Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked head lag. Family studies confirmed the X-linked mode of inheritance of the disease; in case 1 the disease appeared to have arisen as a new mutation in the mother, and in case 2 the carrier status was traced back to the great-grandmother. Pitfalls in the diagnosis and detection of the carriers are discussed. Treatment with thiazide diuretics and prostaglandin synthesis inhibitors is effective in reducing urine volumes and polydipsia. The early detection of the disease and adequate management may prevent such complications as megacystis, mega-ureter and hydronephrosis, with resulting renal failure. Mental and physical retardation may also be avoided.
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PMID:Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. 373 62

Congenital ureteric valves causing upper urinary tract obstruction was discovered after operation in 4 adults who had presented with different urological problems. The fifth patient, an infant, presented with failure to thrive and was suspected of having a congenital ureteric valve prior to operation. The infant had gross hydronephrosis and was treated by excision of the segment containing the valve and end-to-end anastomosis of the ureter and pyeloplasty because of a narrow pelviureteric junction. Three adults had severe kidney damage and underwent nephrectomy. The fourth adult, who had a horseshoe kidney with 4 small stones in the lowermost calix, underwent pyelolithotomy; in addition, the segment bearing the valve was excised and a ureteropyelostomy was carried out.
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PMID:Congenital ureteric valves--a cause of urinary obstruction. 708 50

We report on a neonate with a history of failure to thrive who had a large right abdominal mass. Renal ultrasound showed a large cystic mass that arose from the upper pole of the hydronephrotic right kidney. Preoperative antegrade pyelography confirmed that the mass communicated with 1 kidney. Further evaluation revealed no communication of the ureter with the bladder or vagina. Exploratory surgery identified the mass and intraoperative pyelography revealed no communication with the bladder. After resection of the mass and nephrostomy placement, reimplantation of the right ureter demonstrated complete atresia of the distal right ureter. Preservation of the remaining renal parenchyma was possible, because the functioning lower pole collecting system communicated with the cystic mass that arose from the upper pole.
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PMID:Complete nonunion of the ureterovesical junction with preservation of renal function. 815 89

Megalourethra, a rare congenital disorder involving the anterior urethra, is subdivided into two types: Fusiform and scaphoid. Two cases of scaphoid type megalourethra are reported. The first patient, a 5-weeks-old infant diagnosed at birth as having the prune belly syndrome was admitted to the hospital with vomiting and failure to thrive. Intravenous pyelogram revealed marked dilatation of the left ureter and a bladder diverticulum. A penile urethrostomy was performed. The second patient, born to healthy parents after an uneventful pregnancy and delivery, was found to have an enlarged and deformed penis. The baby voided with a poor stream and a concomitant swelling of the penis was noted. Retrograde uretrography showed a sac-like dilatation of the penile urethra. Surgical revision was carried out a 2 stage procedure and was completed (Nesbitt's operation) after 4 months. The patient did well postoperatively and voided with a normal stream without any abnormality of the penile shaft.
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PMID:Congenital megalourethra. 1083 81