Denys–Drash syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Denys–Drash syndrome | |||
| synonyms = [[DDS]] | |||
| field = [[Nephrology]], [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Kidney failure]], [[Ambiguous genitalia]], [[Wilms' tumor]] | |||
| complications = [[End-stage renal disease]], [[Hypertension]], [[Gonadal dysgenesis]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[WT1 gene]] | |||
| risks = [[Family history]] of the condition | |||
| diagnosis = [[Genetic testing]], [[Ultrasound]], [[Biopsy]] | |||
| differential = [[Frasier syndrome]], [[WAGR syndrome]] | |||
| treatment = [[Kidney transplant]], [[Hormone replacement therapy]], [[Surgery]] | |||
| medication = [[Antihypertensives]], [[Immunosuppressants]] | |||
| prognosis = [[Variable]], depends on [[early diagnosis]] and [[treatment]] | |||
| frequency = Rare | |||
}} | |||
'''Denys–Drash syndrome''' (DDS) is a rare genetic disorder characterized by a combination of kidney disease, male pseudohermaphroditism, and an increased risk of developing [[Wilms' tumor]]. The syndrome is named after Dr. Paul Denys and Dr. Allen Drash, who first described the condition. | |||
== Clinical Features == | == Clinical Features == | ||
Denys–Drash syndrome typically presents in early childhood. The main clinical features include: | |||
* [[Nephropathy]]: Progressive kidney disease, often leading to [[renal failure]]. | * [[Nephropathy]]: Progressive kidney disease, often leading to [[renal failure]]. | ||
* [[Male pseudohermaphroditism]]: Ambiguous genitalia in genetic males (46,XY). | * [[Male pseudohermaphroditism]]: Ambiguous genitalia in genetic males (46,XY). | ||
* Increased risk of [[Wilms' tumor]]: A type of kidney cancer that primarily affects children. | * Increased risk of [[Wilms' tumor]]: A type of kidney cancer that primarily affects children. | ||
== Genetics == | == Genetics == | ||
Denys–Drash syndrome is caused by mutations in the [[WT1 gene]] located on chromosome 11p13. The WT1 gene is crucial for the normal development of the kidneys and gonads. Mutations in this gene disrupt its function, leading to the clinical manifestations of DDS. | |||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of | The diagnosis of Denys–Drash syndrome is based on clinical findings, genetic testing, and histological examination of kidney tissue. Key diagnostic criteria include: | ||
* Presence of nephropathy with diffuse mesangial sclerosis. | * Presence of nephropathy with diffuse mesangial sclerosis. | ||
* Ambiguous genitalia in genetic males. | * Ambiguous genitalia in genetic males. | ||
* Identification of a WT1 mutation. | * Identification of a WT1 mutation. | ||
== Treatment == | == Treatment == | ||
Management of | Management of Denys–Drash syndrome involves a multidisciplinary approach, including: | ||
* Regular monitoring and management of kidney function. | * Regular monitoring and management of kidney function. | ||
* Surgical intervention for ambiguous genitalia. | * Surgical intervention for ambiguous genitalia. | ||
* Surveillance for the development of Wilms' tumor, including regular abdominal ultrasounds. | * Surveillance for the development of Wilms' tumor, including regular abdominal ultrasounds. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with | The prognosis for individuals with Denys–Drash syndrome varies. Early diagnosis and management of kidney disease and Wilms' tumor are crucial for improving outcomes. However, many patients progress to end-stage renal disease and require [[dialysis]] or [[kidney transplantation]]. | ||
== Related Pages == | == Related Pages == | ||
* [[Wilms' tumor]] | * [[Wilms' tumor]] | ||
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* [[Dialysis]] | * [[Dialysis]] | ||
* [[Kidney transplantation]] | * [[Kidney transplantation]] | ||
== See Also == | == See Also == | ||
* [[Frasier syndrome]] | * [[Frasier syndrome]] | ||
* [[Beckwith-Wiedemann syndrome]] | * [[Beckwith-Wiedemann syndrome]] | ||
* [[Congenital nephrotic syndrome]] | * [[Congenital nephrotic syndrome]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category| | {{Commons category|Denys–Drash syndrome}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
| Line 52: | Line 57: | ||
[[Category:Pediatric cancers]] | [[Category:Pediatric cancers]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{hospital-stub}} | {{hospital-stub}} | ||
Latest revision as of 23:03, 3 April 2025
| Denys–Drash syndrome | |
|---|---|
| Synonyms | DDS |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Kidney failure, Ambiguous genitalia, Wilms' tumor |
| Complications | End-stage renal disease, Hypertension, Gonadal dysgenesis |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the WT1 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, Ultrasound, Biopsy |
| Differential diagnosis | Frasier syndrome, WAGR syndrome |
| Prevention | N/A |
| Treatment | Kidney transplant, Hormone replacement therapy, Surgery |
| Medication | Antihypertensives, Immunosuppressants |
| Prognosis | Variable, depends on early diagnosis and treatment |
| Frequency | Rare |
| Deaths | N/A |
Denys–Drash syndrome (DDS) is a rare genetic disorder characterized by a combination of kidney disease, male pseudohermaphroditism, and an increased risk of developing Wilms' tumor. The syndrome is named after Dr. Paul Denys and Dr. Allen Drash, who first described the condition.
Clinical Features[edit]
Denys–Drash syndrome typically presents in early childhood. The main clinical features include:
- Nephropathy: Progressive kidney disease, often leading to renal failure.
- Male pseudohermaphroditism: Ambiguous genitalia in genetic males (46,XY).
- Increased risk of Wilms' tumor: A type of kidney cancer that primarily affects children.
Genetics[edit]
Denys–Drash syndrome is caused by mutations in the WT1 gene located on chromosome 11p13. The WT1 gene is crucial for the normal development of the kidneys and gonads. Mutations in this gene disrupt its function, leading to the clinical manifestations of DDS.
Diagnosis[edit]
The diagnosis of Denys–Drash syndrome is based on clinical findings, genetic testing, and histological examination of kidney tissue. Key diagnostic criteria include:
- Presence of nephropathy with diffuse mesangial sclerosis.
- Ambiguous genitalia in genetic males.
- Identification of a WT1 mutation.
Treatment[edit]
Management of Denys–Drash syndrome involves a multidisciplinary approach, including:
- Regular monitoring and management of kidney function.
- Surgical intervention for ambiguous genitalia.
- Surveillance for the development of Wilms' tumor, including regular abdominal ultrasounds.
Prognosis[edit]
The prognosis for individuals with Denys–Drash syndrome varies. Early diagnosis and management of kidney disease and Wilms' tumor are crucial for improving outcomes. However, many patients progress to end-stage renal disease and require dialysis or kidney transplantation.
Related Pages[edit]
See Also[edit]
References[edit]
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External Links[edit]
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