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Wcn26-5883 Between Stones and Cysts: a Hidden Slc34a1 Mutation Mimicking Autosomal Dominant Polycystic Kidney Disease

Year: 2026

Type: article

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.

Source: Kidney International Reports

DOI: 10.1016/j.ekir.2026.105137

Authors: Daiana Garcia, Jimena Camus, Vanesa Moya, Lucia Zarate, Viviana Citro

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,800

OpenAlex ID: W7140291121

FWCI:

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