1/3. A case of nephrogenic diabetes insipidus caused by obstructive uropathy due to prostate cancer.Nephrogenic diabetes insipidus (DI) secondary to chronic urinary tract obstruction is a rare disease. The exact cause is unknown but it is likely that increased collecting duct pressures cause damage to the tubular epithelium, resulting in insensitivity to the action of arginine-vasopressin (AVP). A 77-year-old man complaining of polyuria and polydipsia was treated with alpha glucosidase inhibitor under the impression of polyuria due to diabetes mellitus. But his symptoms did not improve. water deprivation and AVP administration study revealed that the patient had nephrogenic DI. urinary tract obstruction due to an enlarged prostate was suggested as a principal cause of nephrogenic DI. The patient underwent transurethral resection of the prostate and bilateral subcapsular orchiectomy. After surgery, the urine osmolarity was normalized and the patient became symptom-free. We report a case of nephrogenic DI due to obstructive uropathy which was cured by surgery eliminating obstruction.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/3. early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure.INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh. Unfortunately, many of these patients remain without proper diagnosis or adequate treatment due to lack of recognition of the disease. This can ultimately result in upper tract deterioration and eventual renal failure. We present our experience with this rare syndrome. MATERIALS AND methods: We identified 3 patients who presented initially with acute renal failure, urinary tract infection (UTI) and severe dysfunctional elimination. All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome. RESULTS: At the outset, the two older patients (aged 4 and 9 years) presented with the typical facial features when attempting to smile or laugh. One patient in the newborn period presented with urinary and fecal retention and septicemia and, to our knowledge, represents the youngest case of urofacial syndrome reported so far. All patients were evaluated with ultrasonography, renal scan, voiding cystourethrogram (VCUG) and urodynamics. Findings included hydronephrosis and a thick-walled, trabeculated bladder with poor compliance and detrusor hypereflexia respectively in each patient. All were subsequently treated with clean intermittent catheterization (CIC), antibiotic prophylaxis and anticholinergic therapy. One patient required appendicovesicostomy for CIC due to discomfort secondary to a sensate urethra. CONCLUSIONS: Our series demonstrates that early recognition of this rare syndrome is necessary to adequately treat and prevent upper tract deterioration in these unique individuals. Although the urofacial is difficult to diagnose in infants, cognizance must be maintained in order to prevent severe subsequent sequalae.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/3. Malakoplakia of the urinary tract.The authors report 4 cases of urinary tract malakoplakia. This rare disease of unknown etiopathogenesis can present with a benign character in the bladder, but when the upper urinary tract is affected, loss of renal function can occur. Treatment aims to control the primary infection, as well as enhance intracellular bactericidal activity, which seems to be compromised in these cases. Cytoreductive surgery may be indicated when this treatment fails.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |