Frasier syndrome
Última actualización 27 Oct 2023
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Frasier syndrome is a condition that affects the kidneys and genitalia.
Descripción
Frasier syndrome is a condition that affects the kidneys and genitalia.
Frasier syndrome is characterised 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. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence.
Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female or the genitalia appear female-typical. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life.
Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
FS
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Lecturas adicionales y referencias
- Frasier syndrome; MedlinePlus, National Library of Medicine.
- Andrade JG, Guaragna MS, Soardi FC, Guerra-Junior G, Mello MP, Maciel-Guerra AT. Clinical and genetic findings of five patients with WT1-related disorders. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1236-43. doi: 10.1590/s0004-27302008000800006.
- Fujita S, Sugimoto K, Miyazawa T, Yanagida H, Tabata N, Okada M, Takemura T. A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. Clin Nephrol. 2010 Jun;73(6):487-91. doi: 10.5414/cnp73487.
- Niaudet P, Gubler MC. WT1 and glomerular diseases. Pediatr Nephrol. 2006 Nov;21(11):1653-60. doi: 10.1007/s00467-006-0208-1. Epub 2006 Aug 23.
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