scholarly journals Posterior Urethral Valve and Prenataly Resolved Multicystic Dysplastic Kidney

PRILOZI ◽  
2021 ◽  
Vol 42 (1) ◽  
pp. 77-81
Author(s):  
Natasha Aluloska ◽  
Snezana Palchevska ◽  
Risto Simeonov ◽  
Zoran Gucev ◽  
Velibor Tasic
Keyword(s):  
Urinary Tract ◽  
Rare Event ◽  
Posterior Urethral Valve ◽  
Multicystic Dysplastic Kidney ◽  
Ultrasound Scan ◽  
Multicystic Kidney ◽  
Dysplastic Kidney ◽  
Urethral Valve ◽  
Normal Thickness ◽  
Work Up

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.

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

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.

scholarly journals Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation

2019 ◽  
Vol 12 (8) ◽  
pp. e229904
Author(s):  
Olivia R Wood ◽  
Tobias Else ◽  
Matthew G Sampson
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Multicystic Dysplastic Kidney ◽  
Pathogenic Variants ◽  
Endocrine Neoplasia ◽  
Dysplastic Kidney ◽  
Multiple Endocrine Neoplasia 2A ◽  
Unique Association

Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, RET variants have never been reported to cause MEN2A and CAKUT together. This child’s family history prompted RET sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of RET (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.

scholarly journals Outcomes of intrauterine interventions for the treatment in fetal urinary tract obstructions

2021 ◽  
Vol 11 (1) ◽  
pp. 7-13
Author(s):  
M Pavlichenko ◽  
N Kosovtsova ◽  
N Bashmakova
Keyword(s):  
Urinary Tract ◽  
Perinatal Outcomes ◽  
Posterior Urethral Valve ◽  
Upper Urinary Tract ◽  
Fetal Kidney ◽  
Original Shape ◽  
Mother And Child ◽  
Urethral Valve ◽  
Cavity System ◽  
Grade Iii

Introduction: The leading cause of chronic renal failure in newborns, which occurs soon after birth is obstructive uropathies. Objectives: To prove the effectiveness of nephroamniotic shunting based on the evaluation of perinatal outcomes of this procedure, as well as a comparative analysis of the use of the stent manufactured by "Cook" (Ireland), 3.0 Fr/100 mm and the stent “SDE–MED”, 3.0 Fr/50 mm with the original shape of pigtails. Methods: After checking the safety of the stent “SDE-MED”, 3.0 Fr/50 mm developed by FGBU Mother and Child Care Research Institute with the original shape of pigtails in an animal experiment, the stent was used in clinical practice for intrauterine shunting in cases of unilateral or bilateral hydronephrosis of grade III to IV and posterior urethral valve disorder. In the final part of the study, a comparison of the outcomes of nephroamniotic shunting using two different stents was made. Results: The “SDE–MED” 3.0 Fr/50 mm stent provided more effective fixation in the fetal kidney cavity system in comparison to the stent manufactured by “Cook” (Ireland) 3.0 Fr/100 mm. Conclusion: Intrauterine shunting surgery of the upper urinary tract is a pathogenetically justified method of treating urinary tract obstructions and can be used to correct all types of fetal renal obstructions.

scholarly journals Fetoscopic laser valve ablation in the posterior urethral valve case with intrauterine diagnosis

2020 ◽  
Vol 28 (3) ◽  
pp. 206-211
Author(s):  
Selahattin Kumru ◽  
Serdar Kaya
Keyword(s):  
Urinary Tract ◽  
Lower Urinary Tract ◽  
Urinary Tract Obstruction ◽  
Treatment Options ◽  
Posterior Urethral Valve ◽  
Fetal Ultrasonography ◽  
Lower Urinary Tract Obstruction ◽  
Urethral Valve ◽  
Lower Urinary

Objective: We aimed to present the procedure of intrauterine percutaneous fetoscopic laser valve ablation performed on a fetus diagnosed with lower urinary tract obstruction. Case(s): Bilateral hydroureteronephrosis, dilated bladder and oligo/ anhydramnios were found in the fetal ultrasonography examination of a 21-year-old pregnant woman who did not have regular follow-ups, and the lower urinary tract obstruction consistent with the posterior urethral valve was considered in the case. The patient who was found to have poor prognosis as a result of vesico synthesis carried out consecutively was informed about the follow-up and treatment options, and the posterior urethral valve ablation was performed by the percutaneous fetoscopic laser on 27 weeks of gestation. The amniotic fluid was at normal levels after the procedure, and the labor was carried out at term. The newborn with elevated postpartum creatinine was diagnosed with stage 2 renal failure, but dialysis was not required during the follow-ups. The newborn was discharged for outpatient follow-up upon the reduced creatinine levels. Conclusion: By taking the survival enhancing effect of the intrauterine intervention into account in the presence of lower urinary tract obstruction, we considered that intrauterine intervention can be an option in the cases who prefer to continue their pregnancies. The families should be informed in detail about the benefits and risks of intrauterine intervention to repair the obstruction.

scholarly journals Single System Ectopic Congenital Giant Megaureter Associated with Ipsilateral Multicystic Dysplastic Kidney

2018 ◽  
Vol 9 (2) ◽  
pp. 11
Author(s):  
Santosh Kumar Mahalik ◽  
Bikasha Bihary Tripathy ◽  
Akash Bihari Pati ◽  
Manoj Kumar Mohanty
Keyword(s):  
Urinary Tract ◽  
Rare Case ◽  
Wide Spectrum ◽  
Multicystic Dysplastic Kidney ◽  
Single System ◽  
Disease Spectrum ◽  
Unusual Association ◽  
Dysplastic Kidney ◽  
Wide Range ◽  
Urinary Tract Anomalies

Congenital anomalies of the kidney and urinary tract (CAKUT) is a disease spectrum of a wide range of structural and functional anomalies. In this report, we have presented a rare case of CAKUT displaying the wide spectrum of renal and urinary tract anomalies with an unusual association like single system ectopic giant megaureter with the ipsilateral multicystic dysplastic kidney.

scholarly journals A study proposal on short term outcome and prognosis of primary and delayed fulguration in posterior urethral valve

2020 ◽  
Vol 7 (10) ◽  
pp. 3389
Author(s):  
Jeevarathi T. ◽  
Gomathi Vadivelu
Keyword(s):  
Urinary Tract ◽  
Renal Insufficiency ◽  
Urinary Tract Obstruction ◽  
Posterior Urethral Valve ◽  
Short Term ◽  
Term Outcome ◽  
Current Series ◽  
Lower Urinary Tract Obstruction ◽  
Urethral Valve ◽  
The Impact

Background: Posterior urethral valve (PUV) is the most common cause of lower urinary tract obstruction in male neonates. The incidence is 1 in 4000, 1 in 7500 births PUV occur exclusively in males. This disease has a broad spectrum of presentations. They may present at any age during childhood and may vary from ascites in the neonate to renal failure in infants and only minor voiding dysfunction in an older child. Urinary tract infection is common at all ages. The objectives of the study were to assess the impact of primary impaction on short term outcomes and to assess the outcome of diversion and delayed fulguration.Methods: This retrospective study was conducted at the Pediatric Urology outpatient department (OPD) at the Institute of Child Health and Hospital for Children, Madras Medical College, Chennai including the patients who attended the pediatric surgery from August 2008 to December 2011.Results: In the current series, the incidence of renal insufficiency in patients with urosepsis was 45%. Recurrent urosepsis >3 episodes in a year (fever with urine culture showing infection) primarily due to poor patient compliance lead to progressing pyelonephritis and nephron damage and plays an important role in the outcome of these children.Conclusions: The incidence of renal insufficiency in children with posterior urethral valves in this series was 38% (30-45%) with an average follow up 3 years. Several factors were important in prognosticating the progression towards renal insufficiency and bladder dysfunction. Urodynamics is of immense help in cases having symptoms despite good stream. The use of anticholinergic for abnormal urodynamics gives encouraging results. 

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