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CASE REPORT
Year : 2000  |  Volume : 17  |  Issue : 1  |  Page : 54-55
 

Is primary obstructive megaureter a genetic disease?


Departments of Urology and Anatomy, Kasturba Medical College, Manipal, India

Correspondence Address:
K Sasidharan
Department of Urology, Kasturba Medical College, Manipal - 576 119
India
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Keywords: Megaureter; Renal Failure; Familial.


How to cite this article:
Ramesh K, Dhar PK, Sasidharan K. Is primary obstructive megaureter a genetic disease?. Indian J Urol 2000;17:54-5

How to cite this URL:
Ramesh K, Dhar PK, Sasidharan K. Is primary obstructive megaureter a genetic disease?. Indian J Urol [serial online] 2000 [cited 2014 Jul 30];17:54-5. Available from: http://www.indianjurol.com/text.asp?2000/17/1/54/41019



   Introduction Top


Primary obstructive megaureter is infrequently detected in adults. The familial occurrence of this condition was described for the first time in early 1980s. [1] Nearly two decades later another case report was published which also supported the heritable nature of this disease. [2] In both the reports, researchers observed mother to daughter trans­mission. The present study is the third report that describes primary obstructive megaureter in a family. A special fea­ture of our finding is the association of renal failure with primary obstructive megaureter in both members. The pedigree analysis of the family strongly suggests the con­dition to be an autosomal recessive disorder.


   Case 1 Top


A 39-year-old male was admitted to the hospital to re­dress breathlessness of one week duration. At the time of clinical examination he was also found to have pallor, se­vere dyspnoea and bilateral basal crepitations.

Laboratory examinations revealed low haemoglobin of 8.5 gm% and elevated levels of serum creatinine (20.2 mg%) and blood urea (231 mg%). Ultrasound abdomen showed a left kidney (11.2 x 3.3 cms 2 ) with gross hydro­ureteronephrosis and grade II parenchymal changes. Left ureter was dilated and tortuous. Right kidney (5.4 x 2.2 cms 2 ) showed grade III parenchymal changes. Urinary bladder and prostate were found to be normal. Mictura­ting cystourethrogram disclosed no reflux. Ureteric ori­fices were of normal disposition and configuration on cystoscopy. Left bulb ureterogram showed grossly dilated and tortuous ureter, with evidence of juxtahiatal narrow­ing, consistent with a diagnosis of primary obstructive megaureter.

The patient was put initially on dialysis and improved symptomatically. Subsequently a percutaneous nephro­stomy was done on the left side. Later when the condition stabilized, he underwent a reimplantation of left ureter after a month. Following surgery, he had good diuresis and the renal function improved. The serum creatinine declined postoperatively to 5.9 mg%. The patient is currently on maintenance dialysis.


   Case 2 Top


The brother of the first patient, a 38-year-old male was admitted with renal failure and metabolic acidosis. Labo­ratory investigations revealed high level of serum creati­nine (17.3 mg%) and blood urea (229 mg%). He was fairly asymptomatic until about 2 weeks prior to admission. On sonographic evaluation, there was gross left hydrouretero­nephrosis, with grade II parenchymal changes and renal size of 10 x 3.3 cms. Right kidney (5.7 x 2.6 cms) showed grade III parenchymal changes. Micturating cystourethro­gram did not reveal any reflux. Cystoscopy was unremark­able. Left bulb ureterogram disclosed dilated ureter and pelvicalyceal system with evidence of drainage impedi­ment at the ureterovesical junction. The patient underwent left ureteric reimplantation after one month. He had diu­resis, and creatinine subsequently stabilized to 5.0 mg%. He remained stable for a period of 8 months. He was sub­sequently on regular maintenance dialysis for a period of another 8 months. He succumbed later due to renal-fail­ure-related complications.


   Conclusions Top


The inheritance pattern of primary obstructive mega­ureter is still unknown. Increased preponderance of this condition in males (1.5-4.8 times) has been reported in the past. [3] Due to extreme rarity of this disease, a well­defined genetic component of this pathologic condition remains to be explored. In the present study, we found both the brothers in the family presenting unilateral pri­mary obstructive megaureter, involving left kidney. Overall the pedigree consisted of 42 members spanning four ge­nerations. Interestingly, an association of renal failure with primary obstructive megaureter was observed in both the patients. From the present observation [Figure 1] and also from previous reports, [1],[2] the condition seems to be a single gene disorder. Further, due to the (i) mother-to-daughter trans­mission, (ii) absence of father-to-son transmission, and (iii) prevalence of both affected males and females, this condition closely resembles an autosomal recessive dis­order. We also observed its absence of transmission from affected male to his offsprings. The association of `renal failure' with 'megaureter' condition in both the patients is strongly suggestive of close linkage between these two loci. However to validate our hypothesis more studies are required, especially the ones involving large pedigrees.

 
   References Top

1.King LR. Vesicoureteral reflux, megaureter, and ureteral reimplantation. In: Walsh PC (ed.). Cambell's Urology (6 th ed.). New York: Saunders 1992; 1689-1742.  Back to cited text no. 1    
2.Tatu W, Brennan RE. Primary Megaureter in a mother and daugh­ter. Urol Radiol 1981; 3: 185-187.  Back to cited text no. 2  [PUBMED]  
3.Yavascaoglu I, Alper E, Akcaglar S, Oktay B, Simsek U, Ozyurt M. Primary Megaureter in a mother and daughter. Br J Uro 1998; 82: 923-924.  Back to cited text no. 3    


    Figures

  [Figure 1]



 

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    Introduction
    Case 1
    Case 2
    Conclusions
    References
    Article Figures

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