The Case | A pregnant female with refractory hypocalcemia

Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic

“…Prior diagnoses were confirmed in 32.2% (37/115) of patients. The new or changed diagnosis among patients led to a significant change in management in 39.7% (31/78) of patients, including avoidance of steroids and immunosuppression in 13 cases with a genetic form of glomerular disease, initiation of enzyme replacement therapy or chaperone therapy in 2 cases with Fabry disease, adjustment of treatment period with eculizumab in 1 case with atypical hemolytic uremic syndrome and 1 case with C3 glomerulopathy, initiation of tolvaptan in 5 cases with PKD with negative family history, avoidance of unnecessary parathyroid surgery in 1 case with familial hypocalciuric hypercalcemia, initiation of anti-FGF23 monoclonal antibody in 1 case with X-linked hypophosphatemic rickets, initiation of enzyme replacement therapy in 4 cases with hypophosphatasia, initiation of carnitine cocktail in 1 case with mitochondrial disorder, as well as personalized calcium and vitamin D management during pregnancy in 1 patient with autosomal dominant hypocalcemia 25 and 1 case with 24-hydroxylase deficiency.…”