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Kidney stones and arthritis caused by a renal phosphate wasting gene

Osteoarthritis | Rickets | Renal Stones | Hypophosphatemia

We are looking at individuals with a rare gene problem that causes their kidneys to pee out excessive phosphate. The gene is called SLC34A3 and it controls how the kidney handles phosphate, an important component of bone. This can lead to bone problems like early arthritis, and this can lead to kidney problems like kidney stones. We want to understand more about this condition and how it affects people.

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Participation Requirements

  • Sex:

    Any

  • Eligible Ages:

    0 and up

Participation Criteria

Inclusion Criteria:
Anyone who identifies as Hutterite can participate in the study. The first step will be a cheek swab to check if you have the gene that can cause HHRH.

After the cheek swab, we will invite people with the gene that causes HHRH and some people who don't to participate in the next steps (blood work, urine studies, kidney ultrasound, and some select xrays).
Exclusion Criteria:
If you don't have a relative with the SLC34A3 gene variant

Study Location

University of Alberta
University of Alberta
Edmonton, Alberta
Canada

Contact Study Team

Study Sponsored By
University of Alberta
Participants Required
More Information
Study ID: Pro00134150