Sindrome di Denys-Drash
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Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
Descrizione
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
Denys-Drash syndrome is characterised by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumour. Affected individuals may develop multiple tumours in one or both kidneys.
Although males with Denys-Drash 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 testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile).
Affected females usually have normal genitalia 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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
DDS
Drash syndrome
Nephropathy, Wilms tumour, and genital anomalies
Wilms tumour and pseudohermaphroditism
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Ulteriori letture e riferimenti
- Sindrome di Denys-Drash; 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.
- Dai YL, Fu JF, Hong F, Xu S, Shen Z. WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review. Acta Paediatr. 2011 Jul;100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. Epub 2011 Feb 14.
- Guaragna MS, Soardi FC, Assumpcao JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S. The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d.
- 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.
- Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y. Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. Ren Fail. 2011;33(9):910-4. doi: 10.3109/0886022X.2011.605528. Epub 2011 Aug 18.
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