ABSTRACT
Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. We present the first case of a girl who was born with CAH and an orofacial cleft. She was treated with prenatal DXM to prevent virilization. Oral clefts have to be considered as a potential side effect of prenatal DXM treatment.
Subject(s)
Adrenal Hyperplasia, Congenital/drug therapy , Cleft Lip/drug therapy , Cleft Palate/drug therapy , Dexamethasone/therapeutic use , Prenatal Care/methods , Virilism/drug therapy , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Cleft Lip/complications , Cleft Lip/diagnosis , Cleft Palate/complications , Cleft Palate/diagnosis , Female , Humans , Pregnancy , Prenatal Diagnosis , Virilism/complications , Virilism/diagnosisABSTRACT
To determine the efficacy and safety of intraperitoneal administration of darbepoetin in children with renal anemia on peritoneal dialysis, we conducted a single-arm, retrospective, two-centre study in which children were treated with intraperitoneal darbepoetin at the end of nightly intermittent peritoneal dialysis. Controls were those children treated with intraperitoneal erythropoietin six months before conversion to darbepoetin. Children were converted with the conversion factor 200 units erythropoietin=1 microg darbepoetin. Children who started with darbepoetin, started with 0.45 microg/kg/week. Nineteen children entered the study. The mean age was 6.8 years. Eight children were converted from 201 U/kg/week intraperitoneal erythropoietin to 1.0 microg/kg/week intraperitoneal darbepoetin. They were treated for a median period of 31.5 months. Median darbepoetin dose for an adequate erythropoesis over this period was 0.79 microg/kg/week. All 19 children were treated with darbepoetin for a median period of 13.4 months. The median dose for an adequate erythropoesis over this period was 0.63 microg/kg/week. The peritonitis incidence during this study was once every 25.1 months. Three children developed hypertension; one child developed headache. These complications developed after a rapid increase of hemoglobin concentration. Intraperitoneal administration of darbepoetin is effective and safe for children on peritoneal dialysis.
