Knee osteoarthritis is characterized by degeneration of the articular cartilage and bone hyperplasia, expressed as pain, stiffness, swelling and limited activity in clinical practices. It belongs to the category of "tendon syndrome" in traditional Chinese medicine. The article aims to summarize the researches of "tendon syndrome" , and help to deepen the understanding of knee osteoarthritis underlying the treatment of "tendon syndrome" .

This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results. His ALPL gene mutation came from c.228delG mutation in his mother and c.407G>A compound heterozygous mutation in his father. His aunt carried c.228delG mutation. The c.407G>A mutation had been reported as the pathogenic mutation of HPP, and c.228delG mutation was a novel pathogenic mutation. Hypophosphatasia is caused by ALPL gene mutation, and ALPL gene detection is an effective diagnostic method. This study expands the mutation spectrum of ALPL gene and provides a theoretical basis for genetic diagnosis of this disease.
Alkaline Phosphatase ; genetics ; Carrier Proteins ; chemistry ; Female ; Heterozygote ; Humans ; Hypophosphatasia ; etiology ; genetics ; Infant ; Male ; Mutation ; Pedigree