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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.
PKHD1 is known as a causative gene of autosomal recessive polycystic kidney disease. Recently, it has been suggested that monoallelic PKHD1 variants may cause autosomal dominant polycystic kidney disease. However, there are few reports that have investigated the clinical characteristics and genetic background of monoallelic PKHD1 variants in adult polycystic kidney disease (PKD) patients.
We performed comprehensive genetic analysis in 175 adult patients with sporadic PKD, defined as ≥5 bilateral renal cysts and no parental PKD history. Targeted next-generation sequencing was performed using panels of 69–530 genes associated with cystic or chronic kidney disease.
Pathogenic variants were found in 78 patients (44.6%): PKD1 (n = 40), PKD2 (n = 19), and monoallelic IFT140 (n = 7). Eleven others had variants in genes such as HNF1B, GANAB, and OFD1. Among the 97 patients without identifiable pathogenic variants in known ADPKD genes, four carried heterozygous loss-of-function variants in PKHD1 (three nonsense and one splicing). Three of these also harbored heterozygous variants in other cystic kidney disease–related genes. Their clinical profiles at the time of genetic analysis were as follows:
-Patient 1: 35-year-old male; PKHD1:p.R1040X, together with an NPHP3 missense variant of uncertain significance (VUS); total kidney volume (TKV), 703 mL; end-stage kidney disease. Family testing revealed that the PKHD1 variant was inherited from his unaffected mother, whereas the NPHP3 variant was not detected in her but was present only in his unaffected brother.
-Patient 2: 43-year-old female; PKHD1 splice-site variant, together with a likely pathogenic indel in TCTN1; TKV, 334 mL; estimated glomerular filtration rate (eGFR), 60.5 mL/min/1.73 m².
-Patient 3: 59-year-old male; PKHD1:p.W4X; TKV, 1193 mL; eGFR, 11.3 mL/min/1.73 m².
-Patient 4: 28-year-old female; PKHD1:p.W4X, together with a PKD1 missense VUS; TKV, 285 mL; eGFR, 120.2 mL/min/1.73 m².
Monoallelic PKHD1 loss-of-function variants may contribute to adult-onset cystic kidney disease, particularly when coexisting with heterozygous variants in other cystic kidney disease-related genes. These findings suggest a potential modifier effect or a digenic mechanism rather than a simple monogenic inheritance pattern.
