Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p90 | (1) | ICCBH2013

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia

Skalova Sylva , Kutilek Stepan , Cerna Lucie , Bayer Milan , Schlingmann Karl-Peter , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...

ba0002p198 | (1) | ICCBH2013

Severe hypercalcemia in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

Olivieri Francesca , Piona Claudia , Brugnara Milena , Morandi Grazia , Maines Evelina , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...

ba0004p84 | (1) | ICCBH2015

Different causes of infantile hypercalcemia

Kutilek Stepan , Plasilova Ivana , Gut Josef , Konrad Martin , Schlingman Karl P , Machata-Hanulikova Kristyna , Teterova-Cerna Hana

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...