New liver and kidney disease identified
In the study, experts reviewed clinical symptoms, took liver biopsies and genetic sequencing from scores of patients, where a total of 15 patients from eight families were identified as having this new disease.

Urine samples from these patients were used to grow cells in a laboratory and then investigated to determine the precise defect causing TULP3-related ciliopathy.

Over half the patients in the study had a liver or kidney transplant as their condition had deteriorated significantly. In these patients the original cause for their organ failure was unknown until the study.

Source: https://www.sciencedirect.com/science/article/pii/S0002929722001112?via=ihub
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