A case of gouty arthritis associated with Down's syndrome. 1976

Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi

Gouty arthritis developed in a twenty-one-year-old male whose karyotyping showed Trisomy 21. His serum urate level was 13.1 mg per 100 ml and his twenty-four-hour urinary uric acid excretion was 431 mg on a low purine diet. Uric acid clearance was decreased to 3.9 ml per minute. The cumulative incorporation of N15-glycine into urinary uric acid during successive seven days was 0.144 per cent, which was within the normal range. Diminished uric acid clearance may be attributed to this hyperuricaemia. The cause of gouty arthritis and Down's syndrome in the patient is discussed.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D007677 Kidney Function Tests Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine. Function Test, Kidney,Function Tests, Kidney,Kidney Function Test,Test, Kidney Function,Tests, Kidney Function
D008297 Male Males
D008657 Metabolic Clearance Rate Volume of biological fluid completely cleared of drug metabolites as measured in unit time. Elimination occurs as a result of metabolic processes in the kidney, liver, saliva, sweat, intestine, heart, brain, or other site. Total Body Clearance Rate,Clearance Rate, Metabolic,Clearance Rates, Metabolic,Metabolic Clearance Rates,Rate, Metabolic Clearance,Rates, Metabolic Clearance
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D006073 Gout Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi. Gouts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014527 Uric Acid An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN. 2,6,8-Trihydroxypurine,Ammonium Acid Urate,Monosodium Urate,Monosodium Urate Monohydrate,Potassium Urate,Sodium Acid Urate,Sodium Acid Urate Monohydrate,Sodium Urate,Sodium Urate Monohydrate,Trioxopurine,Urate,Acid Urate, Ammonium,Acid Urate, Sodium,Acid, Uric,Monohydrate, Monosodium Urate,Monohydrate, Sodium Urate,Urate Monohydrate, Monosodium,Urate Monohydrate, Sodium,Urate, Ammonium Acid,Urate, Monosodium,Urate, Potassium,Urate, Sodium,Urate, Sodium Acid

Related Publications

Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
June 2023, Asian journal of surgery,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
January 1995, Clinical and experimental rheumatology,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
September 1992, Internal medicine (Tokyo, Japan),
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
March 1979, Journal of autism and developmental disorders,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
April 2000, Hinyokika kiyo. Acta urologica Japonica,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
December 1988, Journal of the American Podiatric Medical Association,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
June 2012, The Medical journal of Malaysia,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
August 1996, Southern medical journal,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
January 1984, Indian journal of pediatrics,
Y Nishida, and I Akaoka, and T Nishizawa, and M Maruki, and T Aikawa, and T Mitamura, and R Yokohari, and Y Horiuchi
September 1989, Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine,
Copied contents to your clipboard!