ABSTRACT
Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.
Subject(s)
Humans , Male , Disorder of Sex Development, 46,XY , Autopsy , Biopsy , Denys-Drash Syndrome , Disorders of Sex Development , Genitalia , Hematuria , Hypertension , Karyotype , Kidney , Nephrectomy , Nephrotic Syndrome , Proteinuria , Renal Insufficiency , Sclerosis , Ultrasonography , Wilms TumorABSTRACT
The hemodynamic feature of the tetralogy of Fallot (TOF) is best characterized by equality of left and right ventricular peak systolic pressure. The interventricular septum is flattened and thickened. Even after the right ventricular pressure is normalized in the postoperative period, the morphological abnormality continues for some time We have analyzed the morphological changes of the IVS echocardiographically after total correction and tried to correlate them with the prognosis of the patients. Forty five patients underwent total correction of TOF between May 1991 and July 1992.The IVS morphology was assessed with 2-D echocardiography before and after surgery. The control group consisted of 15 normal subjects(8 with functional cardiac murmur and 7 with non-cardiac diseases).We also evaluated the influence of the residual pulmonary regurgitation(PR) or pulmonic stenosis (PS) upon sequential changes in the end-systolic configuration and the thickness of the IVS. The following results were obtained. 1) Four months after total correction the IVS thickness and configuration at end-systole of the study patients were normalized, and they were not significantly different compared to those of the control group. 2) The postoperative residual PR of mild to moderate degree did not influence the course of morphological normalization. On the other hand, the postoperative residual PS greater than moderate degree hindered the normalization process. And the morphological abnormalities in the patients with the residual PS lasted longer than in the patients with the residual PR. 3) It would be necessary to perform cardiac catheterization in order to evaluate and to take care of the residual hemodynamic abnormalities if the IVS morphology remains to be abnormal even after one year after total correction.
Subject(s)
Humans , Blood Pressure , Cardiac Catheterization , Cardiac Catheters , Echocardiography , Hand , Heart Murmurs , Hemodynamics , Postoperative Period , Prognosis , Pulmonary Valve Stenosis , Tetralogy of Fallot , Ventricular PressureABSTRACT
No abstract available.