Lower back stiffness and pain

Introduction The joint disease of brownish yellow disease often presents as stiffness and pain in the lower back. The prevalence of brownish yellow disease reported abroad is 3 to 5 per million population. The incidence ratio of males and females is about 2:1. More than 600 cases have been reported since the onset of 20 to 40 years old. There are currently no other relevant content descriptions.

Cause

(1) Causes of the disease

The disease is a rare autosomal genetic disease. Its exact autosomal variation is still unclear.

(two) pathogenesis

The metabolic pathway by which phenylalanine and tyrosine are converted to acetoacetate, and uronic acid (HGA or 2,5-dihydroxyphenylacetic acid) is the last compound containing a complete aromatic ring in this metabolic pathway. The enzyme that catalyzes the cleavage of the aromatic ring is urinary acid oxidase, which is normally present in the soluble part of the liver and kidney tissues. This enzyme is highly specific for the breakdown of uric acid and does not contain this enzyme in tissues other than liver and kidney. In this patient, the activity of this enzyme is completely absent in the liver and kidney, and as a result, the uric acid is not decomposed into acetoacetate and fumaric acid, so that other metabolic mechanisms are needed to treat the uric acid. The kidney has a high clearance rate of uric acid, and the renal tubule actively secretes uric acid. Once the kidney excretes the uric acid, it gradually oxidizes to form a polymer that causes urinary discoloration. The mechanism by which uric acid is deposited on tissues causing brown jaundice is still unclear. Uric acid has a tendency to deposit on the skin and cartilage, where it can be combined by physical attraction. In addition, the decomposition product of homogentisic acid can irreversibly bind to connective tissue to form a polymer which can cause pigmentation. After the tissue is stained, the texture is fragile and may break, resulting in degenerative lesions in the intervertebral disc and joint. In addition, homogentisate can also directly act on collagen synthesis by inhibiting lysyl hydroxylase.

Pathology: connective tissue and cartilage blackening are the basic pathological changes of this disease. Uric acid can be deposited on the skin, cornea, cartilage, tendons, ligaments, large intima, endocardium, thyroid, lungs and kidneys, making these organs black, involving cartilage can lead to exfoliation of subchondral bone .

an examination

Related inspection

Bone and joint MRI

The disease is autosomal recessive, usually occurring in the 20 to 40 years old. The incidence ratio of males and females is about 2:1.

Mammalian and human liver and kidney contain a variety of enzymes to gradually oxidize phenylalanine and tyrosine in food to fumaric acid and acetoacetic acid. These oxidases include phenylalanine hydroxylase and tyrosine aminotransferase. Hydroxypyruvate oxidase, urinary acid oxidase, etc., the latter contains a sulfhydryl group, requires iron ions and vitamins to keep iron in a reduced form. When the above different enzymes are defective, it may lead to an increase in different metabolic substrates, and the clinical manifestations are different.

1. Brownish yellow disease: It takes a long time for patients with aciduria to show clinical browning. Most patients develop brown pigmentation in the nails and ear cartilage (mainly in the ear and ear) at the age of 20 to 30, and can appear as coal black pigment on the costal cartilage, laryngeal cartilage, tracheal cartilage, conjunctiva and even the cornea. calm. The patient's sweat can also be brown, and the clothes under the armpits and groin can be dyed brownish yellow.

(1) Joint disease: The most serious complication of this disease is joint disease. Unlike rheumatoid arthritis, this disease mainly invades the large joints such as the spine, shoulders, and hips, and the joints of the hands and feet are rarely affected. Male patients develop early and heavier, knee joints are most often involved, and the degree of damage is also the heaviest. Spinal lesions are also the most common bone and joint damage in this disease, often manifested as lower back stiffness and pain. The lesions occur in the lumbar vertebrae. As the disease progresses, it can affect the thoracic vertebrae, hinder the movement of the spine, and the physiological curvature of the spine disappears. Disc herniation and calcification are also characteristic of this disease. Typical patients are antelope duck gait. After a mild trauma to the affected knee joint, it can cause fluid accumulation in the joint cavity. The synovial fluid is non-inflammatory and mainly contains monocytes. Arthroscopic examination showed that the synovial membrane was black stained. Joint contracture can occur gradually after the disappearance of the joint cavity effusion.

(2) Skin lesions: caused by the deposition of urinary acid pigment particles in the dermis and sweat glands. It is mostly brown in the tip of the nose, the ear and the rib-cartilage junction, and can also be distributed in the shape of a butterfly on the bridge of the nose and cheeks. The armpits and perineum are parts of the sweat glands, often dark brown or blue-black, which can make the clothes close to these parts brown. Occasionally nails can also be blue-gray. Auricular stiffness and calcification are often associated with the later stages of the disease. Brown-yellow pigmentation can sometimes occur in extraocular tissues such as the sclera, conjunctiva, and cornea. The sclera is brown and is usually limited to the exposed area of the cleft palate.

(3) Others: Some patients may have heart valve disease, mainly aortic valve stenosis. Chronic prostatitis can occur in male patients with a longer course of disease, which is caused by the formation of stones in the alkaline secretion of the prostate. Porous black kidney stones can occur in a small number of patients.

2. Aciduria arthritis: As the metabolic substrate such as urinary acid accumulates in the joint capsule bursa, it can cause the destruction of the articular surface. The early symptoms are knee, hip, shoulder and other joint pain, and the activity is limited. Late can involve the spine. However, the hands, wrists, elbows, ankles, and foot joints are less affected. The joints may have red and swollen exudate, the synovial fluid is non-inflammatory, and there are more pyrophosphate and calcium salts deposited.

3. Urine changes: The urine of patients with typical urinary acid uric acid is black, or after the urine is left for a period of time, it first turns black from the surface, and gradually all the urine changes to dark brown.

Black urine, typical pigmentation of the skin, and characteristic X-ray findings of the large joints such as the spine, shoulders and knees constitute the three major characteristics of brownish yellow disease, which can be diagnosed accordingly. When there are conditions, you can do a special examination of blood and urine for uric acid.

Differential diagnosis

Right back pain is likely to be a symptom of cholecystitis, a cholecystitis caused by bacterial infection or chemical stimuli (changes in bile composition), a common disease of the gallbladder. In abdominal surgery, the incidence rate is second only to appendicitis. This disease is more common in middle-aged people aged 35-55 years. The incidence of females is more than that of males, especially in obese women with multiple pregnancies. Pain in the back or hip of the thoracolumbar segment may be the main symptom of spinal vascular malformation. Spinal vascular malformation is less common, the most common manifestation is subarachnoid hemorrhage or spinal cord hemorrhage. Spinal vascular malformations can occur in any segment of the spinal cord, but the most common are the cervical segments and cones. Soreness in the lower back: 1. Chronic: Due to poor long-term posture, wearing high heels or pregnancy, etc., the spine suffers from abnormal pressure for a long time. 2. Acute: spinal fracture, spine? or acute lumbosacral strain.

The disease is autosomal recessive, usually occurring in the 20 to 40 years old. The incidence ratio of males and females is about 2:1.

Mammalian and human liver and kidney contain a variety of enzymes to gradually oxidize phenylalanine and tyrosine in food to fumaric acid and acetoacetic acid. These oxidases include phenylalanine hydroxylase and tyrosine aminotransferase. Hydroxypyruvate oxidase, urinary acid oxidase, etc., the latter contains a sulfhydryl group, requires iron ions and vitamins to keep iron in a reduced form. When the above different enzymes are defective, it may lead to an increase in different metabolic substrates, and the clinical manifestations are different.

1. Brownish yellow disease: It takes a long time for patients with aciduria to show clinical browning. Most patients develop brown pigmentation in the nails and ear cartilage (mainly in the ear and ear) at the age of 20 to 30, and can appear as coal black pigment on the costal cartilage, laryngeal cartilage, tracheal cartilage, conjunctiva and even the cornea. calm. The patient's sweat can also be brown, and the clothes under the armpits and groin can be dyed brownish yellow.

(1) Joint disease: The most serious complication of this disease is joint disease. Unlike rheumatoid arthritis, this disease mainly invades the large joints such as the spine, shoulders, and hips, and the joints of the hands and feet are rarely affected. Male patients develop early and heavier, knee joints are most often involved, and the degree of damage is also the heaviest. Spinal lesions are also the most common bone and joint damage in this disease, often manifested as lower back stiffness and pain. The lesions occur in the lumbar vertebrae. As the disease progresses, it can affect the thoracic vertebrae, hinder the movement of the spine, and the physiological curvature of the spine disappears. Disc herniation and calcification are also characteristic of this disease. Typical patients are antelope duck gait. After a mild trauma to the affected knee joint, it can cause fluid accumulation in the joint cavity. The synovial fluid is non-inflammatory and mainly contains monocytes. Arthroscopic examination showed that the synovial membrane was black stained. Joint contracture can occur gradually after the disappearance of the joint cavity effusion.

(2) Skin lesions: caused by the deposition of urinary acid pigment particles in the dermis and sweat glands. It is mostly brown in the tip of the nose, the ear and the rib-cartilage junction, and can also be distributed in the shape of a butterfly on the bridge of the nose and cheeks. The armpits and perineum are parts of the sweat glands, often dark brown or blue-black, which can make the clothes close to these parts brown. Occasionally nails can also be blue-gray. Auricular stiffness and calcification are often associated with the later stages of the disease. Brown-yellow pigmentation can sometimes occur in extraocular tissues such as the sclera, conjunctiva, and cornea. The sclera is brown and is usually limited to the exposed area of the cleft palate.

(3) Others: Some patients may have heart valve disease, mainly aortic valve stenosis. Chronic prostatitis can occur in male patients with a longer course of disease, which is caused by the formation of stones in the alkaline secretion of the prostate. Porous black kidney stones can occur in a small number of patients.

2. Aciduria arthritis

As the metabolic substrate such as uric acid is accumulated in the joint capsule bursa, it can cause the destruction of the articular surface. The early symptoms are joint pain such as knee, hip and shoulder, and the activity is limited. Late can involve the spine. However, the hands, wrists, elbows, ankles, and foot joints are less affected. The joints may have red and swollen exudate, the synovial fluid is non-inflammatory, and there are more pyrophosphate and calcium salts deposited.

3. Urine changes

The urine of a typical patient with uric acid uric acid is black, or after the urine has been left for a period of time, it first turns black from the surface and gradually turns all urine into dark brown.

Black urine, typical pigmentation of the skin, and characteristic X-ray findings of the large joints such as the spine, shoulders and knees constitute the three major characteristics of brownish yellow disease, which can be diagnosed accordingly. When there are conditions, you can do a special examination of blood and urine for uric acid.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.