Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. There are some reports in the literature concerning unilateral ADPKD. However, in adults, only a few cases of unilateral ADPKD with agenesis of contralateral kidney have been reported. We present a case of unilateral ADPKD with agenesis of contralateral kidney in a 66-yr-old man. Radiographic images showed the enlarged right kidney with multiple variable-sized cysts and the absence of the left kidney. The diagnosis of ADPKD was confirmed by the family screening. The patient received maintenance hemodialysis for endstage renal disease. We report a case of unilateral ADPKD associated with contralateral renal agenesis in a 66-yr-old male patient with a literature review.
Abdomen/pathology ; Aged ; Female ; Human ; Kidney/abnormalities* ; Male ; Pedigree ; Polycystic Kidney, Autosomal Dominant/diagnosis* ; Polycystic Kidney, Autosomal Dominant/pathology* ; Polycystic Kidney, Autosomal Dominant/physiopathology ; Radiopharmaceuticals/metabolism ; Technetium Tc 99m Dimercaptosuccinic Acid/metabolism

Autosomal dominant polycystic kidney disease (ADPKD) is a most common inherited renal disease, about 50% with a family history, although the exact etiology not yet clear. To date, ADPKD, a multisystem disorder without effective preventive and therapeutic means, has been shown to be detrimental to human health. Recent studies show that severe oligoasthenozoospermia, necrospermia, immotile sperm, azoospermia, epididymal cyst, seminal vesicle cyst, and ejaculatory duct cyst found in male ADPKD patients may lead to male infertility, though the specific mechanisms remain unknown. Structural anomaly of spermatozoa, defect of polycystin, mutation of PKD genes, and micro-deletion of the AZF gene could be the reasons for the higher incidence of abnormal semen quality in male ADPKD patients. Assisted reproductive techniques can increase the chances of pregnancy, whereas the health of the offspring should be taken into consideration. This article presents an overview of reproductive issues concerning infertile male ADPKD patients from the perspective of the morbidity, pathophysiological mechanism, diagnosis, and management of the disease.
Cysts ; pathology ; Ejaculatory Ducts ; pathology ; Female ; Humans ; Infertility, Male ; physiopathology ; Kidney ; pathology ; Male ; Mutation ; Polycystic Kidney, Autosomal Dominant ; physiopathology ; Pregnancy ; Reproductive Techniques, Assisted ; Semen Analysis ; Spermatozoa ; pathology

OBJECTIVE: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function. METHODS: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization. RESULTS: The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene. CONCLUSION The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree.
DNA Mutational Analysis ; Female ; Frameshift Mutation ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Pedigree ; Polycystic Kidney, Autosomal Dominant/physiopathology* ; Protein Kinases/genetics* ; Protein Transport/genetics* ; Whole Exome Sequencing

Autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease, is characterized by the development of hypertension and end stage renal disease. An increase in the activity of the renin-angiotensin system, due to a renal ischemia caused by cyst expansion, contributes to the development of hypertension and renal failure in ADPKD. Recently, the angiotensinogen (AGT) gene, M235T, and angiotensin II type 1 receptor (ATR) gene, A1166C, polymorphisms have been associated with the susceptibility to develop hypertension and renal disease. We hypothesized that the AGT M235T and ATR A1166C polymorphisms could account for some of the variability in the progression of ADPKD. Genotyping was performed in 108 adult patients with ADPKD, and 105 normotensive healthy controls, using PCR and restriction digestion. We analyzed the effects of the AGT M235T and ATR A1166C polymorphisms on hypertension and age at the end stage renal disease (ESRD). Of the 108 patients with ADPKD, 64 (59%) had hypertension and 24 (22%) reached the ESRD. The prevalence of hypertension were; [MM+MT], [TT] genotypes, 60%, 59% (p=1.00) ; [AA], [AC+CC] genotypes, 60%, 50% respectively (p=0.54). The ages at the onset of ESRD were; [MM+MT], [TT] genotypes, 50 +/- 9 years, 56 +/- 8 years (p=0.07) ; [AA], [AC+CC] genotypes, 54 +/- 8 years, 52 +/- 14 years, respectively (p=0.07). There were no differences in the prevalence of hypertension and the ages at the ESRD in relation to the AGT M235T and ATR A1166C polymorphisms. We suggest that the AGT and ATR gene polymorphisms would not have an effect on hypertension or the ESRD in ADPKD.
Adult ; Age of Onset ; Angiotensinogen/*genetics ; Disease Progression ; Female ; Human ; Hypertension/epidemiology/etiology ; Kidney Failure, Chronic/epidemiology/etiology ; Male ; Middle Aged ; Polycystic Kidney, Autosomal Dominant/complications/*genetics/physiopathology ; Polymorphism (Genetics) ; Prevalence ; Receptor, Angiotensin, Type 1 ; Receptors, Angiotensin/*genetics

OBJECTIVE: To evaluate the effects of cyst ablation with absolute ethanol in autosomal-dominant polycystic kidney disease (ADPKD) patients with symptomatic cysts. MATERIALS AND METHODS: Using absolute ethanol, cyst ablation was performed in 11 patients with documented ADPKD who suffered cyst pain refractory to medical treatment. An ethanol solution was instilled into the largest symptomatic cysts through a catheter. We assessed the therapeutic efficacy of the procedure by tracking subjective pain relief during a 3 to 24-month follow-up period after ablation. RESULTS: At follow-up, we found that the duration of subjective pain relief was 12 to 24 months in seven patients, 4 to11 months in one, and less than 3 months in three. CONCLUSION: Selective ablation of a symptomatic cyst may be a valid option in managing chronic pain caused by one or a few large cysts in ADPKD patients.
Adult ; Aged ; Contrast Media/administration & dosage ; Ethanol/*therapeutic use ; Female ; Follow-Up Studies ; Human ; Male ; Middle Aged ; Pain, Intractable/etiology/physiopathology/*therapy ; Palliative Care/methods ; Polycystic Kidney, Autosomal Dominant/physiopathology/radiography/*therapy ; Sclerotherapy/*methods ; Solvents/therapeutic use ; Tomography, X-Ray Computed ; Treatment Outcome