patients were included, and 100 acute attacks were recorded. Diurnal distribution of acute gout attacks: morning (6:00~11:59, 18, 18%), afternoon (12:00~17:59, 11, 11%), the first half of the night (18:00~23:59, 22, 22%), the second half of the night (0:00~05:59, 49, 49%); During the day (included morning and afternoon, 29, 29%) and at night (included the first half of the night and the second half of the night, 71, 71%). The rate of acute gout attack was significantly higher at night than in the day (about 2.5 ∶1). No matter the first or recurrent gout, no matter the duration of the disease, the number of acute gout attacks had the difference of less in the day and more in the night. Serum urate (SU) level was higher in the patients with nocturnal attack than in those with daytime attack (P=0.044). Comorbidities were significantly different in the day-night ratio of the number of acute gout attack (P=0.028). Multiple Logistic regression analysis showed that SU level (OR=1.005, 95%CI: 1.001-1.009) and comorbidities (OR=3.812, 95%CI: 1.443-10.144) were the correlative factors of nocturnal acute gout attacks. CONCLUSION No matter the first or recurrent gout, no matter the duration of the disease, it has a diurnal variation characterized by multiple attacks at night, increased SU level and comorbidities are correlative factors for nocturnal acute attack of gout.
Humans ; Male ; Cross-Sectional Studies ; Gout/drug therapy* ; Arthritis, Gouty ; Gout Suppressants/therapeutic use* ; Comorbidity

Most cases of the popliteal cyst rupture in rheumatic diseases have been reported in patients with rheumatoid arthritis. A ruptured popliteal cyst is unusual in other diseases, especially in gouty arthritis. The clinical presentations of a ruptured popliteal cyst may include pain, swelling, tenderness and erythema of the calf, and mimic deep vein thrombophlebitis. It is therapeutically important to differentiate ruptured popliteal cyst from deep vein thrombophlebitis. A ruptured popliteal cyst in gouty arthritis has never been reported in Korea. We would like to report one case of the ruptured popliteal cyst into the calf in gouty arthritis mimicking deep vein thrombophlebitis.
Arthritis, Gouty* ; Arthritis, Rheumatoid ; Erythema ; Gout ; Humans ; Korea ; Popliteal Cyst* ; Rheumatic Diseases ; Rupture ; Thrombophlebitis ; Veins

Gout occurs mainly in monoarthritis and is found in more than 50% of cases in hallux of the foot. In addition, symptoms sometimes begin in the hand, wrist, and elbow, but they are rarely observed in the spine. The patient was referred for tuberculous polyarthritis due to antituberculosis drug failure. Inflammatory findings were observed in the lumbar, elbow, wrist, hand and foot areas. Surgery was performed on the foot area and a pathology diagnosis revealed gouty arthritis. We report this case with a review of the relevant literature.
Arthritis* ; Arthritis, Gouty* ; Diagnosis ; Elbow ; Foot ; Gout ; Hallux ; Hand ; Humans ; Pathology ; Spine ; Wrist

Gout occurs as a response to monosodium urate crystal, that is present in joints, bones and soft tissue. The classic symptoms of gouty arthritis are recurrent attacks of acute, markedly painful monoarticular or oligoarticular inflammation; but polyarthritis and chronic arthritis can also occur. Differential diagnosis from infectious arthritis is important. A definitive diagnosis requires the direct identification of urate crystals in the joint, and the exclusion of infection. We report the case of systemic inflammatory response syndrome (SIRS), developed from acute polyarticular gout. SIRS is characterized by loss of local control of inflammation, or an overly activated response resulting in an exaggerated systemic response. The SIRS was presumably due to systemic effects of a localized inflammatory response to urate crystals.
Arthritis ; Arthritis, Gouty ; Arthritis, Infectious ; Diagnosis, Differential ; Gout ; Inflammation ; Joints ; Sepsis ; Systemic Inflammatory Response Syndrome ; Uric Acid

Gout is a common metabolic disease in which monosodium urate crystals called tophi develop. Spinal involvement in gout resulting in neural compression is unusual. We describe a case of a 64-year-old man with a history of gouty arthritis of the knee. The patient presented with thoracic myelopathy and radiculopathy. Imaging of the spine revealed an extradural mass lesion with bony erosion of the thoracic spine. A decompressive operation was performed, and a chalky white material was found. Histopathological examination confirmed a gouty tophus. The symptoms of spinal gout vary and its radiological features are not sufficiently specific to provide a definite diagnosis. Therefore, in patients with a history of gouty arthritis who present with neural compressive symptoms of the spine, spinal gout should be strongly suspected.
Arthritis, Gouty ; Gout* ; Humans ; Knee ; Metabolic Diseases ; Middle Aged ; Radiculopathy ; Spinal Cord Diseases ; Spine* ; Uric Acid