The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
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BACKGROUND: To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). MATERIALS AND METHODS: 76 PKD patients with no comorbidity were enrolled in the study. Serum E-selectin levels were analyzed by enzyme-linked immunoabsorbent assay (ELISA). E-selectin gene S128R (561 A>C, rs: 5361) polymorphism was examined by polymerase chain reaction restriction fragment length (PCR-RFLP). Magnetic resonance imaging was performed at baseline evaluation and at the end of the 1st year to determine cyst enlargement and total kidney volume (TKV). RESULTS: No significant difference was identified between AA genotype and AC or CC variants of E-selectin gene S128R polymorphism in terms of age, disease duration, baseline cyst volume, cyst volume at the 12th month, baseline dominant cyst volume, and dominant cyst volume at the 12th month. In contrast, a significant difference was determined between the groups with regard to the change of TKV (2.9 ± 13.4 vs. 5.2 ± 16.3 mm3; respectively, p = 0.01). In the correlation analysis, the serum E-selectin level was significantly correlated to glucose, alanine transaminase, creatinine, calcium, phosphorus, total protein, albumin, and end diastolic volume (p = 0.0001, p = 0.001, p = 0.03, p = 0.021, p = 0.023, p = 0.002, p = 0.003, and p = 0.047, respectively). Multivariate logistic regression analysis demonstrated a 1.32-fold higher risk of cyst enlargement in patients with CC polymorphism when compared to AA genotype (p = 0.052), but not between AA and AC genotypes or CC and AC genotypes. CONCLUSION: PKD patients with CC variants of the E-selectin gene S128R polymorphism are at greater risk of cyst enlargement. The results of the present study should be confirmed with further studies with large sample size and longer duration of follow-up.

Alterations in biomechanical properties of the cornea among patients with polycystic kidney disease.

PURPOSE: The aim of this study was to evaluate the corneal biomechanical features in polycystic kidney disease (PKD) patients and compare them with the healthy individuals. METHODS: Totally 81 patients with a mean age of 48.46 ± 14.51 years and 60 control cases with a mean age of 44.68 ± 12.69 years were included in the study. All of the subjects underwent a complete ophthalmological examination, including visual acuity testing, biomicroscopic anterior and posterior segment examinations. Corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were evaluated with the ocular response analyzer, and the central corneal thickness was evaluated with Sirius® corneal topography. RESULTS: PKD patients had significantly increased CH values, without any alterations in IOP or CCT values, compared with the control cases (p:0.001). Among PKD patients, 23 were having liver cysts accompanying renal cysts. There was not any statistically significant difference between PKD patients with or without liver cysts regarding biomechanical properties of the cornea. However, both patient groups had statistically significantly increased CH values compared with the control cases. CONCLUSION: Patients with PKD present with higher CH values than age-matched controls. Larger studies are warranted to elucidate the alterations in corneal biomechanical properties and their clinical relevance in PKD patients.