AUTHOR=Litvinchuk Tetiana , Tao Yunxia , Singh Ruchi , Vasylyeva Tetyana L. 

TITLE=A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study

JOURNAL=Frontiers in Pediatrics

VOLUME=3

YEAR=2015

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2015.00082

DOI=10.3389/fped.2015.00082

ISSN=2296-2360

ABSTRACT=<sec id="ST1"><title>Background</title><p>Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [<italic>PKD1</italic> (85–90% of cases), on ch 16p13.3] and polycystin-2 [<italic>PKD2</italic> (10–15% of cases), on ch 4q13-23] and <italic>PKD3</italic> gene (gene unmapped). It is also associated with <italic>TSC2/PKD1</italic> contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases.</p></sec><sec id="ST2"><title>Case presentation</title><p>A 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, <italic>PKD1</italic> and <italic>PKD2</italic>, genetic testing was ordered. Results showed, <italic>PKD2</italic> 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.</p></sec><sec id="ST3"><title>Conclusion</title><p>A smaller number of patients have a defect in the <italic>PKD2</italic> 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.</p></sec>