ArticleExperimental and therapeutic medicine2019
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.BMC medical genomics · 2025Article
- Secondary infertility due to necrospermia in men with autosomal-dominant polycystic kidney disease: a report of two cases.CEN case reports · 2024Article
- Article
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4 authors at 2 institutions in 1 country.
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Abstract
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 cm
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