A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report

摘要

Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in polycystin 1, transient receptor potential channel interacting (PKD1) and PKD2, and characterized by numerous cysts in various organs, primarily the kidneys and liver. The present case report is on a 33-year-old Chinese male patient who suffered from abdominal pain and hypertension, and presented with long-term infertility. Laboratory tests indicated that the patient had a normal renal function, while abdominal computed tomography demonstrated that the patient had enlarged kidneys with a volume of 1,127.21 cm³. In a semen analysis, no sperm was detected, while a subsequent testicular biopsy analysis demonstrated numerous mature sperms with progressive motility which suggests that the cysts of the epididymis and the dilated seminal vesicles may have obstructed the ejaculation of semen. Genetic testing identified that a novel missense mutation (c.9053delT) that was responsible for the disease. ADPKD has various disease severities, which depend on whether there is a PKD1 or PKD2 mutation and whether the mutation impairs the function of the polycystin protein. Therefore, genetic testing is important for the clinical diagnosis and prognosis of ADPKD patients, as well as prenatal diagnosis.