hrp0095p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Nephrolithiasis and hypoparathyroidism with normocalcemia – detecting a new mutation solves the mystery

Reichardt Susen , Mayer Brigitte , Quitter Friederike , Huebner Angela

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...