Back
For best output, select "Paper Size" as "A4" and "Margin" as "0" or "None".
To save or print to PDF, please select Print Destination > Save as PDF, enable Background Graphics under "More Settings", then click "Save".
During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
In recent years, in addition to PKD1 and PKD2, several other genes have been reported as causative for autosomal dominant polycystic kidney disease (ADPKD), including ALG5, ALG9, DNAJB11, GANAB, IFT140, NEK8, ALG6, ALG8, and PKHD1.
We report a rare case of polycystic kidney disease in which a pathogenic variant in the ALG6 gene was identified.
The patient was a 60-year-old man with a history of hypertension and hyperuricemia. Abdominal ultrasonography during a routine health checkup revealed multiple kidney cysts, leading to referral to our hospital. Laboratory tests showed a serum creatinine of 1.26 mg/dL and an estimated GFR of 46.3 mL/min/1.73 m², indicating mild kidney impairment. No hematuria or proteinuria was observed, and there was no elevation of markers suggesting tubulointerstitial damage.
Magnetic resonance imaging (MRI) revealed no kidney enlargement, a few small hepatic cysts, and multiple kidney cysts predominantly located along the kidney margins on both sides. There was no apparent family history, and atypical PKD was suspected; therefore, genetic analysis was performed.
A targeted panel sequencing of 530 genes, including ADPKD-associated genes, identified a novel heterozygous nonsense variant in ALG6. This variant was extremely rare, with an allele frequency of 0.0001 in the Japanese allele frequency database (ToMMo), and was classified as pathogenic according to ACMG guidelines.
To date, only a single publication has proposed ALG6 as a potential causative gene for ADPKD, and our case represents the first report from Japan. The imaging findings in our patient were remarkably similar to those previously described.
During two years of follow-up, no further deterioration of kidney function or increase in kidney volume was observed.
This is the first report to describe the longitudinal clinical course of a PKD patient harboring an ALG6 pathogenic variant and contributes to a better understanding of the clinical characteristics of such cases.
