Year : 2000 | Volume
: 17 | Issue : 1 | Page : 54--55
Is primary obstructive megaureter a genetic disease?
K Ramesh, Pawan K Dhar, K Sasidharan
Departments of Urology and Anatomy, Kasturba Medical College, Manipal, India
Department of Urology, Kasturba Medical College, Manipal - 576 119
|How to cite this article:|
Ramesh K, Dhar PK, Sasidharan K. Is primary obstructive megaureter a genetic disease?.Indian J Urol 2000;17:54-55
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Ramesh K, Dhar PK, Sasidharan K. Is primary obstructive megaureter a genetic disease?. Indian J Urol [serial online] 2000 [cited 2021 Jan 26 ];17:54-55
Available from: https://www.indianjurol.com/text.asp?2000/17/1/54/41019
Primary obstructive megaureter is infrequently detected in adults. The familial occurrence of this condition was described for the first time in early 1980s.  Nearly two decades later another case report was published which also supported the heritable nature of this disease.  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.
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.
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.
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.  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, , 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.
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