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.

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.

Prenatal diagnosis and outcome of unilateral multicystic kidney.

We reviewed the records of 144 patients. The mean gestational age at first US diagnosis was 27.5 ± 4.3 weeks. An anomaly of the contralateral kidney was detected in 25% of cases. An extrarenal anomaly was detected in 13.8%. Karyotype analysis was performed in 16.6% of cases and revealed trisomy 18 in 2 cases with extrarenal defects. Karyotype analysis was normal in all the patients who had isolated multicystic dysplastic kidney (MCDK). The diagnostic accuracy of prenatal ultrasound was 92.2%. Contralateral kidney anomaly was detected 33.9% of patients, and half of these were vesicoureteral reflux. Antihypertensive therapy was required in 2.6% of cases. Nephrectomy was performed in 8%, and partial or total involution of MCDK was achieved in 33.9% of patients. MCDK can be accurately diagnosed by prenatal sonography, and prognosis depends on extrarenal and contralateral renal abnormalities. In isolated cases, require of surgery is rare, and serial follow-up is suggested to determine involution.Impact statementWhat is already known on this subject? Multicystic dysplastic kidney (MCDK) is one of the most renal anomalies and is associated with numerous renal and extrarenal abnormalities. It can lead to severe consequences in the neonatal period.What do the results of this study add? The accuracy of prenatal ultrasonography is excellent for detecting MCDK. In isolated unilateral cases, chromosomal aberrations are low, and the majority of them involute spontaneously. A periodic follow-up of the contralateral kidney is mandatory due to an increased risk of an anomaly. Genital anomaly risk is increased in males.What are the implications of these findings for clinical practice and/or further research? Detailed evaluation and follow-up of the contralateral kidney are crucial for counselling in isolated cases. Karyotype analysis in isolated unilateral MCDK is debateable. Postnatal prognosis is encountering, and the majority of patients have no requirement of surgery.

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.

Renal dysplasia masquerading as a renal mass in a child on hemodialysis.

Pathological renal mass is uncommon in children. It is important to differentiate this from a benign mass or mass-like lesion (pseudomass) for proper management. Renal dysplasia is a common finding in patients with end stage renal disease and can mimic a renal mass. Here, we report a 16-year-old girl on hemodialysis who was found to have a nodular right renal mass in the sonogram. Magnetic resonance imaging confirmed the nodular mass. She underwent right nephrectomy and the histopathology revealed features of renal dysplasia and end stage kidney disease without any evidence of malignancy. No further treatments were necessary. This case demonstrates that a nodular renal mass in dialysis patients does not always mean malignancy and could be a pseudomass from severe renal dysplasia. Since a sonogram may not be able to clearly define the etiology of solid mass in these patients, further evaluations including a renal histology and/or other imaging modalities are often necessary.

Late occurrence of pelvi-ureteric junction obstruction in renal allograft and live-related kidney donor.

Pelvi-ureteric junction (PUJ) obstruction is an enigmatic condition. While in a reasonable majority it is clear cut, the diagnosis and the need for intervention in the remainder is still a challenge. We would like to share the details of two cases, one in a transplant recipient and the other in a living kidney donor, and propose an explanation as to why PUJ obstruction becomes manifest after such a long period of time. In this presentation, we would like to propose that forced drinking of fluids by patients who have an equivocal PUJ and a single kidney could tilt the balance resulting in overt PUJ obstruction.

Magnetic resonance imaging for evaluation of foetal multicystic dysplastic kidney.

We sought to evaluate the diagnostic value of foetal magnetic resonance imaging (MRI) for multicystic dysplastic kidney (MCDK) disease. We retrospectively identified 55 foetuses with MCDK diagnosed (51 unilateral; 4 bilateral) by foetal MRI. We analysed the anatomical findings by prenatal MRI and compared them with the prenatal ultrasound (US) and postnatal findings. Additional diagnostic information added by MRI was recorded. The gestational age of the 55 foetuses ranged from 22 to 35 weeks (mean, 26.5 ± 3.6 weeks). The age of the pregnant women ranged from 23 to 40 years (mean, 31 ± 4.2 years). All 55 cases were performed at 1.5 T magnetic resonance unit. MRI sequences, including steady-state free precession (SSFP), single-shot fast spin echo (SSFSE), T1-weighted imaging (T1WI), and diffusion weighted imaging (DWI) sequences. Follow-up was obtained for 53 cases (2 cases of autopsy, 51 cases of postnatal imaging or surgery confirmed). Among the 51 unilateral cases, 16 cases were associated with other urinary tract anomalies, 3 cases with extra-renal anomalies, and the remaining 32 cases without associated anomalies. 2 of 16 cases with contralateral renal agenesis were with oligohydramnios and pulmonary hypoplasia. 2 of 4 bilateral MCDK presented with oligohydramnios and pulmonary hypoplasia. 52 of 53 cases were correctly diagnosed by MRI compared with the final diagnoses; 40 of 53 (75.5%) cases were correctly diagnosed by prenatal ultrasound. Both prenatal ultrasound and MRI failed to correctly diagnose one case bilateral MCDK, and MRI correctly changed the ultrasound diagnosis in 12 cases. Foetal MRI can add additional diagnostic information to prenatal US in the assessment of MCDK, even change the prenatal counselling and decisions.

Clinical features of children with multicystic dysplastic kidney.

BACKGROUND: To evaluate the clinical features of patients with multicystic dysplastic kidney (MCDK). METHODS: The medical files of children diagnosed with MCDK between January 2008 and November 2015 were retrospectively reviewed. The demographic, clinical, laboratory and radiological data were evaluated. RESULTS: Of 128 children with MCDK enrolled in the study, 82 (64.1%) were male, and 46 (35.9%) were female (P < 0.05). MCDK were located on left and right sides in 66 (51.6%) and 62 children (48.4%), respectively (P > 0.05). Antenatal diagnosis was present in 64 patients (50%). The mean age at diagnosis was 2.8 ± 2.7 years (range, 0-8 years), and follow-up duration was 4.5 years. Fifteen patients (20.8%) had vesicoureteral reflux. Of these, four underwent endoscopic surgical correction. Other associated urological anomalies were ureteropelvic junction obstruction (n = 6), hypospadias (n = 1), and kidney stones (n = 1). On technetium-99 m dimercaptosuccinic acid scintigraphy, which was performed in all patients, no significant association between grade of reflux and presence of scarring was seen. Hypertension was diagnosed only in one child (0.8%) who required antihypertensive treatment. The prevalence of unilateral undescended testicle in children aged <1 year in the 82 male patients was 4.9%. Seventy-six patients (59.4%) developed compensatory hypertrophy in the contralateral kidney during a 1 year follow-up period. Of the total, only seven children (5.5%) had undergone nephrectomy. CONCLUSIONS: MCDK follows a benign course with relatively few sequelae, and therefore these patients should be closely followed up and conservatively managed.

Trajectory of Estimated Glomerular Filtration Rate Predicts Renal Injury in Children with Multicystic Dysplastic Kidney.

BACKGROUND/AIMS: Children with a solitary functioning kidney have a risk of renal injury caused by hyperfiltration. Timely intervention with renin-angiotensin inhibitors may be beneficial. We examined whether trajectory of estimated glomerular filtration rate (eGFR) would predict renal injury, defined as microalbuminuria/proteinuria, hypertension, and/or a decline in eGFR. METHODS: Seventeen patients (male 7, female 10) with multicystic dysplastic kidney (MCDK; median age 13 years, range 6-19 years) followed in our clinic were examined retrospectively. An eGFR decline was defined as a fall to < 90 mL/min/1.73 m2 or a decline of > 5 mL/min/1.73 m2/year for those with baseline eGFR of ≥90 or < 90 mL/min/1.73 m2 respectively. RESULTS: Nine patients had renal injury at the time of investigation. Compared with 8 patients without renal injury, those with renal injury tended to be older (14.7 ± 4.2 vs. 11.4 ± 4.6 years) and the birth weight was smaller (2,538 ± 281 vs. 2,966 ± 361 g, p < 0.05). The frequency of contralateral congenital anomaly of kidney and urinary tract (cyst, hydronephrosis, or vesicoureteral reflux) were not different. The trajectory of eGFR in those without renal injury was either an increase (n = 3) or unidentifiable (n = 5), whereas that in the renal injury group was exclusively an increase followed by decline (p < 0.05). The average age of the onset of eGFR decline was 9.4 ± 4.2 years and that of the start of renal injury (albuminuria/proteinuria 5, eGFR decline 4, hypertension 1) was 12.5 ± 4.2 years. CONCLUSION: All the children with MCDK who developed renal injury had eGFR trajectory of increase followed by decline. Renal injury followed the peak eGFR by 3 years on average. This observation is in agreement with the hyperfiltration theory and underscores the importance of following eGFR trajectory closely.

[Upper urinary tract tumor and hydronephrosis to pelviureteric junction obstruction: a rare association]. / Tumeur de la voie excrétrice supérieure et hydronéphrose due à un syndrome de la jonction pyélo-urétérale: une association rare.

The association between tumor of the urinary tract and hydronephrosis caused by a syndrome of the pyelo-ureteral junction is rare. Indeed, tumors of the upper urinary tract and hydronephrosis have generally a cause-effect relationship. This last is due, more often, to an obstruction caused by a tumor of the ureter or of the pyelo-ureteral junction. We report the case of a 66-year old patient with a history of smoking and right pyelonephritis, presenting with right lumbar pain intermittently evolving over several months without haematuria. Ultrasound showed a dilation of the pyelocaliceal cavities with major reduction of the corticomedullary index of the right kidney. Uroscan was in favor of cystic dysplasia of the right kidney as well as of right hydronephrosis associated with syndrome of pyelo-ureteral junction with budding intrarenal images leading to the suspicion of pyelic tumor. The assessment was completed by urinary cytology which was positive. Right laparoscopic nephroureterectomy was performed and pathologic examination confirmed the diagnosis of urothelial carcinoma of the upper urinary tract.

Is it Always Necessary to Treat an Asymptomatic Hydronephrosis Due to Ureteropelvic Junction Obstruction?

The postnatal treatment of asymptomatic unilateral hydronephrosis due to ureteropelvic junction obstruction remains controversial, and the timing of and indications for surgical intervention are continuously debated. There is no consensus on the best follow-up during expectant management. The various modalities and parameters have been discussed along with their pros and cons and an attempt has been made to clear up the controversies.

Laser Endopyelotomy in the Management of Pelviureteric Junction Obstruction in Adults: A Systematic Review of the Literature.

Laser endopyelotomy (LEP) is considered as an option for the treatment of pelviureteric junction obstruction in adults. A comprehensive systematic search of the published literature was performed to assess the success rate and perioperative complications of LEP in the treatment of primary and secondary pelviureteric junction obstruction and to identify the factors that may have an impact on the success of LEP. The evidence available has significant limitations in terms of the heterogeneous study design and the definitions of outcomes. The average overall success rate of the pooled data was 75% with a mean follow-up of 29 months. Complications were predominately minor with an average rate of 12.5%.

Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children.

AIMS: To evaluate the usefulness of the cyst-to-kidney volume ratio determined by ultrasonography (US) in unilateral multicystic dysplastic kidney (MCDK) in children. MATERIAL AND METHODS: Our study group included 21 children (average age: 431 days) with unilateral MCDK and 22 children (average age: 440 days) with unilateral grade IV hydronephrosis due to ureteropelvic junction obstruction as the control group. All the children underwent transabdominal US. In children with MCDK, we calculated cyst-to-kidney volume ratios (volume of the largest cyst/volume of the MCDK) and in the control group the volume ratios of the renal pelvis and the largest calyx (volume of the pelvis or largest calyx/volume of the ipsilateral hydronephrotic kidney). Ellipsoid formula was used to calculate kidney and pelvis volumes. Sphere volume formula was used to calculate the largest cyst and calyx volumes. RESULTS: The mean cyst-to-kidney volume ratio (0.38±0.21) was significantly higher than the mean volume ratios of the renal pelvises (0.10±0.05) and the largest calyces (0.04±0.02) (p<0.05). There was no significant correlation between cyst-to-kidney volume ratio and the ages of the children (r=0.141, p=0.541). CONCLUSIONS:  With the aid of both the qualitative sonographic criteria and the newer data that we have proposed, US is a useful tool in the initial diagnosis of MCDK and for differentiation of MCDKs from grade IV hydronephrotic kidneys in children. The cyst-tokidney volume ratio is independent of age and thus, it can be helpful in the diagnosis of unilateral MCDK at any age.

Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.

OBJECTIVES: To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. SUBJECTS AND METHODS: Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the 21-item self-report Depression, Anxiety and Stress Scales questionnaire. Qualitative data were analysed thematically using NVivo10 software. RESULTS: In all, 17 parents (PUV, eight; MCDK, nine) participated (response rate 40%), and most were offered counselling during pregnancy (14/17). Parents described feelings of shock, fear and uncertainty after diagnosis, and desired early information on all aspects of their child's condition. Most participants were satisfied with the information received; however, unmet information needs relating to treatment and prognosis were identified, particularly amongst fathers and parents in the PUV group. Some parents felt relieved after counselling (12/17); however, emotional distress often persisted long after diagnosis. Parents described a need for written and web-based information resources, specialised psychological services, and parent support groups. CONCLUSION: While parents valued counselling, many continued to report unmet informational and psychological needs. Early counselling addressing topics important to parents and provision of additional resources and support services may improve parents' adjustment to their baby's diagnosis.

Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.

BACKGROUND: Women with fetal multicystic dysplastic kidneys (MCDK) are commonly referred for genetic counseling, for which identification of the correct etiology is a prerequisite. METHODS: A total of 72 women with fetal MCDK at Guangzhou Women and Children's Medical Center were examined via invasive prenatal diagnosis from May 2010 to June 2015. Standard karyotyping analysis was provided to all fetuses, and chromosomal microarray with Affymetrix CytoSan HD arrays was offered to cases whose DNA samples were available. RESULTS: Abnormal karyotypes were detected in 3 of 72 (4.17%) fetuses. Of the 69 (95.8%, 69/72) fetuses with normal karyotypes, 30 (42%, 30/69) underwent chromosome microarray analysis (CMA) testing. The CMA identified pathogenic copy number variations in five fetuses, leading to a pathogenic detection rate of 16.7% (5/30). Well-known microdeletion or microduplication syndromes including renal cysts and diabetes (RCAD) syndrome and Williams-Beuren syndrome (WBS) were identified in three cases. Moreover, four chromosomal imbalanced regions were also identified in our MCDK fetuses: 22q11.1 duplication, 4q35.2 deletion, 22q13.33 duplication and 1p33 duplication. Genes PEX26, ELN, HNF1B, ALG12, FRG1, FRG2 and CYP4A11 were possible candidates for fetal MCDK. The proportions of variants of unknown significance before and after parental analysis were 13.3% (4/30) and 3.3% (1/30), respectively. CONCLUSIONS: In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations. CMA was able to increase the pathogenic detection rate to 16.7% in MCDK fetuses with normal karyotype. Critical regions for RCAD syndrome, WBS and copy number variants of 22q11.1 duplication, 4q35.2 deletion, 22q13.33 duplication and 1p33 duplication were associated with fetal MCDK. Genes PEX26, ELN, HNF1B, ALG12, FRG1, FRG2 and CYP4A11 were possible candidates for fetal MCDK.

Robotic-assisted Laparoscopic Pyeloplasty: Analysis of Symptomatic Patients With Equivocal Renal Scans.

OBJECTIVES: To review the objective and subjective success rates of robotic-assisted laparoscopic pyeloplasty in symptomatic patients with radiographic findings suggestive of uretero-pelvic junction obstruction (UPJO), but equivocal renal scans (diuretic T1/2 <20 minutes). METHODS: We reviewed 77 patients with symptomatic UPJO, who underwent robotic-assisted laparoscopic pyeloplasty between August 2006 and March 2013. We grouped patients by renal scan findings into 1 of 2 groups, obstructed (diuretic T1/2 ≥20 minutes) or equivocal (diuretic T1/2 <20 minutes). All patients were symptomatic and had radiographic findings suggestive of UPJO (eg hydronephrosis). RESULTS: Mean age was 40.7 years (range 17-80) with 70% female. UPJO occurred 44% left and 56% right, with 92% presenting with flank pain. Of 77 patients, 45 had obstruction on renal scan, with 41 (91%) having resolution of obstruction postoperatively and 44 of 45 (98%) having complete resolution of their initial symptoms. Thirty-two patients had equivocal findings with mean diuretic T1/2 of 12.6 minutes (range: 5.5-19.26) on renal scan. In this latter group, patients had significantly less of a decrease in their diuretic T1/2 postoperatively (4 vs 64 minutes, P = .018) and reported less pain resolution (53% vs 98%, P ≤.001) than group 1. CONCLUSION: Many studies have demonstrated excellent success of pyeloplasty, with most series including patients meeting strict diagnostic criteria for obstruction. Our study examines outcomes in patients with clinically symptomatic UPJO and equivocal diuretic renography. In our cohort, equivocal patients were significantly less likely to have subjective resolution of symptoms than patients in the obstructed group.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

OBJECTIVE: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. CONCLUSION: Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.