Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Sashi MariathasanKatrina A AndrewsEdward ThompsonBenjamin G ChallisSarah WilcoxHeather PierceJulia HaleSarah SpidenGavin FullerHelen L SimpsonBrian FishPiyush JaniIan SeethoRuth ArmstrongLouise IzattMamta JoshiAnand VelusamySoo-Mi ParkRuth T Casey

Published in: Clinical endocrinology (2020)

Family history was the strongest predictor of hereditary PHPTH in this cohort. This study has highlighted the importance of re-evaluating VUS's in order to inform patient management and enable appropriate genetic counselling. Finally, this study has demonstrated the need to consider genetic testing for PHPTH in patients of any age, particularly those with additional risk factors.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
genome wide
hepatitis c virus