Nephropathology Specialty Conference

Case 1

This patient was a 4100g, full term product of an uncomplicated pregnancy, born to a 27-year-old G5P3 Ab2 mother with Apgars of 9¹ and 9⁵.   He had a small phallus, mid-shaft hypospadius with meatal stenosis, a chordee and deep bifid scrotum.  Testes were not palpable.  A screen for congenital adrenal hyperplasia was negative and chromosome analysis performed on peripheral blood lymphocytes revealed a 46XY karyotype without demonstrable abnormalities.  At 6 months of age he presented with a two-week history of decreased appetite, vomiting and diminished urine output.  He was small for age and had had multiple middle ear infections.  Evaluation revealed acidosis with hyperkalemia, hypocalcemia, hyperphosphotemia and 3+ proteinuria; he was moderately hypertensive.  The BUN and creatinine were 108 mg/dl (6-20) and 4.2 mg/dl (0.1-0.6), respectively; total protein was 4.8 g/dl (4.2-7.4) and albumin was 2.9 g/dl (2.9-5.5).  Renal ultrasound showed slightly enlarged hyper-echoic kidneys with possible cysts.  An open renal biopsy was done.  

Biopsy Materials

LM - 3 slides

IF - 2 slides

EM - 1 print

Laura Finn, MD

Click on picture to enlarge

Diagnosis: Diffuse Mesangial Sclerosis (Denys-Drash Syndrome)

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Date this page was last edited: 08/21/00 11:30 AM