hrp0084p3-1077 | Hypo | ESPE2015

Clinical Presentation of a Patient with a Novel Homozygous Mutation in the TRPM6 Gene

Altincik Ayca , Schlingmann Karl Peter

Background: Herediter hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individulals present at early infancy with severe hypocalcemia and hypomagnesemia which leads to tetany and seizures.Objective and hypotheses: In this report, we want to present the clinical features, treatment regimen, follow-up of a patient with a novel h...

hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...