Physicians should be aware of the manifestations of medullary sponge kidney and nephrocalcinosis in patients with Beckwith–Wiedemann syndrome. In addition to nephrocalcinosis, renal cysts, recurrent pain associated with infundibular stenoses, nephroblastomatosis, and Wilms tumor have also been reported.[3] As shown in our case presentation, patients with medullary sponge kidney usually form cal...

A 10 month old girl presented with a history of constipation from early life. She was found to be hypercalcaemic with hypercalciuria and nephrocalcinosis. Her mild motor delay and hypotonia were thought to be linked to chronic hypercalcaemia, but when these features failed to improve despite normocalcaemia on a low calcium diet the possibility of neuromuscular disease was explored in more detai...

There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not always successful. Thiazide diuretics, which reduce urinary calcium excretion, have not been used in these children, due to concerns that (i) they ...