Back to Search
Start Over
Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingNeonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report
- Source :
- Urology. 153
- Publication Year :
- 2020
-
Abstract
- A term infant with prenatally noted ambiguous genitalia and nonpalpable gonads presented with life-threatening hyponatremia, hypertension, acidosis, and anuric renal failure requiring peritoneal dialysis at age 3 months.Sequencing confirmed 46, XY Denys-Drash syndrome (DDS) due to heterozygous Wilms tumor-1 exon 8 mutation encoding p.His445Arg. Renal US identified bilateral multifocal renal masses at age 8 months. Bilateral retroperitoneal nephrectomies found bilateral nephroblastomatosis without Wilms' tumor avoiding chemotherapy, followed by bilateral laparoscopic orchiopexies. We suggest monthly screening of 46, XY DSD cases for DDS by evaluating for proteinuria and electrolyte disarray starting at diagnosis of DSD to prevent acute life-threatening renal failure presentation.
- Subjects :
- medicine.medical_specialty
Pediatrics
Denys–Drash syndrome
medicine.medical_treatment
Urology
Writing
030232 urology & nephrology
Disorders of Sex Development
Urologic Oncology
Medical Oncology
Peritoneal dialysis
03 medical and health sciences
Electrolytes
0302 clinical medicine
Medicine
Humans
Nephroblastomatosis
Societies, Medical
Chemotherapy
Proteinuria
business.industry
Infant
Congresses as Topic
medicine.disease
Denys-Drash Syndrome
Pediatric urology
Early Diagnosis
030220 oncology & carcinogenesis
Female
medicine.symptom
business
Hyponatremia
Subjects
Details
- ISSN :
- 15279995
- Volume :
- 153
- Database :
- OpenAIRE
- Journal :
- Urology
- Accession number :
- edsair.doi.dedup.....cd00f822454b61cd60d58b13181baedb