Evaluation of kidney cyst in children

SUMMARY EVALUATION OF KIDNEY CYST IN CHILDREN Objective: In our study, it was aimed to evaluate the clinical, laboratory, radiological images and genetic mutations of patients with kidney cysts and to evaluate cystic kidney diseases as a whole and to compile their common points and differences. Material Method: Patients aged 0-18 years, who applied to Aydın Adnan Menderes University Practice and Research Hospital, Department of Pediatric Nephrology, between 01.01.2013 and 01.01.2022, were diagnosed with kidney cysts and underwent laboratory, genetic tests and ultrasound and kidney imaging necessary for the differential diagnosis of the cyst, were included in the study. 109 patients who were followed up with kidney cysts were identified, and after examining all files retrospectively, patients with deficiencies in test results were excluded from the study, 61 patients were included in the study, and the deficiencies were completed when the patients with a missing anamnesis came to the control. Age at diagnosis, complaints at presentation, chronic diseases, family history, physical examination, laboratory results, imaging findings, genetic mutation results and follow-up periods of 61 patients included in the study were recorded in the registration forms. Research data were evaluated using the SPSS 21.0 statistical program. Results: Thirty-six of the 61 cases included in the study were male, and the mean age at diagnosis was 5.7±4.8 years (newborn-18 years). When the patients were evaluated according to the preliminary diagnoses when they first came, it was seen that there were 31 cases with simple cysts, 10 cases with Multicystic Dysplastic Kidney Disease, 9 cases with Autosomal Recessive Polycystic Kidney Disease, 9 cases with Autosomal Dominant Polycystic Kidney Disease, and one case with Medullary Sponge Kidney and Tuberous sclerosis. 9 cases accompanied by renal agenesis, 8 cases with recurrent urinary tract infection, 4 cases with kidney stones, 4 cases with vesicoureteral reflux, 3 cases accompanied by hypertension, 2 cases followed up with chronic renal failure, Horseshoe kidney anomaly, congenital renal hyperplasia, nephritic syndrome cases were observed. 19 patients with cystic kidney disease in their families were detected, 6 of 31 patients followed up with simple cysts had simple kidney cysts in their families. There were 14 cases with renal failure in the family. The most common family history of renal failure was in the diagnosis of ODPKD. When the presentation complaints at the time of diagnosis 78 were examined, it was seen that 29 patients had abdominal pain, 4 patients had a family history of cysts, and 3 patients had urinary incontinence. Considering the genetic results of the cases, which were performed by next-generation sequencing, pathogenic genetic mutations were detected in 23 cases. The most frequently detected mutation was PKD1 gene mutation in 15 cases, other mutations were TSC2, PEX6, KLF11, TTC21beta, INS, PKD2, ALG8, LRP5 gene mutations in one case each. Genetic mutations (PKD1 gene mutations in 2 cases, PEX6, KLF11, INS, PKD2, ALG8, LRP5 gene mutations in one case each) were found in 25.8% of cases followed up with a diagnosis of simple cyst. It was concluded that one-fourth of our patients with a preliminary diagnosis of simple cysts actually have ODPKD, and those with PEX6, KLF11, INS, PKD-2, ALG8 and LRP5 mutations should be followed closely in terms of genetic diseases. As a result, early and accurate diagnosis is very important because some of the cystic diseases seen in childhood are important causes of morbidity and mortality in childhood and some in adulthood. In this case series, where we see that clinical and radiological imaging findings may not always be sufficient for the correct diagnosis, it has been concluded that close follow-up with clinical and renal ultrasound and genetic mutation analyzes in renal cysts in children are important. There is a need for prospective multicenter studies with sufficient sample size, including ultrasound monitoring and genetics in cystic diseases in children and adults, and in which healthy and sick family members will also be studied simultaneously