ESPE Abstracts (2019) 92 P3-241

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

jun zhang, song guo, qiuli chen, huamei ma, yanhong li, hongshan chen, minlian du, cheng cheng, minyi ye


Department of Pediatrics, the First Affiliated Hospital, Sun Yat-sen University, guangzhou, China


Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.

Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).

Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 because of "edema, reduced urine output for 3 weeks". 2018-10-18 laboratory tests in other hospital: urinary protein 3+, RBC 2+, blood Hb 69g/L, PLT 82x10^9/L, blood UREA 77.2mmol/L, CREA 961umol/L, combined with hypertension (BP 130/90mmHg). Then CRRT was given to the patient and "sodium nitroprusside " was given to control the blood pressure and other supportive treatment. The child's edema was reduced and blood pressure was well controlled. But there was still no urine output. Past history, personal history, and family history are not abnormal.

Physical examination after hospitalization: Weight: 12Kg (-1SD) Height: 86cm (-3SD), moderate anemia, mild edema, no abnormal findings in the lungs heart or abdomen. Female vulva, no clitoris hypertrophy. The testicles are not touched on both sides of the labia majora.

Laboratory examination: blood Hb 66g/L, PLT 494x10^9/L,reticulocyte ratio 0.0539, reticulocyte absolute value 0.1093x10^12/L. blood UREA 21.5mmol / L, CREA 392umol / L. Blood smear: RBC size is uneven. Color Doppler: the size of the left kidney was 6.4 x 3.0 cm, and the size of the right kidney was 6.2 x 2.4 cm. Gonadal color ultrasonography: bilateral dysplasia testis can be seen in the abdominal cavity. Chromosome karyotype is 46, XY. Gene testing: the WT1 gene undergoes de novel mutation, which is a heterozygous mutation, a missense mutation, c.754G>A, resulting in amino acid change p. D252N.

Our children are currently treated with symptomatic treatments such as antihypertensive and EPO and peritoneal dialysis. Pre-transplantation gene matching has been completed and a kidney transplant is planned. This child is currently being raised as a girl. Because of the high risk of malignant tumors in the gonads of the child, it is planned to have a gonadal resection during kidney transplantation.

Conclusion: Acute/chronic renal insufficiency in infants and young children may be caused by genetic factors. In addition, patients with gonadal dysplasia should be alert to the possibility of WT1 gene mutation.

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