%A Litvinchuk,Tetiana %A Tao,Yunxia %A Singh,Ruchi %A Vasylyeva,Tetyana L. %D 2015 %J Frontiers in Pediatrics %C %F %G English %K ADPKD,PKD3 gene,polycystin 2,kidney disease,Genetic variant %Q %R 10.3389/fped.2015.00082 %W %L %M %P %7 %8 2015-October-09 %9 Clinical Case Study %+ Tetyana L. Vasylyeva,Department of Pediatrics, Texas Tech Health Sciences Center,USA,tetyana.vasylyeva@ttuhsc.edu %# %! A case study on new familiar genetic variant of ADPKD %* %< %T A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study %U https://www.frontiersin.org/articles/10.3389/fped.2015.00082 %V 3 %0 JOURNAL ARTICLE %@ 2296-2360 %X BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85–90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10–15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases.Case presentationA 17-year-old boy was followed up for bilateral cystic kidney disease, hypertension, and obesity since he was 13 years old. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. A renal ultrasonogram also demonstrated a multiple bilateral cysts. Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602–1604; codon position: 512–513; mRNA reading frame maintained. The same mutation was later identified in his father.ConclusionA smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are no known published cases on this familiar genetic variant of ADPKD-2 cystic kidney disease. In this case, the disease is present unusually early in life.