Searchable abstracts of presentations at key conferences in endocrinology

ea0059p052 | Bone and calcium | SFEBES2018

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

Stevenson Mark , Pagnamenta Alistair T , Mack Heather G , Savige Judith A , Lines Kate E , Taylor Jenny C , McCredie David A , Thakker Rajesh V

Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are renal tubular disorders affecting reabsorption of sodium, potassium and chloride. Common clinical features include muscle cramps and weakness, hypokalaemia, hypochloraemic metabolic alkalosis and elevated plasma aldosterone concentrations. Urinary calcium excretion and plasma magnesium concentrations may be differentiating features, such that hypomagnesaemia and hypocalciuria are typical of GS, and hypercalciur...