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논문분류	춘계학술대회 초록집
제목	Genetic counseling for families with autosomal dominant polycystic kidney disease (ADPKD) related end-stage renal disease (ESRD) : a case report
저자	Sang Hyuk Kwak
출판정보	2023; 2023(1):
키워드
초록	Case A fifty-year-old male patient was transferred to our hemodialysis clinic near his residence. In the nephrology department of a university hospital, he was diagnosed with chronic kidney failure caused by ADPKD at the age of forty-seven. Abdominal CT revealed multiple cystic lesions in both kidneys. According to the patient's family history, he was the fifth of eight siblings, and two of his male siblings had already been diagnosed with chronic renal failure and were getting maintenance hemodialysis. The patient had two adult sons in theirthirtiesand twenties, who were unmarried. The patient feared that his two sons will likewise have end-stage renal failure beyond age of forty.After researching the patient's family history and establishing a family tree, the patient was referred to the Genetic Counseling Clinic at Konyang University Hospital for genetic testing. Through the Genetic Counseling Clinic's Diagnostic Exome Sequencing Test, an unique likely pathogenic variation(LPV) was identified in the PKD1 gene (c.4221del; p.Phe1408SerfsTer24). The patient was counseled that autosomal dominant inheritance of ADPKD with fifty percent recurrence having ADPKDin high-risk family members, thus genetic testing is also necessary for the patient's children, other siblings, and their progeny. Conclusion Bythe age of sixty,approximatelyhalf of patients with ADPKD progressed to end-stage chronic kidney failure. Thus screening, diagnosis, and intervention may be delayed. It is essential for individuals with a family history of ADPKD to undergocomprehensive genetic counseling andgenetic testing at a young age, preferably before marriage, and to receive early genetic counseling to prevent transmission of the disease to future generations.
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