Retrospective evaluation of the relationship between autosomal dominant polycystic kidney patients followed up at Düzce University Medicine Faculty Hospital and genetic mutation distribution and disease progression

Objective: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease characterized by cyst formation in bilateral kidneys and is one of the common causes of end-stage renal failure. We wanted to determine the genetic mutation types of our patients followed in our center, to examine the relationship between the clinical findings of the disease, the presence of hypertension and increased kidney volumes, and the mutation types, the effect of the antihypertensive treatments used on proteinuria, and the relationship between serum laboratory values and disease progression. This study aimed to evaluate our patients diagnosed with ADPKD. Materials and Methods: Our study was conducted in a single center at Düzce University Research and Practice Hospital, Department of Internal Medicine and Department of Nephrology; It was conducted in the Nephrology Polyclinic between January 2018 and October 2023, with 50 patients diagnosed with autosomal dominant polycystic kidney disease and being followed up. Urine and blood samples were taken from the patients for hemogram, complete urinalysis, spot urine protein/creatine ratio, and biochemistry tests. For genetic testing, an external laboratory consent form was obtained and EDTA whole blood samples were sent to the external center laboratory with appropriate transport. MRI was planned for patients who had no contraindications and who agreed, and total kidney volumes were calculated. All data entries were recorded with the IBM SPSS Statistics 21 program. The results were evaluated retrospectively using Duzce University electronic record data and patient file information. Results: In our patient group, the number of patients carrying the PKD1 gene is 16 (32%), the number of patients carrying the PKD2 gene is 30 (60%), while the number of patients carrying both genes is 4 (8%). In our study, 37.5% of patients with comorbidities had the PKD1 gene, 51.7% had the PKD2 gene, and 50% carried both genes. In terms of progression to ESRD, 6.3% of patients with the PKD1 gene were receiving dialysis treatment, while 16.7% of patients with the PKD2 gene and 50% of those with both genes were receiving dialysis treatment. A significant difference was found in terms of the presence of HT (p = 0.006). HT was found in 32 of our 50 patients, while HT was not detected in 18 of them. The average age of patients with HT was 51.78, while the average age of patients without HT was 41.78. Analyzes based on gender revealed that 20 (62.5%) of 32 HT patients were male and 12 (37.5%) were female, and similar to the literature, the presence of HT was more common in men than in women. When we looked at the overall patients diagnosed with HT, there was a significant difference in urea (p=0.006), creatine (p<0.001), GFR (p<0.001) and calcium (p=0.003). Consistent with the literature, GFR values were found to be lower in the hypertensive patient group in our study. While 19 of our 32 patients diagnosed with HT were receiving ACE-I/ARB treatment, 13 patients were not receiving this treatment. It was observed that there was no significant difference in the relationship between hemoglobin, NLR, urea, creatine, GFR, calcium, phosphorus, parathyroidism and proteinuria between patients diagnosed with HT who did not receive ACE-I/ARB treatment and those who did. When we look at the general population of patients diagnosed with HT, it is seen that there is no significant difference in hemoglobin, NLR, phosphorus, parathyroidism and proteinuria (p>0.05); There was a significant difference in urea (p=0.023), creatine (p<0.001), GFR (p<0.001) and calcium (p=0.003). Conclusion: Total kidney volume increases in patients diagnosed with ADPKD and hypertension is a common accompanying clinical finding. Since it is one of the most important potentially treatable findings, preferred antihypertensive treatment and blood pressure monitoring are important in disease progression. Since it is a hereditary disease and our study covers a limited area, the effect of the distribution of genetic mutation types on the course of ESRD reflects region-specific results, and we believe that this issue can be further clarified with multicenter and larger series studies.