Urine black aciduria and brown yellow disease
Introduction
Introduction to urinary aciduria and brownish yellow disease Urinary aciduria and brown vein disease (alkaptonuriaetochronosis) are autosomal recessive diseases, and uric acid accumulates in various organs in the body for a long time, which can cause browning disease. Black urine, skin brown pigmentation and arthritis are unique triads of this disease. basic knowledge The proportion of sickness: 0.004% - 0.009% Susceptible people: generally appear after 30 to 40 years old Mode of infection: non-infectious Complications: Osteoarthritis Vasculitis
Cause
Urinary aciduria and the cause of brownish yellow disease
(1) Causes of the disease
Urinary aciduria and brown vein disease (alkaptonuria et ochronosis) are autosomal recessive diseases.
(two) pathogenesis
Urinary acid accumulates in various organs in the body for a long time, which can cause browning disease, black urine, skin brown pigmentation and arthritis. It is a unique triad of this disease. Under normal circumstances, tyrosine is converted to hydroxyphenylpyruvate. And then converted to urinary acid by hydroxyphenylpyruvate oxidase. When hereditary lack of urinary acid oxidase, tyrosine metabolism ends at the level of uric acid, no further conversion to acetoacetate, thereby excess urine Black acid is excreted in the urine and oxidized into melanin in the air, making the urine dark.
Prevention
Urinary uric acid and browning disease prevention
Uroic aciduria and brownish yellow disease are autosomal recessive genetic diseases and should be started from genetic diseases. The pollution impact caused by environmental pollution is serious and far-reaching. Therefore, do a good job of "three wastes", avoid overdose exposure to ionizing radiation, mutagens and teratogens, and promote smoking cessation (already that alcohol and nicotine have damage to germ cells), for a variety of new chemical products Strict mutagenicity testing is carried out before leaving the factory and the necessary restrictions are imposed on its use. This comprehensive environmental protection measure is very important to prevent possible genetic damage.
Complication
Urinary aciduria and complications of brownish yellow disease Complications Osteoarthritis vasculitis
Urinary aciduria and brownish yellow disease: chronic multiple osteoarthrosis; joint exudate fluid; rheumatoid factor positive.
Rheumatoid factor (RF) can be divided into IgM, IgA, IgG, IgD, IgE type 5 (Note: described in clinical internal medicine as type IV, no IgD type; but described in laboratory diagnostics as 5 Type) is a type of autoantibodies against the epitopes on IgG FC fragments in rheumatoid arthritis serum. Rheumatoid factor-positive patients are more often associated with extra-articular manifestations, such as subcutaneous nodules and vasculitis. The IgM type RF positive rate was 60%-78%.
After synovial injury of the knee joint, the synovial membrane showed hyperemia, edema and neutrophil infiltration. Synovial vasodilation, plasma and extracellular osmosis, produce a large amount of exudate, while synovial cells are active, producing a large amount of mucin. The exudate contains red blood cells, white blood cells, bilirubin, fat, mucin and cellulose. In severe cases, the joint effusion is bloody. Joint swelling and limited mobility.
Osteoarthrosis, also known as osteoarthritis, proliferative arthritis, senile arthritis, degenerative arthritis, hypertrophic arthritis, etc., is a chronic joint disease, the main change is articular cartilage degenerative disease and secondary bone Hyperplasia.
Symptom
Urinary uric acid and brownish yellow symptoms Common symptoms Calcified uric acid lower back stiffness and pain ears, nose, cartilage turn blue
In black, only black urine and diapers are black-stained. Generally, skin darkness occurs after 30 to 40 years old, especially on the cheeks, forehead, sputum and external genitalia. Mucosa, sclera, nail, caries and cartilage have different degrees of change. Black, ear cartilage thickening into blue-black or gray-blue, chronic multiple bone and joint disease more than 30 to 40 years old, in addition to cartilage pigmentation, but also with progressive changes, lower back pain, stiffness, limited mobility And the normal lumbar spine physiological curvature disappeared, after a few years, the cervical vertebrae and the entire spine were invaded, so that the spine was stiff, X-ray showed intervertebral disc calcification, narrow intervertebral space and osteophyte formation, and the disease continued to progress, involving the joints of the extremities such as the hip. Knee and shoulder joints, joint exudation occurred in some cases, uric acid appeared in the exudate, minimal involvement of small joints in the hands and feet, no systemic symptoms, positive rheumatoid factor test, urine and sweat in patients were brown, easy to contaminate underwear Pants, ear wax is brownish black.
Examine
Examination of urinary aciduria and brownish yellow disease
The condition continues to progress, which may involve large joints such as the hips, knees and shoulder joints. In some cases, joint exudate occurs, and the rheumatoid factor test is positive.
X-ray showed intervertebral disc calcification, narrowing of intervertebral space and osteophyte formation at the edge of the vertebrae. Histopathology: there was light brown pigment in the dermis, silver staining was not stained, stained with cresyl violet and methylene blue, black color, vascular endothelial cells, There are fine brown particles in the basement membrane of sweat glands, macrophages, etc., and brown pigments are also seen in collagen fiber bundles and elastic fibers.
Diagnosis
Diagnosis and diagnosis of urinary aciduria and brownish yellow disease
According to the blackening of the urine, skin, mucous membranes, tendons and other extensive blackening and osteoarthrosis, the possibility of this disease should be considered. Urine chromatography can be used to check the diagnosis of urinary acid. Acquired brownish yellow disease caused by the sulfhydryl group contained in the urine, no uric acid in the urine, and no joint disease.
