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Reactions to a diagnosis of autosomal dominant tubule-interstitial kidney disease (ADTKD) due to UMOD and MUC1 mutations in asymptomatic patients are unknown. Researchers in the United States and Czechia developed a cross-sectional survey regarding quality of life and genetic testing for individuals who had undergone genetic testing from families with known ADTKD.Of 622 individuals provided the survey, 286 completed it. Of those, 21% (n=61) were genetically unaffected, 12% (n=3) had stage 1, 2 chronic kidney disease (CKD), 18% (n=51) had stage 3 CKD, 14% (n=41) had stage 4 pre-dialysis CKD, 17% (n=50) were receiving dialysis, and 16% (n=47) were s/p kidney transplantation.Fifty-five respondents thought they had normal kidney function at the time of testing and were found to have ADTKD; 93% of those individuals (n=51) were happy the testing was performed, 5% (n=3) were neutral, and 2% (n=1) was neutral/unhappy. Of the affected individuals, 23% (n=183) said that ADTKD has a &ldquo;substantial effect and I think about it daily.&rdquo; Twenty-six percent (n=47) think about ADTKD weekly, 26% (n=48) think about it monthly, and 26% (n=48) think about it less than monthly,Mean PROMIS&reg; (Patient-Reported Outcomes Measurement Information System) anxiety scores were similar between affected and unaffected individuals and with the general population. Forty-one percent of affected individuals experienced depression compared with 23% of unaffected individuals (P=0.01).&ldquo;Genetic testing of presymptomatic patients for ADTKD is reasonable when requested,&rdquo; the researchers concluded. &ldquo;This study provides reassurance regarding the impact on quality of life of the increased use of genetic testing to diagnosis kidney disease. ADTKD has a significant impact on quality of life, with depression, not anxiety, being more prevalent in affected individuals.&rdquo;<a href="https://www.asn-online.org/education/kidneyweek/2019/program-abstract.aspx?controlId=3231322">Read more here</a>Source: Bleyer A, Kidd KO, Vyletal P, Zivna M, Kmoch S. Quality of life in patients with autosomal dominant tubulointerstitial kidney disease. Abstract of a poster presented at the American Society of Nephrology Kidney Week 2019 (Abstract FR-PO0807), November 8, 2019, Washington, DC.

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Reactions to a diagnosis of autosomal dominant tubule-interstitial kidney disease (ADTKD) due to UMOD and MUC1 mutations in asymptomatic patients are unknown. Researchers in ...

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