Uretero-pelvic Junction Obstruction and Posterior Urethral Valve Diagnosed with Contra Lateral Multicystic Dysplastic Kidney: Association Unveiled

Abstract Multicystic dysplastic kidney is a rare congenital anomaly of the kidney and urinary tract. The association with the posterior urethral valve is also very rare. Here we present a patient with both entities and prenatal resolution of the cysts. A 10-week old baby was referred for nephrourological work up due to prenatal diagnosis of the left multicystic kidney. He had serial US scans during the pregnancy. Immediately before delivery the cysts were not seen (prenatal resolution). There were no extrarenal anomalies. The first postnatal ultrasound scan revealed normal sized right kidney without dilatation of the pelvicalyceal system. The bladder had normal thickness of the wall. Technetium-99m dimercaptosuccinic acid scan showed no activity on the left side, and the right kidney appeared normal. At two months of age, a poor urinary steam was observed and additional urologic work up was indicated on clinical suspicion of PUV. Voiding urethrocystography revealed posterior urethral valve and the baby underwent cytoscopic valve resection. Conclusion: We present a rare association of two congenital anomalies of the kidney and urinary tract with prenatal involution of the multicystic dysplastic kidney that is extremely rare event as seen in our case. Presence of posterior urethral valve must be suspected in a male baby with a poor urinary stream even when his ultrasound scan of urinary system appears normal.

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Deciphering the Mutation Spectrum in South Indian Children With Congenital Anomalies of the Kidney and Urinary Tract

10.21203/rs.3.rs-433812/v1 ◽

2021 ◽

Author(s):

Ambili Narikot ◽

Varsha Chhotusing Pardeshi ◽

Shubha AM ◽

Arpana Iyengar ◽

Anil Vasudevan

Keyword(s):

Urinary Tract ◽

Congenital Anomalies ◽

Posterior Urethral Valve ◽

Genetic Diagnostics ◽

Genetic Profile ◽

Fetal Life ◽

Indian Children ◽

South Indian ◽

Dysplastic Kidney ◽

Urethral Valve

Abstract Background: Congenital anomalies of the kidney and urinary tract (CAKUT) cover a spectrum of structural malformations that result from aberrant morphogenesis of kidney and urinary tract. It is the most prevalent cause of kidney failure in children. Hence, it is important from a clinical perspective to unravel the molecular etiology of kidney and urinary tract malformations. Causal variants in genes that direct various stages of development of kidney and urinary tract in fetal life have been identified in 5–20 % of CAKUT patients from Western countries. Recent advances in next generation sequencing technology and decreasing cost offer the opportunity to characterize the genetic burden of CAKUT in Indian population and facilitate integration of genetic diagnostics in care of children with CAKUT. Methods: Customized targeted panel sequencing was performed to identify mutations in 31 genes known to cause human CAKUT in 69 south Indian children with CAKUT. The NGS data was filtered using standardized pipeline and the variants were classified using ACMG criteria. Genotype and phenotype correlations were performed. Results: The cohort consisted of children mostly with posterior urethral valve (PUV) (39.1%), vesico-ureteric reflux (VUR) (33.3%) and multi-cystic dysplastic kidney (MCDK) (7.2%). Likely pathogenic variants were identified in two genes (TNXB and CHD1L) in 2 children (9 %) with CAKUT. One child diagnosed with posterior urethral valve (PUV) had mutation in two different genes [TNXB (p. Gln286fs), and CHD1L (p. Ser837fs)], while second child with left duplex system had a single gene mutation in TNXB gene (p. Gln286fs). Conclusions: The present study identified novel monogenic mutations in only a small proportion of patients with CAKUT using a targeted gene panel. The low prevalence of genetic cause may be due to higher proportion of children with abnormalities in lower urinary tract than hypodysplasia of kidneys. Clinical or whole exome sequencing may be a better method to characterize the genetic profile of Indians patients with CAKUT.

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A CASE REPORT OF CONGENITAL POSTERIOR URETHRAL VALVE ASSOCIATED WITH PARAURETERAL DIVERTICULUM AND DYSPLASTIC KIDNEY

The Japanese Journal of Urology ◽

10.5980/jpnjurol1928.74.4_655 ◽

1983 ◽

Vol 74 (4) ◽

pp. 655-661

Author(s):

Tadashi Harada ◽

Hiromitsu Noto ◽

Takashi Suzuki ◽

Osamu Nishizawa

Keyword(s):

Case Report ◽

Posterior Urethral Valve ◽

Dysplastic Kidney ◽

Urethral Valve

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Clinical and Radiological Changes after use of Alpha-1 Blocker Therapy in Patients of Posterior Urethral Valve with Bladder Neck Hypertrophy

JMS SKIMS ◽

10.33883/jms.v12i1.7 ◽

2009 ◽

Vol 12 (1) ◽

pp. 3-7

Author(s):

Aejaz A Baba ◽

Bajpai Minu

Keyword(s):

Bladder Neck ◽

Posterior Urethral Valve ◽

Posterior Urethral Valves ◽

Blocker Therapy ◽

Urethral Valve ◽

Novel Method ◽

Radiological Changes ◽

Group 2 ◽

Mean Time ◽

Group 1

Background: We evaluated the effects of alpha-1 blocker therapy on clinical and radiological abnormalities in patients of posterior urethral valve with bladder neck hypertrophy. Materials and Methods: A total of 74 patients with posterior urethral valves were seen at our department between 2003 and 2007. Out of these 24 had radiological evidence of bladder neck hypertrophy. Those patients with bladder neck hypertrophy who were seen before June 2006 and did not receive alpha-1 blocker (prazocin) therapy after valve ablation were assigned to group 1 (n=10). Group 2 consisted of 14 age matched patients with bladder neck hypertrophy and comparable prognostic factors who received alpha-1 blocker therapy after valve ablation (n=14). Micturating cystourethrography (MCU) was done periodically and a novel method used to calculate bladder neck hypertrophy. Trends in symptoms and radiological changes were evaluated throughout follow-up. Results: Mean patient age at presentation was 3.02±2.68 years in group 1 and 3.12±3.4 years in group 2. Bladder neck hypertrophy decreased from 2.3±1.0 to 2.0±0.5 in a mean time of 52.0 (34-52) weeks in group 1 where as it decreased from 2.2±0.5 to 1.6±0.3 in a mean time of 32.0 (22-52) weeks. Symptomatically patients in group 2 who received alpha-1 blocker therapy after valve ablation were better and had quick resolution of bladder neck hypertrophy. Conclusions: Use of alpha-1 blocker therapy in patients of posterior urethral valve with bladder neck hypertrophy helps in quick resolution of bladder neck hypertrophy. J Med Sci 2009;12(1):3-7.

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Posterior Urethral Valve a Correlation between Role of Ultrasound and Micturating Cystourethrogram.

International Journal of Scientific Research ◽

10.15373/22778179/dec2013/186 ◽

2012 ◽

Vol 2 (12) ◽

pp. 18-20

Author(s):

DR. HARDIK BRAHMBHATT ◽

◽

Dr. Viplav Gandhi ◽

Dr. Gurudatt Thakkar

Keyword(s):

Posterior Urethral Valve ◽

Micturating Cystourethrogram ◽

Urethral Valve

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Outcome of posterior urethral valve in 64 children: a single center's 22-year experience

Minerva Urologica e Nefrologica ◽

10.23736/s0393-2249.19.03272-7 ◽

2019 ◽

Vol 71 (6) ◽

Cited By ~ 1

Author(s):

Mehtap Ezel Çelakil ◽

Zelal Ekinci ◽

Burcu Bozkaya Yücel ◽

Nazım Mutlu ◽

Ayla Günlemez ◽

...

Keyword(s):

Posterior Urethral Valve ◽

Urethral Valve

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Cytogenomic aberrations in isolated multicystic dysplastic kidney in children

Pediatric Research ◽

10.1038/s41390-021-01476-9 ◽

2021 ◽

Author(s):

Tian-Jian Chen ◽

Renfang Song ◽

Adam Janssen ◽

Ihor V. Yosypiv

Keyword(s):

Multicystic Dysplastic Kidney ◽

Dysplastic Kidney

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Laparoscopic transposition for crossing vessels (vascular hitch) in pure extrinsic pelvic-ureteric junction obstruction: a successful case report of a 2-year-old infant with horseshoe kidney

Surgical Case Reports ◽

10.1186/s40792-021-01190-y ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Satoshi Ieiri ◽

Kouji Nagata

Keyword(s):

Laparoscopic Surgery ◽

Left Kidney ◽

Horseshoe Kidney ◽

Renal Scintigraphy ◽

Multicystic Dysplastic Kidney ◽

Extrinsic Compression ◽

Dysplastic Kidney ◽

Renal Vessels ◽

The Right ◽

Crossing Vessels

Abstract Background Pediatric hydronephrosis induced by pelvic-ureteric junction obstruction (PUJO) is treated by dismembered pyeloplasty (DP) via open and laparoscopic surgery. The etiology of PUJO involves both intrinsic stenosis and extrinsic compression of crossing vessels (CVs). PUJO owing to CVs is also treated by DP, as there is no consensus concerning this vascular condition. We encountered a 2-year-old infant with pure extrinsic PUJO combined with horseshoe kidney who successfully underwent laparoscopic transposition for CVs (vascular hitch). Case presentation A 2-year-old boy was prenatally diagnosed with left multicystic dysplastic kidney (MDCK) and right hydronephrosis and received a definitive diagnosis after birth. At 6 months old, renal scintigraphy revealed a non-functioning pattern in the left kidney and an obstructive pattern in the right, showing no response to furosemide loading. The patient also had recurrent urinary tract infection, and his right hydronephrosis gradually worsened. We decided to perform surgery for the right PUJO. Preoperative enhanced computed tomography detected three right renal vessels independently branching from the abdominal aorta. The middle renal vessels were located at the ventral side of the pelvis and coincident with the site of PUJO. These vessels were suspected of being CVs. The patient underwent laparoscopic surgery electively. A 5-mm trocar was inserted at the umbilicus for a 5-mm, 30° rigid scope. Two additional ports were then inserted under laparoscope inspection. The dilated right pelvis and CVs were detected after ascending colon mobilization. To confirm the pathogenesis of PUJO, the CVs were dissected and taped. After taping the CVs, an intraoperative diuretic test was performed using furosemide loading. Peristalsis of the right ureter was recognized, and the extrinsic PUJO owing to the CVs was definitively confirmed. We therefore performed transposition for the CVs (vascular hitch procedure). The CVs were mobilized in the cranial direction and those were wrapped by dilated pelvis. The post-operative course was uneventful. The renal scintigraphy findings improved and showed a favorable response of furosemide loading. Conclusions The laparoscopic vascular hitch procedure is minimally invasive and effective for extrinsic PUJO due to CVs. Anastomotic stricture after Anderson and Hynes DP can be prevented by appropriate patient selection.

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