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논문분류	춘계학술대회 초록집
제목	Unilateral polycystic kidney with PKHD1 gene mutation
저자	Soon-Kil Kwon
출판정보	2024; 2024(1):
키워드
초록	A 19-year-old female visited the outpatient clinic to follow up on kidney imaging. She had been diagnosed with incidental left hydronephrosis which was found at fetal ultrasonography and followed yearly until 6 years old, and she had no medical problems including urinary tract infections. There was no family history of kidney disease including cystic disease and her parents’ kidney sonographic findings were normal. Her physical examination findings, blood and urine tests were all normal, and The sonographic finding when she was 2 years old showed only a 0.6 cm sized simple cyst in the right kidney and severe hydronephrosis of the left kidney, however, dynamic abdominal and pelvic CT performed at 19-year-old showed innumerable cysts of the right kidney, and residual mild dilatation of left renal pelvocalyx which was thought the sequelae of previous severe hydronephrosis. CT showed that the left kidney morphology was normal except for the previously diagnosed mild calyceal dilatation, but a polycystic change was found throughout the total right kidney (Fig. 1). A next-generation sequencing (NGS) for polycystic kidney disease confirmed a heterozygous mutation of c.7769T>G, p.(Met2590Arg) in the PKHD1 gene which was a variant of unknown clinical significance (VUS). PKD1, PKD2, and other PCKD-related gene tests were negative (Table 1). In this case, the PKHD1 mutation was confirmed through NGS analysis in an incidentally found unilateral polycystic kidney. Although the unilateral polycystic kidney is not clinically significant, it is necessary to confirm that it is one of the various heterozygotes of the PKHD1 gene.
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