Mechanisms of male infertility in autosomal dominant polycystic kidney disease

Grenha, V.; Pereira, Bruno; Retroz, E.; Coelho, Humberto Eustáquio; Godinho, Ricardo; Temido, Paulo; Mota, Ali

doi:10.1016/s2341-4022(14)50009-2

Cited by 3 publications

(6 citation statements)

References 13 publications

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“…Seminal vesicle cysts are reported to be present in 40% to 60% of the ADPKD population. 11 However, many studies report a high prevalence of seminal vesicle cysts. A large portion of these findings may actually be megavesicles, which resemble cysts, with sonography.…”

Section: Discussionmentioning

confidence: 99%

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The Sonographic Appearance of Seminal Megavesicles, an Association With Autosomal Dominant Polycystic Kidney Disease: A Series Review

Carr

2021

Journal of Diagnostic Medical Sonography

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Megavesicles are an uncommon diagnostic finding during sonography of the bladder, especially when the examination is performed transabdominally. Although megavesicles are more likely seen with transrectal ultrasonography, computed tomogram (CT), vesiculography, or magnetic resonance imaging (MRI), it has been noted during transabdominal sonography for patients suffering from autosomal dominant polycystic kidney disease (ADPKD). When seminal vesicles become dilated, they are often visualized during transabdominal sonography. Two patient cases are provided of seminal megavesicles, associated with ADPKD and have documented sonographic findings. Both patient cases of megavesicles were discovered incidentally during the course of a renal sonogram. The importance of these diagnostic findings and the possible pathogenesis are provided.

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Section: Discussionmentioning

confidence: 99%

“…This defines the presence of megavesicles. 11 When seminal vesicles become dilated or engorged, with a lumen measurement greater than 1.5 cm, they are considered megavesicles. If only one seminal vesicle is dilated to greater than 1.5 cm, it is not considered a megavesicle and needs to be evaluated for other pathologic conditions.…”

Section: Discussionmentioning

confidence: 99%

The Sonographic Appearance of Seminal Megavesicles, an Association With Autosomal Dominant Polycystic Kidney Disease: A Series Review

Carr

2021

Journal of Diagnostic Medical Sonography

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“…ESRD in the mother of patient 5 with p. Arg3719Gln, infertility of patient 7 with p. Gln3395Ter, and vascular complications in patient 9 with p. Gln4042Ter mutations are in line with previous reports. [2202122] It has been shown that progressive cysts growth and renal enlargement due to PKD1 mutations are associated with the more severe clinical course of the disease resulting in ESRD in the average age of 53.4 years. [6]…”

Section: Discussionmentioning

confidence: 99%

“…Although men with ADPKD are usually fertile, studies have presented that Polycystic is expressed in the cilia and flagella and abnormal proteins can lead to male infertility. [22]…”

Section: Discussionmentioning

confidence: 99%

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

Bitarafan

Garshasbi

2019

J Res Med Sci

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Background: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 ( PKD1 ) and PKD2 , respectively, are the cause of autosomal dominant PKD (ADPKD). This genetically heterogeneous monogenic disorder is the most common inherited kidney disease. The disease manifests are progressive cyst growth, renal enlargement, and renal failure, due to abnormal proliferation of kidney tubular epithelium. Materials and Methods: In this study, mutation analysis of PKD1 and PKD2 genes in nine Iranian families was performed using next-generation sequencing. All patients met the diagnostic criteria of ADPKD. Results: Mutations were found in all 9 families in PKD1 gene, comprising 2 novel and 7 previously reported mutations. No mutation in PKD2 was identified. Conclusion: Finding more mutations and expanding the spectrum of PKD1 and PKD2 mutations can increase the diagnostic value of molecular testing in the screening of ADPKD patients.

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“…In patients with ADPKD, seminal vesicle cysts represent a common additional renal manifestation with a prevalence of 39-60%, as opposed to a prevalence of 5% in the general population; however, these cysts are rarely associated with infertility in male patients with ADPKD (41,42). A number of previous case reports regarding infertility and azoospermia in patients with ADPKD have been published, which suggest that the lack of PC-1 or PC-2 may result in the obstruction or atonicity of seminal vesicles or ejaculatory duct cysts and lead to ejaculation failure (43)(44)(45)(46)(47). In the present study, the ultrasound examination detected the presence of epididymis cysts and dilated seminal vesicles; however, the testicular biopsy identified mature sperm.…”

Section: Discussionmentioning

confidence: 99%

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

Meng

Shen

et al. 2018

Exp Ther Med

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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 3. 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.

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Mechanisms of male infertility in autosomal dominant polycystic kidney disease

Cited by 3 publications

References 13 publications

The Sonographic Appearance of Seminal Megavesicles, an Association With Autosomal Dominant Polycystic Kidney Disease: A Series Review

The Sonographic Appearance of Seminal Megavesicles, an Association With Autosomal Dominant Polycystic Kidney Disease: A Series Review

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

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

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