• Ayca Kocaaga, AtikelYesim ÖzdemirYÖ0000-0001-5304-3125Eskisehir City Hospital, Department of Pediatric Nephrology - Eskişehir, Turkey., Mehtap Sak, and Taner Karakaya.
• Eskisehir City Hospital, Department of Medical Genetics - Eskişehir, Turkey.
• Rev Assoc Med Bras (1992). 2023 Jan 1; 69 (11): e20230334e20230334.

ObjectiveAutosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms of autosomal recessive polycystic kidney disease.MethodsWe evaluated the children diagnosed with polycystic kidney disease between October 2020 and May 2022. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively.ResultsThere were 28 children (male/female: 11:17) evaluated in this study. Genetic analysis was performed in all patients (polycystin-1 variants in 13, polycystin-2 variants in 7, and no variants in 8 patients). A total of 18 variants in polycystin-1 and polycystin-2 were identified and 9 (50%) of them were not reported before. A total of eight novel variants were identified as definite pathogenic or likely pathogenic mutations. There was no variant detected in the PKDH1 gene.ConclusionOur results highlighted molecular features of Turkish children with polycystic kidney disease and demonstrated novel variations that can be utilized in clinical diagnosis and prognosis.

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