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
| Autor: | Angelena Edwards, Linda A. Baker, Rebecca R. J. Collins, Smitha R. Vidi, Niccolo Passoni, Jyothsna Gattineni |
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| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | Urology. 153 |
| ISSN: | 1527-9995 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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