Okamuto Satomura syndrome

Overview

A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation.

Symptoms

* Severe mental retardation * Congenital hydronephrosis * Reduced muscle tone * Retarded growth * Cleft palate

Causes

Almost any type of obstructive uropathy can result in hydronephrosis. The most common causes are benign prostatic hyperplasia , urethral strictures, and calculi; less common causes include strictures or stenosis of the ureter or bladder outlet, congenital abnormalities, abdominal tumors, blood clots, and neurogenic bladder. If obstruction is in the urethra or bladder, hydronephrosis is usually bilateral; if obstruction is in a ureter, it’s usually unilateral. Obstructions distal to the bladder cause the bladder to dilate and act as a buffer zone, delaying hydronephrosis. Total obstruction of urine flow with dilation of the collecting system ultimately causes complete cortical atrophy and cessation of glomerular filtration.

Diagnosis

CONFIRMING DIAGNOSIS While the patient’s clinical features may suggest hydronephrosis, excretory urography, isotope renography (radioisotope scan of the kidneys), computed tomography scan of the kidneys or abdomen, abdominal magnetic resonance imaging, renal ultrasound, and renal function studies are necessary to confirm it.

Treatment

The goals of treatment are to preserve renal function and prevent infection through surgical removal of the obstruction, such as dilation for stricture of the urethra or prostatectomy for benign prostatic hyperplasia. If renal function has already been affected, therapy may include a diet low in protein, sodium, and potassium. This diet is designed to stop the progression of renal failure before surgery. Inoperable obstructions may necessitate decompression and drainage of the kidney using a nephrostomy tube placed temporarily or permanently in the renal pelvis or placement of a ureteral stent to allow the ureter to drain. Concurrent infection requires appropriate antibiotic therapy.