Question
My child, who is 7 years old, has hypophosphatemic rickets with antidysrhythmic deficiency since birth. After treatment, she has mild residual symptoms, with a slight curvature of the legs. Will this disease interfere with her growth? How can we assist her?
Answer
① Non-specific neuropsychiatric symptoms. These are more common in the early stages of rickets, in infants under 1 year of age. Symptoms include night terrors, night crying, restlessness, poor deep sleep, sweating, and acne on the pillow. As the condition improves, symptoms such as muscle relaxation, abdominal distension, anemia, and enlargement of the liver and spleen may appear. ② Skeletal changes are the main symptoms of the disease. At 3 to 6 months of age, symptoms may include cranial sclerosis, brachycephaly, delayed closure of the anterior fontanelle, and as the condition improves, periosteal calcification, hand and foot pitting, and costochondral concavity (Mallory’s keyhole). Long-term severe rickets can lead to severe bone deformities such as pigeon chest, funnel chest, X-shaped legs, O-shaped legs, or spinal curvature. ③ Changes in blood electrolytes. Initially, blood calcium is normal and blood phosphorus is slightly low, with decreased alkaline phosphatase; in the severe stage, both blood calcium and phosphorus are elevated, and a calcium phosphate product above 30 can help confirm the diagnosis. ④ Changes in X-rays are more helpful in diagnosing the disease. They can reflect additional pathological changes in the bones. Typical X-rays show widening of the growth plates of long bones, blurred fibrous preparation lines in the early stages, cupping of bone ends in the later stages forming a brush-like appearance, disappearance of fibrous preparation lines, and sparse bone density. Sometimes fractures or deformities can be seen. The goal of treatment is to prevent deformities and complications by controlling the remission phase.