Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene.It was first characterized in 1964. Presentation
Both males and females can have Frasier syndrome but their presentations can be different. Affected females usually have normal genitalia and gonads and have only the features of impaired renal function, which may not present until early childhood or even adolescence. Because females do not have all the features of the condition (e.g. gonadal dysgenesis), females are usually given the diagnosis of isolated nephrotic syndrome Medline ref. Frasier syndrome in some infants may therefore go unrecognized until the affected child presents with signs of renal impairment and further testing is undertaken to evaluate the cause. In infants with XY genotype it causes an intersex condition as a result of gonadal dysgenesis. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia may not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads.Source These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Renal features of the condition include progressive glomerulonephropathy (focal segmental glomerulosclerosis). Patients are also at increased risk of genito-urinary tumors (usually gonadoblastoma).The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different; whilst Denys-Drash syndrome is associated with Wilms tumour, Frasier syndrome is associated with gonadoblastoma.
Beractant, also known by the trade name of Survanta, is a modified bovine pulmonary surfactant containing bovine lung extract (phospholipids, neutral lipids,
fatty acids, and bovine surfactant proteins), to which synthetic DPPC, tripalmitin and palmitic acid are added. The composition provides 25 mg/mL phospholipids, 0.5 to 1.75 mg/mL triglycerides, 1.4 to 3.5 mg/mL free fatty acids, and <1.0 mg/mL total surfactant proteins. As an intratracheal suspension, it can be used for the prevention and treatment of neonatal respiratory distress syndrome. Survanta is manufactured by Abbvie. Generic form
Beraksurf is generic form of Survanta (Beractant) which is manufacturing by Tekzima. References
External links
"Beractant". Drug Information Portal. U.S. National Library of Medicine.