Factors affecting prognosis in pediatric patients with autosomal dominant polycystic kidney disease

Objective: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically inherited disease characterized by fluid-filled cysts developing from the renal tubule epithelium, typically resulting in end-stage kidney disease in middle age, with an incidence of 1/400-1/1000. The aim of this study was to evaluate our pediatric patients with ADPKD. Material and methods: Twenty-eight pediatric patients diagnosed with ADPKD and followed up in Çukurova University Faculty of Medicine, Department of Pediatric Nephrology were included in the study. While the clinical findings, physical examination findings, laboratory tests and genetic results of the patients, and the results of the radiological imaging were obtained from the records of the patients, 24-hour blood pressure monitoring was performed to evaluate the patients in terms of hypertension. Results: Of 28 patients, 15 (53.6%) were female and 13 (46.4%) were male. The mean age at diagnosis of the patients was 7.58±3.55 years. The mean follow-up period of the patients was 4.87±3.37 years. Parental consanguinity was present in 17.9% of the patients. The rate of family history of ADPKD was found to be 85.7%. PKD1 gene mutation was detected in 85.7% of the patients. Twelve (42.9%) patients had a family history of chronic renal failure (CRF), and the mean age of CRF in the family was 51.16±6.39 years. There was no significant difference between the mean height SDS at the time of diagnosis (0.49±1.61) and the mean height SDS at the last follow-up (0.44±1.33) of the patients (p=0.776). While hypertension was detected in 17.9% of the patients at the time of diagnosis by office measurements, hypertension was found in 25% of the patients at the last control (p=0.688). 53.6% of the patients were using ACEi. There was no significant difference between the mean eGFR values at the time of diagnosis and the mean eGFR values at the last follow-up (p=0.584). Proteinuria was found in 21.4% of the patients and microalbuminuria was found in 21.4% at the time of diagnosis, while proteinuria was found in 10.7% and microalbuminuria in 25% at the last follow-up. The mean total kidney volume was found to be 250.0±146.1 ml in the USG at the last follow-up of the patients. When evaluated according to 24-hour vital blood pressure measurements, total kidney volume and mean arterial blood pressure during the daytime (r=0.605, p=0.001), daytime systolic blood pressure (SBP) (r=0.550, p=0.002), mean arterial blood pressure at night (r=0.537, p=0.003) and nocturnal SBP (r=0.610, p=0.001) were positively correlated with significant correlation. A significant correlation was found between the patients' body mass index and total kidney volume (r=0.522, p=0.004). Nocturnal dipping was observed in SBP and/or DBP in 15.4% of the patients. Renal survival could not be evaluated because we did not have a patient with eGFR<90 ml/min/1.73m2 among those included in the study. Discussion/Conclusion: Proteinuria, microalbuminuria and hypertension are common in children with ADPKD. An increase in blood pressure is observed in children with ADPKD as the total kidney volume increases, and the incidence of hypertension increases.