Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review

Houat, Abdallah de Paula; Guimarães, Cassia T. S.; Takahashi, Marcelo S.; Rodi, Gustavo P.; Gasparetto, Taísa P. D.; Blasbalg, Roberto; Velloni, Fernanda

doi:10.1148/rg.2021219009

Cited by 7 publications

(14 citation statements)

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“…[16,17] There are many mechanisms leading to congenital urinary system abnormalities, among which chromosome abnormality and gene mutation are the most important causes. [18] Some BOR pathogenic genes, including EYA1 (8q13.3), SIX1 (14q23.1), and SIX5 (19q13.32) have been identified. [6,19,20] Among them, EYA1 is the first identified and the most common pathogenic gene that causes BOR.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Tang

et al. 2022

Medicine

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Background: Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant, EYA1: NM_000503.4: c.827-1G > C (Intron 8, shear mutation) was associated with BOR in a fetus of a Chinese family.Case presentation: Prenatal ultrasound examination showed that both kidneys of the fetus were small and the echo of both kidneys was enhanced. The amount of amniotic fluid was normal, and no other structural abnormalities of the fetus were found. Fetal umbilical cord blood puncture was performed. No abnormality was found in karyotyping and chromosomal microarray analysis (CMA) results. Thus, we performed a trio-based whole exome sequencing (WES), and found that the fetus carried a novel homozygous variant, EYA1: NM_000503.4: c.827-1G > C (Intron 8, shear mutation), but the parents do not have this mutation. The variation sites of fetus and parents were verified by Sanger sequencing to clarify the source of pathogenic variation. Conclusion:Combined with fetal imaging examination, the novel variation of EYA1: NM_000503.4: c.827-1G > C is the cause of fetal renal dysplasia. This case report indicates that the early use of appropriate technology can clarify the etiology of fetal disease and guide prognosis consultation.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Tang

et al. 2022

Medicine

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“…36 The presence of persistent dilatation should be regarded as abnormal. 36,37 It is possible to categorize the megaureter into primary and secondary types. The term primary megaureter (pMU) refers to all cases of megaureter that occur due to an idiopathic congenital abnormality at the vesicoureteral junction.…”

Section: Megauretermentioning

confidence: 99%

“…In a secondary megaureter, the ureteral dilatation is caused by other abnormalities such as a neurogenic bladder, posterior urethral valve (PUV), or ureteral calculus. [36][37][38] In newborns, pMUs are the second most common cause of obstructive hydronephrosis. Males are more likely than females to be affected by this condition (M/F = 2/1), and it is estimated that 25% of all cases are bilateral.…”

Section: Megauretermentioning

confidence: 99%

“…Furthermore, the ureter is generally in close contact with the spine, while the small bowel is not. 27,37 In MR imaging, dilatation of the ureter may be observed along with or without dilation of the pelvis and the calyces. Due to the presence of meconium, distal bowel loops are viewed as high-signal tubular structures on T1-weighted images, while dilated ureters are viewed as low-signal tubular structures on the same image (Figure 3).…”

Section: Megauretermentioning

confidence: 99%

“…Smaller masses tend to have more solid hyperechoic characteristics and should be differentiated from extralobar sequestration or perirenal fat. 37 A suprarenal mass with hepatomegaly is highly suggestive of neuroblastoma (Figure 8). Neuroblastomas overall have favorable outcomes and many of them regress spontaneously after birth without further need for aggressive interventional treatment.…”

Section: Autosomal Recessive Polycystic Kidney Disease (Formerly Pott...mentioning

confidence: 99%

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Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay

Moradi,

Golezar,

Mortazavi Ardestani

et al. 2024

Congenital Anomalies

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This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%–50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other associated anomalies. The prognosis highly depends on their type and whether they are associated with other fetal abnormalities.

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Urinary incontinence in a male dog with an ectopic ureterocoele remnant associated with ipsilateral renal agenesis and cryptorchidism

Economu,

McGregor,

Constantino‐Casas

et al. 2024

Vet Record Case Reports

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A 2‐year‐old, male, neutered labrador retriever with a previous diagnosis of left renal agenesis and left cryptorchidism presented for investigation of mild intermittent urinary incontinence. Abdominal ultrasound, intravenous urography and retrograde positive‐contrast urethrocystography were performed, identifying an unusual fluid‐filled structure, confluent with the left side of the prostate gland. Histopathological diagnosis, following surgical excision, was an ectopic ureterocoele remnant. Urinary incontinence temporarily improved following surgery, but subsequently recurred. A presumptive diagnosis of urethral sphincter mechanism incompetence, in addition to the ectopic ureterocoele remnant was given. Dogs with renal agenesis typically have an absent ipsilateral ureter; however, this report demonstrates an ipsilateral ectopic ureterocoele remnant, a condition rarely reported in veterinary medicine. Multiple ipsilateral genitourinary deformities should be suspected and investigated in animals presenting with any urogenital developmental abnormality. Clinical significance of ectopic ureterocoele remnant in male dogs with urinary incontinence should however be carefully evaluated, and other causes (e.g., urethral sphincter mechanism incompetence) should be considered.

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Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review

Cited by 7 publications

References 0 publications

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay

Urinary incontinence in a male dog with an ectopic ureterocoele remnant associated with ipsilateral renal agenesis and cryptorchidism

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