Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic kidney: a case report.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder and the fourth cause of death of end-stage renal disease. The disease has a prevalence of 1:400-1:1000 accounting for 10% of patients on dialysis. In most ADPKD patients, bilateral kidneys are similarly affected, with numerous fluid-filled cysts arising from different nephron segments. Only a few cases of ADPKD with ectopic unilateral multicystic kidney have been reported. It has been observed that the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings especially when the ectopic kidney is dysplastic. CASE PRESENTATION: We report a case of a 46-year-old Ghanaian male patient who presented with left flank pain and hematuria with high BP and deranged renal function. Abdominal ultrasonography showed both kidneys to be larger than normal and had multiple cysts of varying sizes with the right kidney located in the right iliac fossa. Follow up Abdominopelvic computer tomographic scan (CT-Scan) without contrast showed enlarged kidneys with the renal parenchyma replaced by innumerable cyst of varying sizes. The right kidney was ectopically located in the right aspect of the pelvis. A diagnosis of ADPKD with right pelvic ectopic multicystic kidney was made. He was put on antihypertensives, analgesia for the left flank pain and to have follow up at the urology and nephrology departments. CONCLUSION: In most ADPKD patients, bilateral kidneys are similarly affected. Only a few cases of ADPKD with ectopic unilateral multicystic kidney have been reported. It has been observed that the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings especially when the ectopic kidney is dysplastic.

Outcome of children with multicystic dysplastic kidney: Does involved side matter?

BACKGROUND: Multicystic dysplastic kidney (MCDK) is a common anomaly detected on antenatal ultrasound. We aimed to assess the profile of children with MCDK and to investigate whether the involved side has any effect on outcome. METHODS: Thirty-nine patients with MCDK and 20 controls were enrolled. Patients who estimated glomerular filtration rate (eGFR) values over 90 mL/min/1.73 m2 were compared with controls. Comparison was made between the involved sides. RESULTS: MKDB was right-sided in 20 (51.3%) and left-sided in 19 (48.7%) patients. 33.3% had additional urinary tract abnormality, 10.2% had systemic abnormality. 82% showed contralateral kidney enlargement. 48.7% involuted, 17.9% underwent nephrectomy. 35.8% suffered from urinary tract infection (UTI). 5.1% had renal scarring (RS). 30% developed microalbuminuria. 12.8% complicated with hypertension. 17.9% progressed to chronic kidney disease (CKD). Hypertension was independent risk factor for developing CKD. Blood pressure, cystatin C and urine microalbumin/creatinine levels were increased, and eGFR values were decreased in patients compared to controls. No significant difference was found between the two sides for rates of involution, UTI, RS, nephrectomy, and additional abnormality. Cystatin C levels were higher on the right than left sides (p = .033). CONCLUSION: Children with MCDK predispose to renal deterioration even at normal eGFR values. Although cystatin C levels tended to increase in right-sided patients, the involved side seemed to have no significant effect on renal outcome. Hypertension was main determinant for progression to CKD in MCDK.

Nephrectomy improves both antihypertensive requirement and left ventricular mass for pediatric renal hypertension.

BACKGROUND: Renal hypertension causes left ventricular (LV) hypertrophy leading to cardiomyopathy. Nephrectomy has been utilized to improve blood pressure and prepare for kidney transplantation in the pediatric population. We sought to investigate antihypertensive medication (AHM) requirement and LV mass in patients undergoing nephrectomy with renal hypertension. METHODS: We performed a single institution retrospective review from 2009 to 2021 of children who have undergone nephrectomy for hypertension. Primary outcome was decrease in number of AHM. Secondary outcomes included change in LV mass and elimination of AHM. LV mass was measured using echocardiogram area-length and linear measurements. Non-parametric analyses were utilized to assess significance. RESULTS: Thirty-one patients underwent nephrectomy. Median age was 12.5 years (0.8-19 years). Median of 3 AHM (range 1-5 medications) were used pre-operatively and patients had been managed for median 2.5 years. Twenty-nine had preoperative echocardiogram. Forty-eight percent of patients had LVH at nephrectomy. Median AHM after surgery was 1 (range 0-4 medications) at 30 days and 12 months, (p < 0.001). By 12 months after nephrectomy, 79.2% of patients had decreased the number of AHM. Eight (26%) patients were on no AHM 30 days after surgery, and 13 (43%) at 12 months. Systemic vascular disease and multicystic dysplastic kidney were the only factors associated with lack of improvement in AHM (p = 0.040). Fourteen patients had pre- and post-operative echocardiogram and 11 (79%) had improvement in LV mass (p = 0.016, 0.035). CONCLUSIONS: Nephrectomy is effective in improving LV mass and reducing AHM for children with renal hypertension. Improvement is less likely in patients with systemic vascular disease and multicystic dysplastic kidneys. A higher resolution version of the Graphical abstract is available as Supplementary information.

Radiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.

Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically. In this pictorial review, we explore the anatomical, radiological and surgical correlations of pelviureteric junction obstruction in the context of a normal kidney and a spectrum of renal abnormalities, including hyper-rotation (also known as renal malrotation), failed renal ascent, fusion anomalies and accessory crossing renal vessels. For each scenario, we provide technical tips on how to identify the altered anatomy at the first ultrasound assessment and correlation with scintigraphic, cross-sectional and postoperative imaging where appropriate. A detailed ultrasound protocol specifically to assess and characterise pelviureteric junction obstruction in paediatric patients is also offered.

Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report.

Congenital anomalies of the kidney and urinary tract (CAKUT) are diagnosed in approximately 3-6 per 1000 live births and represent a spectrum of urologic conditions impacting the kidneys, ureter, bladder, and urethra.1 Although both are considered under the classification of CAKUT, there is no known unifying pathophysiologic mechanism for ureteroceles and posterior urethral valves with only 1 case report noted in the literature. Herein we report the only documented case of a patient with CAKUT related to posterior urethral valves, ureterocele, and multicystic dysplastic kidney.

Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome.

BACKGROUND: Zinner syndrome (ZS), the association of congenital seminal vesicle cyst (SVC) and ipsilateral kidney anomalies, is rarely diagnosed in childhood. This study aimed to assess presentation, imaging findings, management, and outcome of pediatric ZS. METHODS: Sixteen children with ZS were diagnosed and managed at our hospital from 2003 to 2021. We reviewed the medical records to collect data on initial symptoms, results of imaging studies, complications, operation, and follow-up. RESULTS: Ultrasound was used in all 16 cases as initial diagnostic tool. Fourteen patients were asymptomatic at diagnosis: these were transferred from obstetricians or pediatricians for evaluation of the prenatally or postnatally detected ultrasonic kidney anomalies. SVCs were incidentally noted on ultrasonography. The other two cases initially presented with urinary tract infection (UTI). Kidney anomalies included multicystic dysplastic kidney in 3 and kidney agenesis in 13 patients. Eleven (68.7%) patients had ipsilateral ectopic ureters entering SVC. Four (36.4%) patients had a reflux from urethra into SVC (urethro-cystic reflux) on voiding cystourethrography. Ten (62.5%) patients remained asymptomatic over a mean of 58 months (range, 7-216 months), two patients developed lower urinary tract dysfunction, and five patients had UTIs. Two boys needed SVC removal, and SVC had disappeared in two patients after 2.5-4 years of follow-up. CONCLUSIONS: Unilateral kidney hypodysplasia with ectopic ureter inserting into the ipsilateral SVC is a characteristic sign for diagnosis of ZS. In our case series, ZS was mainly asymptomatic. Urethro-cystic reflux was associated with UTIs in young infants. SVC removal was rarely required. A higher resolution version of the Graphical abstract is available as Supplementary information.

Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.

BACKGROUND: Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma. CASE REPORT: A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association. DISCUSSION/CONCLUSION: We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology in utero might aid early and precise diagnosis of multi-organ malformations. Application of modern diagnostic imaging tools is helpful in delineation of the most likely diagnoses (VACTERL-H vs. MURCS) as further specified during detailed pathologic work-up and might consequently facilitate individually tailored interdisciplinary counseling, as in the case presented here.

Neonatal multicystic dysplastic kidney with mass effect: A systematic review.

INTRODUCTION: Multicystic Dysplastic Kidney (MCDK) is a common cause of palpable abdominal mass in a neonate, yet reports are few of resultant life-threatening extrinsic compression. This systematic review is the first to review all known neonatal MCDK cases complicated by external compression due to mass effect. Our aim is to foster communication about these unusual cases to inform management of future comparable cases. METHODS: This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Medical Subject Headings (MeSH) were used to search PubMed through June 8, 2021 as follows: ((((Polycystic Kidney Diseases/complications [MeSH Terms]) OR (Multicystic Dysplastic Kidney/complications [MeSH Terms])) AND (Humans [MeSH Terms]) AND (Infant, Newborn [MeSH Terms]) AND (Case Reports [Publication Type]) AND (("multicystic dysplastic kidney") OR ("multicystic kidney")))) OR ((unusual respiratory distress in newborn [Title]) AND (kidney)) OR (large MCDK). Resulting papers were screened and included if they reported neonatal MCDK complicated by external compression by mass effect. Excluded papers lacked an MCDK diagnosis, a neonatal patient, or clear indication of mass effect. Salient data was extracted from each case for comparison. RESULTS: Of 51 papers screened, seven met inclusion criteria, presenting eight neonatal MCDK patients exhibiting varied combinations of symptoms secondary to external compression, including respiratory distress, gastrointestinal obstruction, and contralateral ureteral obstruction. All eight cases, ultimately managed with neonatal nephrectomy, had positive outcomes. Unreported and undiagnosed cases are not included in this review, making it susceptible to publication bias. CONCLUSIONS: Large neonatal MCDK is typically managed conservatively, however it can be complicated by external compression due to mass effect. In this scenario, nephrectomy is a reasonable and definitive treatment. Less invasive management options may exist, e.g., aspiration with sclerotherapy. Communication about exceptional cases like these should be encouraged even when outcomes are poor.

A Newborn with Retrovesical Cysts and an Ipsilateral Multicystic Dysplastic Kidney.

We present a clinical imaging question focusing on a newborn with known prenatal history of a multicystic dysplastic kidney, and incidental ipsilateral retrovesical seminal vesical cysts, raising the diagnosis of Zinner syndrome. The diagnosis is challenging in this age group. Surgical management is generally proposed for symptomatic cases at an older age.

Renal function in children with a congenital solitary functioning kidney: A systematic review.

INTRODUCTION: Abnormal renal development that results in lack of function or development of one of two kidneys is known as congenital solitary functioning kidney (CSFK). Two well characterized sub-categories of CFSK are unilateral renal agenesis (URA) and multicystic dysplastic kidney (MCDK). This systematic review sought to evaluate the change in renal function in children ≤18 years old with a CSFK as a result of URA or MCDK. METHODS: A literature search in MEDLINE and Embase was conducted (1946 to July 13, 2020). All relevant articles were retrieved and evaluated based on pre-selected criteria by two independent researchers. Data was then extracted from variables of interest and conflicts were resolved by a third researcher. The primary outcome was renal function, and the secondary outcomes were proteinuria and hypertension. RESULTS: Forty-five studies were included, of which 49% (n = 22) were retrospective and/or 58% (n = 26) were cohort studies. A combined total of 2148 and 885 patients were diagnosed with MCDK or URA, respectively. The proportion of children with worsened renal function at follow-up was found to be 8.4% (95% CI: 5.2%-13.4%). Among the studies reporting renal function as a group mean or median at follow-up, 84% (21/25) had a GFR/CrCl above 90 (mL/min/1.73  m2/ml/min). In terms of secondary outcomes, the proportion of children with proteinuria and hypertension was found to be 10.1% (95% CI: 6.9%-14.6%) and 7.4% (95% CI: 5.0%-10.9%), respectively. CONCLUSION: The risk of developing proteinuria (10.1%), hypertension (7.4%), and/or worsened renal function (8.4%) for children with CFSK as a result of MCDK or URA is low. However, the level of evidence in the literature is weak. Further research is needed to identify the predisposing factors that may differentiate the small subset of children with CSFK at a higher risk of developing adverse renal outcomes.

Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report.

BACKGROUND: The association of hypertension with congenital renal hypoplasia has been established. We report a case of an infant who underwent nephrectomy for hypertension. CASE PRESENTATION: Magnetic resonance imaging for the mother revealed fetal renal masses, and fetal multicystic dysplastic kidney was suspected. Following birth, the baby developed hypertension. Numerous investigations revealed that the left kidney was non-functional, and she was initiated on benazepril hydrochloride. However, because the drug response was poor, the left kidney was removed at the age of 7 months. Examination of the renal specimen revealed abrupt transition from normal to atrophic cortex with lobar atrophy and cysts. Tubular atrophy, marked abnormal blood vessels with wall thickening, gathered immature glomeruli, and parenchymal destruction were observed. Renin was partially localized in the proximal tubules and the parietal epithelium of the Bowman's capsule in the immature glomeruli. We speculated that an abnormal vascular structure and irregular renin localizations may be the cause of hypertension. Serum renin and aldosterone levels gradually reduced post-surgery, reaching normal levels on the 90th postoperative day. A long follow-up is needed due to the possibility of the child developing hypertension in the future. CONCLUSION: This is a case of an infant with MCDK, which discusses the clinicopathological features based on the pathophysiological analysis, including renin evaluation.

A comparison between short- and long-term D-J stent in Anderson-Hynes pyeloplasty for pelvi-ureteric junction obstruction.

PURPOSE: A double-J (D-J) stent is usually kept in situ during Anderson-Hynes (A-H) pyeloplasty for pelvi-ureteric junction (PUJ) obstruction. The aim of the study is to determine whether early removal of D-J stent is better than long-term stenting. METHODS: In this prospective comparative study, conducted from January 2018 to April 2019 in Chittagong Medical College Hospital, patients with PUJ obstruction, age less than 12 years, were divided into group A (long-term stenting) and group B (short-term stenting) by simple randomization. Main outcome variables were urinary tract infection (UTI), stent colonization, encrustation, renal cortical thickness, differential renal function (DRF), glomerular filtration rate (GFR), and flow rate in DTPA renogram. RESULTS: There were 31 patients in each group. Median age was 5 years (IQR: 2.3 to 7 years) and male to female ratio was 2.1:1. Frequency of post-operative UTI and stent colonization were significantly higher in group A than group B (p < 0.001). All the patients of both groups had similar improvement in renal cortical thickness, DRF, GFR, and flow rate. The study was potentially limited by its small sample size and high median age (5 years). CONCLUSION: Early removal of D-J stent had lower incidence of UTI, stent colonization, encrustation, and stent migration.

Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary?

OBJECTIVE: To evaluate the value of the voiding cystourethrogram (VCUG) in children with multicystic dysplastic kidney (MCDK) who have a normal versus abnormal contralateral kidney and bladder ultrasound (US), and assess the risk of having vesicoureteral reflux (VUR) or urinary tract infection (UTI) based on the US results. METHODS: A retrospective chart review including children with unilateral MCDK with postnatal US and VCUG available at our institution between January 2008 and September 2017 was performed. Analysis was done to find association between abnormal contralateral US and contralateral VUR and UTI. RESULTS: One hundred and fifty-six children were analyzed; 118(75.6%) patients had a normal contralateral kidney US, while 38(24.4%) had abnormal US. The rate of severe contralateral VUR (grade IV and V) was 2 (1.7%) and 5 (13.2%) in children with normal and abnormal contralateral US, respectively. The risk analysis demonstrated a significant association between severe VUR on the contralateral kidney and an abnormal contralateral US (odds ratio = 7.73; 95%CI: 1.43-41.81; P = 0.018) and no significant association with UTI (odds ratio = 1.58; 95%CI: 0.50-4.94; P = 0.435). CONCLUSION: Our data suggests, the rate of severe contralateral VUR in children with unilateral MCDK and normal contralateral kidney is low. VCUG should be considered for infants with proven MCKD and alterations on the contralateral kidney on US. Following patients with MCDK and normal contralateral kidney without the use of VCUG is a reasonable approach, unless there is development of signs and symptoms of recurrent UTI or deterioration of the renal function. We found that abnormal contralateral kidney US was associated with severe VUR.

Knowledge of vesicoureteral reflux obtained by screening voiding cystourethrogram in children with multicystic dysplastic kidney does not change patient management or prevent febrile urinary tract infection.

INTRODUCTION: While children with multicystic dysplastic kidneys (MCDK) are predisposed to contralateral kidney (CK) vesicoureteral reflux (VUR), it is unknown if this results in an increased risk of urinary tract infection (UTI). The authors hypothesized that knowledge of VUR via voiding cystourethrogram (VCUG) would enable altered practices to prevent UTI and thus reduce the number of febrile urinary tract infections (fUTIs). METHODS: The authors performed a retrospective chart review of all patients at their institution of multiple providers caring for patients with a diagnosis of MCDK from 1/1/07 to 7/14/17. Patients were evaluated for age, sex, circumcision status, race, imaging results on renal ultrasound (RUS) and/or VCUG, occurrence of fUTI, and prophylactic antibiotic (ppx) use. RESULTS: One hundred sixty-five patients were identified; 70% of patients were diagnosed with MCDK on prenatal imaging. Seventy-seven (47%) patients had a screening VCUG after diagnosis of MCDK. Eighteen patients with VCUG had VUR with 13 (17%) having VUR in the CK. Only children undergoing VCUG were placed on ppx with no difference in the use of ppx in patients with and without dilating VUR (45% vs 43%; p = 0.91). Overall, 11 patients experienced a fUTI. There was no significant difference in fUTI between those children who underwent VCUG compared with those who did not (10% vs 3%; p = 0.07). Use of ppx and presence of CK renal anomaly on RUS had no impact on incidence of subsequent fUTI. CONCLUSION: Knowledge of VUR based on VCUG results did not reduce the rate of fUTI or predict ppx use in the practice of multiple providers. The authors feel this confirms the low utility of VCUG in the practical management of otherwise healthy children with MCDK.

Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

Multicystic dysplastic kidney is a congenital kidney malformation consisting of multiple cysts of various sizes without a normal kidney morphology. Incontinentia pigmenti is a rare X-linked dominant genodermatosis, which is usually lethal in males, that presents clinically in 4 stages. Here, we report a case of multicystic dysplastic kidney with ureterovesical junction obstruction and incontinentia pigmenti. Coexistence of these two rare diseases may be a coincidental phenomenon or an association between the two may exist.

Immunohistochemistry and morphometric analysis of pelviureteric junction complexes in children with hydronephrosis.

AIM: The study aimed to analyze the musculature and innervations of pelviureteric junction (PUJ) complex and upper ureter by morphometry and immunohistochemistry in surgically resected specimens of PUJ obstruction and compares the findings with normal controls. MATERIALS AND METHODS: Specimens of the PUJ were obtained from twenty patients with hydronephrosis due to PUJ obstruction undergoing surgical treatment in this unit from 2013 to 2015. In the control group, seven PUJ complexes were taken from patients who had nephrectomy due to trauma and Wilms tumor. The sections were stained with H and E stain and elastic von Gieson stain. For immunohistochemistry, the tissue sections were immunostained by an indirect immunoperoxidase method for S-100 and neuron-specific enolase. RESULTS: Histopathologically, the predominant arrangement of muscle fibers was layered, i.e., a thick circular layer surrounded by two longitudinal layers on either side in PUJ of obstruction patients. S-100 immunoreactivity in the muscle layer showed dense neural innervation in PUJ complex of obstructed patients. CONCLUSIONS: Circular enhanced musculature may cause a sphincter-like activity with holding up of urine. The higher density of neuronal expression in PUJ might be responsible for causing constant contraction and intrinsic obstruction.

Prospective Study on Several Urinary Biomarkers as Indicators of Renal Damage in Children with CAKUT.

PURPOSE: The aim of the study was to investigate urinary levels of monocyte chemotactic protein-1 (MCP-1), epidermal growth factor (EGF), ß-2-microglobulin (ß2M), and FAS-ligand (FAS-L) in children with congenital anomalies of kidney and urinary tract (CAKUT) disease at risk of developing glomerular hyperfiltration syndrome. For this reason, we selected patients with multicystic kidney, renal agenesia and renal hypodysplasia, or underwent single nephrectomy. MATERIALS AND METHODS: This prospective, multicentric study was conducted in collaboration between the Pediatric Surgery Unit in Foggia and the Pediatric Nephrology Unit in Bari, Italy. We enrolled 80 children with CAKUT (40 hypodysplasia, 22 agenetic; 10 multicystic; 8 nephrectomy) who underwent extensive urological and nephrological workup. Exclusion criteria were recent urinary tract infections or pyelonephritis, age > 14 years, presence of systemic disease, or hypertension. A single urine sample was collected in a noninvasive way and processed for measuring by enzyme-linked immunosorbent assay urine levels of MCP-1, EGF, ß2M, and FAS-L. As control, urine samples were taken from 30 healthy children.Furthermore, we evaluated the urinary ratios uEGF/uMCP-1 (indicator of regenerative vs inflammatory response) and uEGF/uß2M (indicator of regenerative response vs. tubular damage). RESULTS: These results suggest that urinary levels of MCP-1 are overexpressed in CAKUT patients. Furthermore, our findings clearly demonstrated that both uEGF/uMCP-1 and uEGF/uß2M ratios were significantly downregulated in all patient groups when compared with the control group. CONCLUSION: These findings further support that CAKUT patients may, eventually, experience progressive renal damage and poor regenerative response. The increased urinary levels of MCP-1 in all groups of CAKUT patients suggested that the main factor responsible for the above effects is chronic renal inflammation mediated by local monocytes.

Bilateral simultaneous "Santosh Post-graduate Institute tubularized flap pyelovesicostomy" in a case of bilateral pelvi-ureteric junction obstruction with bilateral giant hydronephrosis.

We present a case of bilateral giant hydronephrosis (HDN) secondary to bilateral pelvi-ureteric junction obstruction (PUJO) in a young girl, managed successfully by robot-assisted bilateral tubularized flap pyelo-vesicostomy. This case report highlights the feasibility, reproducibility and technicalities of this procedure.