Disease Information for Drash's syndrome

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Protein (Albumin)
Associated Diseases & Rule outs
Associated Disease & Complications
Ascites in Children
Childhood malignancy
Congenital urinary tract malformations
Cryptorchidism
Drash (triad) syndrome
Glomerulonephritis/Glomerulitis
Nephrosis/secondary disease
Nephrotic syndrome
Proteinuria
Pseudohermaphroditism, male
Renal Failure Chronic
Wilms tumor/nephroblastoma
Proteinuria in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Urogenital ridge/embryogenesis failure
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/INCIDENCE/Esoteric disease (example)
Definition

Spontaneous mutation sporatic cases; WILMS TUMOR AND PSEUDOHERMAPHRODITISM;DRASH SYNDROME;DENYS-DRASH SYNDROME; NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES; DRASH TRIAD; (Gene locus 11p13); a result of mutation in the Wilms tumor suppressor gene (WT1); The usual renal lesion is diffuse mesangial sclerosis; partial androgen receptor deficiency and mixed gonadal dysgenesis; The nephropathy of the Drash triad shows severe proteinuria, then nephrotic syndrome commonly progressing to end-stage renal failure before age 3; focal or diffuse mesangial sclerosis; deposition of fibrillary material in the cytoplasm leads to mesangial cell expansion; Drash patients who develop Wilms tumor usually have bilateral tumors and present at a mean age of about 18 months; the genital abnormality is most often male pseudohermaphroditism with children having either ambiguous external genitalia or a normal female phenotype with an XY karyotype; hiatus hernia may be related

(OMIM/NIH 2005)-------------------------------------------------------

Drash Syndrome

Denys-Drash Syndrome

Nephropathy-Pseudohermaphroditism-Wilms Tumor

Pseudohermaphroditism-Nephron Disorder-Wilm"s Tumor

Wilms Tumor and Pseudohermaphroditism

Wilms Tumor-Pseudohermaphroditism-Nephropathy

Wilms Tumor-Pseuodohermaphroditism-Glomerulopathy

Disorder Subdivisions

General Discussion

Drash Syndrome is a very rare disorder that typically appears for no apparent reason (sporadically). In rare cases, it may be inherited as an autosomal dominant genetic trait. This disorder usually appears early in life. In its complete form, it is characterized by the combination of abnormal kidney function, genital abnormalities (pseudohermaphroditism), and a cancerous tumor of the kidney called a Wilms" tumor. Some affected individuals may have the incomplete form of Drash Syndrome, which consists of abnormal kidney function with either genital abnormalities (pseudohermaphroditism) or Wilms" tumor. This disorder predominantly affects males but a few female cases have been reported.[NORD 2005]

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External Links Related to Drash's syndrome
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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