Vesicoureteral Reflux and Ureteropelvic Junction Obstruction in Children With Horseshoe Kidney: Treatment and Outcome

Cascio, Salvatore; Sweeney, Brian; Granata, Claudio; Piaggio, Giorgio; Jasonni, Vincenzo; Puri, Prem

doi:10.1016/s0022-5347(05)65038-0

Cited by 65 publications

(35 citation statements)

References 8 publications

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“…It is less likely that the horseshoe kidney was the primary cause of her FSGS. Horseshoe kidneys can lead to vesicoureteral reflux, a known association with FSGS, but reflux was not observed in this patient[12, 13]. An independent association between horseshoe kidneys and FSGS has not yet been found, as there have only been a few case reports presenting these two conditions together[14, 15].…”

Section: Discussionmentioning

confidence: 83%

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

et al. 2016

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Genetic testing in the clinic and research lab is becoming more routinely used to identify rare genetic variants. However, attributing these rare variants as the cause of disease in an individual patient remains challenging. Here, we report a patient who presented with nephrotic syndrome and focal segmental glomerulosclerosis (FSGS) with collapsing features at age 14. Despite treatment, her kidney disease progressed to end-stage within a year of diagnosis. Through genetic testing, an Y265H variant with unknown clinical significance in alpha-actinin-4 gene (ACTN4) was identified. This variant has not been seen previously in FSGS patients nor is it present in genetic databases. Her clinical presentation is different from previous descriptions of ACTN4 mediated FSGS, which is characterized by sub-nephrotic proteinuria and slow progression to end stage kidney disease. We performed in vitro and cellular assays to characterize this novel ACTN4 variant before attributing causation. We found that ACTN4 with either Y265H or K255E (a known disease-causing mutation) increased the actin bundling activity of ACTN4 in vitro, was associated with the formation of intracellular aggregates, and increased podocyte contractile force. Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient. Our studies highlight that functional validation in complement with genetic testing may be required to confirm the etiology of rare disease, especially in the setting of unusual clinical presentations.

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Section: Discussionmentioning

confidence: 83%

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

et al. 2016

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“…The normal kidneys ascend from the pelvis during the 7 th –8 th week of life with rotation taking place around the same time, so that the renal pelvis turns from anterior to medial aspect. [356] As the horseshoe kidney ascends, the isthmus is trapped under the inferior mesenteric artery (IMA), arresting further ascent and rotation, resulting in lower location of the kidneys with anteriorly facing pelvis. [7] This explains the ectopia as well as malrotation components of horseshoe kidney.…”

Section: Embryology Of Horseshoe Kidneymentioning

confidence: 99%

“…[8] The other theory proposes that development of horseshoe kidney results from abnormal migration of posterior nephrogenic cells resulting in the formation of parenchymal isthmus. [356] This theory explains the greater than normal risk of carcinogenesis in horseshoe kidney including increased risk of development of carcinoid and Wilms tumor. [6]…”

Section: Embryology Of Horseshoe Kidneymentioning

confidence: 99%

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Multimodality imaging spectrum of complications of horseshoe kidney

Shah

Ojili

2017

Indian Journal of Radiology and Imaging

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Horseshoe kidney is the most common congenital renal fusion anomaly with an incidence of 1 in 400–600 individuals. The most common type is fusion at the lower poles seen in greater than 90% of the cases, with the rest depicting fusion at the upper poles, resulting in an inverted horseshoe kidney. Embryologically, there are two theories hypothesizing the genesis of horseshoe kidney – mechanical fusion theory and teratogenic event theory. As an entity, horseshoe kidney is an association of two anatomic anomalies, namely, ectopia and malrotation. It is also associated with other anomalies including vascular, calyceal, and ureteral anomalies. Horseshoe kidney is prone to a number of complications due to its abnormal position as well as due to associated vascular and ureteral anomalies. Complications associated with horseshoe kidney include pelviureteric junction obstruction, renal stones, infection, tumors, and trauma. It can also be associated with abnormalities of cardiovascular, central nervous, musculoskeletal and genitourinary systems, as well as chromosomal abnormalities. Conventional imaging modalities (plain films, intravenous urogram) as well as advanced cross-sectional imaging modalities (ultrasound, computed tomography, and magnetic resonance imaging) play an important role in the evaluation of horseshoe kidney. This article briefly describes the embryology and anatomy of the horseshoe kidney, enumerates appropriate imaging modalities used for its evaluation, and reviews cross-sectional imaging features of associated complications.

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“…While a third of patients are asymptomatic, renal calculi and ureteropelvic junction obstruction are common, leading to hydronephrosis. 5,6 In addition, a twofold risk of Wilms tumour has been described. 7 The association of renal tumours within a horseshoe kidney is extremely rare, with only 200 reported cases.…”

Section: Introductionmentioning

confidence: 99%

Laparoscopic partial nephrectomy for renal cell carcinoma in a horseshoe kidney

Benidir

Castilho²,

Cherubini³

et al. 2014

CUAJ

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Cite as: Can Urol Assoc J 2014;8(11-12):e918-20. http://dx.doi.org/10.5489/cuaj.2289 Published online December 15, 2014. AbstractHorseshoe kidney has an incidence rate ranging from 1 in 400 to 1 in 1000, with a 2:1 ratio in men. It also has a predilection for chromosomal aneuploidies. From a pathophysiology standpoint, this anomaly occurs during the second to sixth week of gestation when the inferior portion of the metanephric blastema fuses to form an isthmus, commonly in the lower renal pole (90%). As a result of this fusion, the kidney may not bypass the inferior mesenteric artery and is impeded in its ascent. With an aberrant anatomical orientation and location, complications arise including hydronephrosis, renal calculi and a twofold risk of Wilms tumour. Despite these findings, the association of renal cell carcinoma (RCC) within a horseshoe kidney is extremely rare and fewer than 200 cases have been described. Therapeutically speaking, partial nephrectomies are the gold standard of treatment for renal tumours smaller than 4 cm in diameter, with a growing indication to accomplish this procedure by laparoscopic or robotic means. We report a case of an asymptomatic 58-year-old male with an incidental computed tomography scan finding of a 4-cm solid mass in the right moiety of a horseshoe kidney. He was treated by laparoscopic partial nephrectomy. There have only been 2 other reported cases to our knowledge on a laparoscopic partial nephrectomy in a horseshoe kidney for RCC. We believe that, in experienced hands, the laparoscopic approach may be used successfully for this clinical situation.

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Vesicoureteral Reflux and Ureteropelvic Junction Obstruction in Children With Horseshoe Kidney: Treatment and Outcome

Abstract: More than half of the patients with a clinically symptomatic horseshoe kidney have vesicoureteral reflux or ureteropelvic junction obstruction. Many patients with horseshoe kidney require surgical intervention for associated urological anomalies with good results.

Cited by 65 publications

References 8 publications

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Multimodality imaging spectrum of complications of horseshoe kidney

Laparoscopic partial nephrectomy for renal cell carcinoma in a horseshoe kidney

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