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Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood.
Diagnosis. Treatment. References. External links. Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene. [1] [2] [3] It was first characterized in 1964. [4] Presentation. Both males and females can have Frasier syndrome but their presentations can be different.
Frasier syndrome. Suggest an update. Disease definition. A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. ORPHA:347. Classification level: Disorder. Prevalence: <1 / 1 000 000.
About Frasier syndrome. Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease: Population Estimate: Fewer than 1,000 people in the U.S. have this disease. Symptoms: May start to appear from Childhood to Adulthood. Cause: This disease is caused by a change in the genetic material ...
Resumen. INTRODUCCIÓN: El síndrome de Frasier es una enfermedad de herencia autosómica dominante con una prevalencia inferior a 1 caso por cada millón de recién nacidos vivos. Hasta la fecha se han descrito unos 150 casos.
21 de jul. de 2021 · Frasier syndrome is a rare disease that affects the kidneys and genitalia. Patients who have Frasier syndrome develop nephrotic syndrome (NS) featuring focal segmental glomerulosclerosis (FSGS) that is resistant to steroid treatment in early childhood.
Clinical Features of Frasier Syndrome. Frasier syndrome is an autosomal dominant disorder that is closely related to Denys-Drash syndrome and consists of intersex disorders and nephropathy (OMIM 136680).
