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Journal of Medical Genetics Jun 1994
Review
Topics: Abnormalities, Multiple; Diagnosis, Differential; Disorders of Sex Development; Female; Genes, Wilms Tumor; Humans; Male; Mosaicism; Nephrosclerosis; Point Mutation; Syndrome; Wilms Tumor
PubMed: 8071974
DOI: 10.1136/jmg.31.6.471 -
Nihon Rinsho. Japanese Journal of... Sep 2006
Review
Topics: Denys-Drash Syndrome; Diagnosis, Differential; Disorders of Sex Development; Exons; Female; Genes, Wilms Tumor; Humans; Male; Point Mutation; Prognosis; WT1 Proteins; Wilms Tumor
PubMed: 17022587
DOI: No ID Found -
Nihon Rinsho. Japanese Journal of... Jun 2006
Review
Topics: Alleles; Animals; Denys-Drash Syndrome; Diagnosis, Differential; Humans; Point Mutation; Prognosis; WT1 Proteins
PubMed: 16817450
DOI: No ID Found -
Medicina (Kaunas, Lithuania) 2005Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive...
Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome.
Topics: Denys-Drash Syndrome; Exons; Female; Genes, Wilms Tumor; Humans; Infant; Mutation, Missense; WT1 Proteins
PubMed: 15758579
DOI: No ID Found -
The Tohoku Journal of Experimental... Sep 2020Denys-Drash syndrome is characterized by progressive nephropathy, gonadal dysgenesis, and Wilms tumor caused by a WT1 gene mutation. Infants with Denys-Drash syndrome...
Denys-Drash syndrome is characterized by progressive nephropathy, gonadal dysgenesis, and Wilms tumor caused by a WT1 gene mutation. Infants with Denys-Drash syndrome frequently experience severe hypertension, but detailed clinical manifestations have yet to be clarified. Cases of infantile-onset Denys-Drash syndrome with severe hypertension at our hospital were retrospectively analyzed and the pathogenesis of hypertension was investigated. Six infants who received the diagnosis of Denys-Drash syndrome at the median age of 10 days (range: 2-182 days) were enrolled. Five infants had the complication of severe hypertension within a few days of diagnosis. All the patients showed rapid progression to end-stage renal disease and urgently required dialysis due to anuria/oliguria and hypervolemia with a median duration of 7.5 days (range: 0-17 days) on the day after diagnosis. Even under dialysis, all the patients continued to need antihypertensive treatment. Five patients underwent a preventive nephrectomy for Wilms tumor, and one patient underwent a nephrectomy due to progression to Wilms tumor. Two patients developed hypotension after a nephrectomy. The main causes of hypertension were hypervolemia in the predialysis stage, renin-associated hypertension in the dialysis stage, and multiple factors, including increased plasma catecholamine-associated hypertension in the postnephrectomy dialysis stage. At last the follow-up after bilateral nephrectomy, four of the five patients required antihypertensive treatment. Not all the patients showed target organ complications caused by hypertension. Severe hypertension is a common complication of infantile-onset Denys-Drash syndrome. The possibility of hypotension after nephrectomy should be considered in patients with Denys-Drash syndrome.
Topics: Age of Onset; Denys-Drash Syndrome; Humans; Hypertension; Hypotension; Infant; Infant, Newborn; Nephrectomy; Organ Specificity
PubMed: 32863338
DOI: 10.1620/tjem.252.45 -
Ryoikibetsu Shokogun Shirizu 1997
Review
Topics: Disorders of Sex Development; Humans; Kidney Neoplasms; Male; Syndrome; Wilms Tumor
PubMed: 9278002
DOI: No ID Found -
Journal of the Formosan Medical... Jan 2004We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic syndrome, and early renal failure. The patient...
We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic syndrome, and early renal failure. The patient received dialysis therapy from 15 days of age until his death at the age of 6 months. DNA analysis was performed on the WT1 gene, and a missense point mutation was detected in exon 8 (R366H). After prenatal confirmation of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death.
Topics: Denys-Drash Syndrome; Exons; Fatal Outcome; Humans; Infant; Male; Mutation, Missense; Nephrotic Syndrome; Point Mutation; Renal Dialysis; Renal Insufficiency
PubMed: 15026863
DOI: No ID Found -
Indian Pediatrics Dec 1995
Topics: Disorders of Sex Development; Humans; Infant; Kidney Neoplasms; Nephrotic Syndrome; Syndrome; Wilms Tumor
PubMed: 8772891
DOI: No ID Found -
Pediatric Nephrology (Berlin, Germany) Feb 2024Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS),...
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically defined by the triad of steroid-resistant nephrotic syndrome (SRNS) onset in the first year of life, disorders of sex development (DSD), and a predisposition to Wilms tumor (WT). Currently, a paradigm shift acknowledges a diverse spectrum of presentations beyond traditional syndromic definitions. Consequently, the concept of WT1-related disorders becomes more precise. A genotype-phenotype correlation has been established, emphasizing that the location and type of WT1 mutations significantly influence the clinical presentation, the condition severity, and the chronology of patient manifestations. Individuals presenting with persistent proteinuria, with or without nephrotic syndrome, and varying degrees of kidney dysfunction accompanied by genital malformations should prompt suspicion of WT1 mutations. Recent genetic advances enable a more accurate estimation of malignancy risk in these patients, facilitating a conservative nephron-sparing surgery (NSS) approach in select cases, with a focus on preserving residual kidney function and delaying nephrectomies. Other key management strategies include kidney transplantation and addressing DSD and gonadoblastoma. In summary, recent genetic insights underscore the imperative to implement individualized, integrated, and multidisciplinary management strategies for WT1-related disorders. This approach is pivotal in optimizing patient outcomes and addressing the complexities associated with these diverse clinical manifestations.
PubMed: 38326647
DOI: 10.1007/s00467-024-06302-y -
Pediatric Nephrology (Berlin, Germany) Sep 2006
Topics: Denys-Drash Syndrome; Diagnosis, Differential; Female; Humans; Infant; Male; Ultrasonography; Wilms Tumor
PubMed: 16823575
DOI: 10.1007/s00467-006-0182-7