Achondroplasia and skeletal deformities

Introduction Rickets and osteomalacia are bone diseases caused by vitamin D deficiency and different clinical forms of different ages. Bone tissue lesions are mainly cartilage calcification deficiency, thickening of the osteoid layer, and various bone tissue cells are not active. In addition to hyperhidrosis, irritability, poor nighttime sleep, and high abdominal symptoms, infants and young children often develop wrist and ankle swelling, ribs are hemispherical deformities, chicken breasts, square skulls, and lower limbs are O-shaped or X-shaped. Malformations, children are often accompanied by systemic growth and dysplasia. Early symptoms of adult rickets are often not obvious, only the pain of the waist and legs, gradually develop into persistent systemic bone pain, rib tenderness is obvious, walking is inconvenient, the long-term disease of the spine thoracic kyphosis, hunchback, thoracic vertebrae can be bent, length Shortened and prone to fractures. There may be recessive or explicit hand and foot. Often accompanied by dyspepsia and other malnutrition disorders.

Cause

Rickets and osteomalacia are bone diseases caused by vitamin D deficiency and different clinical forms of different ages. Bone tissue lesions are mainly cartilage calcification deficiency, thickening of the osteoid layer, and various bone tissue cells are not active. Long-term divorced, pregnant and lactating women with insufficient vitamin D content, fatty sputum, liver, biliary tract disease, etc., can not convert vitamin D into 1.25-(OH)2-D3, so the intestinal mucosa can not absorb calcium or the amount of absorption is limited, and Phosphorus and calcium excretion increased, serum calcium decreased, inorganic phosphorus decreased significantly, bone matrix and cartilage calcium salt were lacking, and new bone formation was insufficient. Sometimes the process of breaking bones exceeds the process of osteogenesis. Negative balance of calcium and phosphorus, long-term calcification of sclerotherapy or decalcification of cartilage tissue, elevated serum alkaline phosphatase, hypocalcemia will stimulate parathyroid gland hyperplasia, excessive secretion of parathyroid hormone mobilizes extracellular calcium Move to maintain normal levels of blood calcium. Renal tubules reduce phosphorus reabsorption and blood phosphorus decreases further. Therefore, the patient's blood calcium can be normal, but due to the obvious reduction of phosphorus, although there is no hand and foot sputum, bone lesions are often more serious. Some patients with parathyroid gland compensation, bone tissue destruction, limited bone salt migration, blood calcium often decreased significantly, the emergence of severe hand and foot spasm.

an examination

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The diagnosis of rickets and rickets depends mainly on medical history, symptoms and signs, and the diagnosis of x-rays is required. In addition to hyperhidrosis, irritability, poor nighttime sleep, and high abdominal symptoms, infants and young children often develop wrist and ankle swelling, ribs are hemispherical deformities, chicken breasts, square skulls, and lower limbs are O-shaped or X-shaped. Malformations, children are often accompanied by systemic growth and dysplasia. Early symptoms of adult rickets are often not obvious, only the pain of the waist and legs, gradually develop into persistent systemic bone pain, rib tenderness is obvious, walking is inconvenient, the long-term disease of the spine thoracic kyphosis, hunchback, thoracic vertebrae can be bent, length Shortened and prone to fractures. There may be recessive or explicit hand and foot. Often accompanied by dyspepsia and other malnutrition disorders. The X-ray film of the sputum lesion showed a brush-like change at the junction of the long bone marrow, and it was cup-shaped when it was heavy. The skeletal system had different degrees of osteoporosis, calcium deficiency or decalcification, and the long cortical bone became thin and curved. Early X-rays are sometimes difficult to distinguish from osteoporosis. Later, it can be seen that the pseudo-fracture line (Looser band) is symmetric and transparent. Patients with severe rickets may have osteoporosis, spontaneous fractures, and vertebral bodies with biconcave deformities. Laboratory tests for normal or low blood calcium, decreased blood phosphorus, and elevated blood AKP. Urinary calcium and phosphorus are reduced.

Differential diagnosis

The proximal end of the femur is widened: the hereditary abnormal cartilage dysplasia is usually in the proximal part of the femur, the proximal humerus and the proximal end of the tibia. Typical X-ray findings are: bone formation defects and skeletal deformities, hip valgus and thickening of the proximal femur, and the ulnar deflection of the wrist is relatively shortened.

Vitamin D deficiency rickets are a common child nutritional deficiency. Due to the lack of vitamin D, it causes a series of changes in systemic calcium and phosphorus metabolism and bone changes. Severe cases lead to skeletal deformities, affecting the normal growth and development of children, and reduce the body's resistance, reducing immunoglobulins, easy to concurrent with various infections, and make their condition worse, prolonged disease, should be actively prevented.

The diagnosis of rickets and rickets depends mainly on medical history, symptoms and signs, and the diagnosis of x-rays is required. In addition to hyperhidrosis, irritability, poor nighttime sleep, and high abdominal symptoms, infants and young children often develop wrist and ankle swelling, ribs are hemispherical deformities, chicken breasts, square skulls, and lower limbs are O-shaped or X-shaped. Malformations, children are often accompanied by systemic growth and dysplasia. Early symptoms of adult rickets are often not obvious, only the pain of the waist and legs, gradually develop into persistent systemic bone pain, rib tenderness is obvious, walking is inconvenient, the long-term disease of the spine thoracic kyphosis, hunchback, thoracic vertebrae can be bent, length Shortened and prone to fractures. There may be recessive or explicit hand and foot. Often accompanied by dyspepsia and other malnutrition disorders. The X-ray film of the sputum lesion showed a brush-like change at the junction of the long bone marrow, and it was cup-shaped when it was heavy. The skeletal system had different degrees of osteoporosis, calcium deficiency or decalcification, and the long cortical bone became thin and curved. Early X-rays are sometimes difficult to distinguish from osteoporosis. Later, it can be seen that the pseudo-fracture line (Looser band) is symmetric and transparent. Patients with severe rickets may have osteoporosis, spontaneous fractures, and vertebral bodies with biconcave deformities. Laboratory tests for normal or low blood calcium, decreased blood phosphorus, and elevated blood AKP. Urinary calcium and phosphorus are reduced.

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