Alport syndrome is one of the most common hereditary kidney diseases.Its clinical phenotype is closely correlated with other genetic conditions,as well as the environment,in addition to the genetic variations associated with the disease.As a result,even members of the same family who have similar genotypes may display a different clinical phenotype.This study investigates a patient with chronic kidney disease from a complex family in Guang'anmen Hospital,China Acad-emy of Chinese Medical Sciences,clinical information about the patient and their family members was gathered,and third-generation gene sequencing technology was used to perform genetic analysis on the patient's peripheral blood DNA as well as the DNA of several other family members.The findings indicate that several members of the family have the gene mutation for COL4A5[c.152G＞A(p.Gly51Glu)]that causes Alport syndrome.The goal of the article is to increase clinical doctors'comprehension of the symptoms and genetic patterns of the disease by reviewing the clinical features and prognosis of X-linked Alport syndrome and analyzing the occurrence of several afflicted family members.
维普
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