The challenges and views in precise diagnosis and treatment of Alport syndrome / 中华实用儿科临床杂志

ABSTRACT

Hereditary nephritis is also called Alport syndrome (AS), which is caused by mutations in COL4A3, COL4A4 and COL4A5 genes which encode α3, α4, and α5 chains of collagen type Ⅳ, respectively.Patients with AS present with progressive aggravation of asymptomatic microscopic hematuria with or without proteinuria and renal dysfunction in childhood.AS is one of the main causes of end-stage renal disease in children and adolescents.Extra-renal clinical phenotypes such as ocular and hearing impairment can be also accompanied in some patients.With the rapid development of medical diagnosis technology and the increasing popularization of molecular diagnosis techno-logy in recent years, especially the establishment of accurate diagnostic strategies, people have gained a great deal of knowledge about AS, and the diagnostic capability for AS is greatly enhanced.However, a series of medical and social issues including the accuracy of molecular diagnosis, treatment normalization, social and family ethics and privacy protection, AS management, and genetic intervention, etc.have come to the fore and posed challenges.Therefore, joint efforts of patients and doctors, social groups, and governments are required for protecting the health of AS patients.