Billateral Polycystic Kidneys in a Girl with WAGR Syndrome

Gucev, Zoran; Muratovska, O; Laban, Nevenka; Misevska, Lence; Jancevska, Aleksandra; Crolla, John A.; Tasić, Velibor

doi:10.1007/s12098-011-0457-2

Cited by 7 publications

(4 citation statements)

References 7 publications

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“…WAGR syndrome includes WT, genitourinary anomalies, aniridia, and intellectual disability. WT developed in the right kidney, and the child was treated with nephrectomy followed by chemotherapy ( 13 ). In our clinical case, the girl also has dysmorphic facial features but was not diagnosed with any additional genetic syndrome during exome testing.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

Zina,

Rosita,

Kristina

et al. 2024

Front. Pediatr.

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BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is rare but one of the most common inherited kidney diseases. Normal kidney function is maintained until adulthood in most patients. About 7 in 10 patients with ADPKD develop kidney failure in the latter half of their fifth decade of life. Wilms' tumor, or nephroblastoma, is the most common malignant tumor stemming from kidney cells in the pediatric age group. This type of tumor is the most frequently occurring kidney malignancy in children between the ages of 0 and 5 years. The exact cause of Wilms' tumor is unknown, though about 10% of cases have a genetic predisposition. Wilms' tumor is one of the most successfully treated childhood oncological diseases. Overall, the 5-year survival rates were approximately 90% in both the National Wilms Tumor Study (NWTS) and Paediatric Oncology SIOP studies, showing similar results.Case presentationWe report a case of a girl diagnosed with autosomal polycystic kidney disease, who subsequently developed Wilms' tumor and underwent successful treatment with chemotherapy. Polycystic kidney disease was suspected in the fetus during prenatal ultrasound and confirmed after birth with ultrasound and genetic testing. The Wilms tumor was an accidental finding during abdominal MRI at the age of 2 years old to rule out liver pathology.ConclusionReports on whether a diagnosis of ADPKD is a risk factor for malignancy are conflicting. In this particular case, Wilms' tumor is present in the background of polycystic kidney disease and was timely diagnosed by an incidental MRI.

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Section: Discussionmentioning

confidence: 99%

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

Zina,

Rosita,

Kristina

et al. 2024

Front. Pediatr.

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“…Gucev et al . 24 reported an 8.5-year-old patient with WAGR syndrome, which includes Wilms tumor, and bilateral PKD. Zina et al .…”

Section: Discussionmentioning

confidence: 99%

Glioneuronal tumor in an autosomal-dominant polycystic kidney disease patient: A case report and literature review

Qupp,

Zeidan,

Nimer

2024

Annals of Medicine &Amp; Surgery

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Introduction: The association between primary brain tumors, such as glioneuronal tumors, with autosomal-dominant polycystic kidney disease (ADPKD) remains poorly understood, with only two cases reported excluding this one. This case of an ADPKD patient diagnosed with a rosette-forming glioneuronal tumor highlights an exceptionally rare potential association warranting further investigation. Case Presentation: A 28-year-old male with ADPKD presented with progressive ataxia, dizziness, and headache. MRI revealed a cerebellar mass and obstructive hydrocephalus. Surgical resection and histopathological examination confirmed the diagnosis of a rosette-forming glioneuronal tumor (RGNT). Postoperatively, the patient showed significant symptom improvement. Discussion: The interplay between genetics and glioneuronal development is complex and underexplored. While most glioneuronal arise sporadically, rare genetic syndromes may predispose individuals to these tumors. Additionally, although more than 70 cases of ADPKD with concurrent tumors were reported, the literature on this specific association remains limited. Conclusion: This case underscores the need for heightened awareness of potential associations between ADPKD and tumors such as glioneuronal tumors. With limited literature on this subject, further research is imperative to understand the underlying mechanisms and clinical implications. Enhancing our knowledge in this area can improve patient outcomes and management strategies.

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“…On the other hand, despite not being a recurrent observation in patients with 11p deletion, polycystic kidneys were identified in patients P4 and P10, also diagnosed with Wilms' tumor. Gucev et al [2011] reported a case of WAGR syndrome with bilateral polycystic kidney. The presence of multiple renal cysts can be attributed to several genes such as PAX2, PKD1, PKD2, and HNF1B [Eneman et al, 2014], none of which is mapped in the short arm of chromosome 11.…”

Section: Other Nonclassical Phenotypes Observed In 11p Deletionsmentioning

confidence: 99%

Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review

et al. 2022

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WAGR syndrome (Wilms' tumor, aniridia, genitourinary changes, and intellectual disability) is a contiguous gene deletion syndrome characterized by the joint deletion of PAX6 and WT1 genes, located in the short arm of chromosome 11. However, most deletions include other genes, leading to multiple associated phenotypes. Therefore, understanding how genes deleted together can contribute to other clinical phenotypes is still considered a challenge. In order to establish genotype-phenotype correlation in patients with interstitial deletions of the short arm of chromosome 11, we selected 17 patients with deletions identified by chromosomal microarray analysis: 4 new subjects and 13 subjects previously described in the literature with detailed clinical data. Through the analysis of deleted regions and the phenotypic changes, it was possible to suggest the contribution of specific genes to several nonclassical phenotypes, contributing to the accuracy of clinical characterization of the syndrome and emphasizing the broad phenotypic spectrum found in the patients. This study reports the first patient with a PAX6 partial deletion who does not present any eye anomaly thus opening a new set of questions about the functional activity of PAX6.

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Billateral Polycystic Kidneys in a Girl with WAGR Syndrome

Cited by 7 publications

References 7 publications

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

Glioneuronal tumor in an autosomal-dominant polycystic kidney disease patient: A case report and literature review

Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review

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