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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.
Hypophosphatemic nephrolithiasis and osteoporosis (NPHLOP1) is a rare autosomal dominant renal tubular disorder caused by SLC34A1 mutations, leading to phosphate wasting, hypercalciuria, and recurrent nephrolithiasis. Recently, SLC34A1 variants have also been linked to cystic kidney phenotypes, mimicking autosomal dominant polycystic kidney disease (ADPKD). We present a familial case of a novel SLC34A1 mutation in a dialysis patient initially suspected of ADPKD, highlighting the importance of genetic testing in atypical cystic kidney disease.
A 57-year-old male with end-stage kidney disease (RRT since 2003) and multiple bilateral renal cysts and nephrocalcinosis on abdominal CT was evaluated for persistent hypophosphatemia. His history included multiple nephrolithiasis, genu varum, and subtotal parathyroidectomy for secondary hyperparathyroidism. Family history revealed a mother and sister with kidney failure of unclear etiology. Next-generation sequencing (NGS) of 18 phosphate-metabolism genes was performed using a targeted panel.
Molecular analysis identified a heterozygous splice-site variant SLC34A1 c.109+1G>A (chr5:177385851 G>A), classified as “likely pathogenic” (ClinVar ID 1479198). The variant affects the type IIa sodium-phosphate cotransporter, resulting in renal phosphate wasting and a phenotype of dominant hypophosphatemic nephrolithiasis and osteoporosis. Notably, the presence of multiple cysts suggested a phenotypic overlap with ADPKD. Ten offspring are undergoing genetic testing for early identification and preventive management.
This case broadens the phenotypic spectrum of SLC34A1-related disease, showing that phosphate-wasting tubulopathy may coexist with or mimic polycystic kidney disease. Recognition of SLC34A1 mutations as a potential differential diagnosis for ADPKD phenocopies is crucial for accurate counseling, family screening, and personalized therapeutic strategies.
