hrp0082p1-d3-46 | Bone (1) | ESPE2014

Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait?

Molin Arnaud , Baudouin Roseline , Coudray Nadia , Figueres Marie-Lucille , Jones Glennville , Kottler Marie-Laure

Background: Homozygous or compound heterozygous mutations of gene CYP24A1 have recently been reported to cause idiopathic infantile hypercalcemia due to increased intestinal absorption of calcium. However, an autosomal dominant transmission with partial penetrance of the trait was also suggested.Objective and hypotheses: Evaluation of the frequency of CYP24A1 mutation and evaluation of the impact of heterozygous mutation on calcium meta...

hrp0086rfc1.8 | Adrenals | ESPE2016

Adrenal Dysfunction in HIV-Exposed Uninfected Infants Receiving Ritonavir-Boosted Lopinavir, an HIV Protease Inhibitor, for the Prevention of Breastfeeding HIV Transmission. An ANRS 12174 Substudy

Polak Michel , Wudy Stefan , Meda Nicolas , Hartmann Michaela , Kankasa Chipepo , Tumwine James , Laborde Kathleen , Hofmeyr Justus , Vallo Roselyne , Nagot Nicolas , Tylleskar Thorkild , Van de Perre Philippe , Blanche Stephane

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...