A case of esophageal atresia with tracheoesophageal fistula, imperforate anus, persistent cloaca, incomplete fusion of the labium and chronic renal failure due to urethral obstruction

Henmi, Nobuhide; Okubo, Soichiro; Kasahara, Takayuki; Okugawa, Takayoshi; Yamazaki, Hisashi; Harada, Waka; Uchiyama, Makoto

doi:10.1046/j.1442-200x.2000.01283.x

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…Axial mesodermal dysplasia spectrum (AMDS) is thought to arise as a consequence of aberrant mesodermal migration during early development, resulting in bronchial, pulmonary, cardiovascular, gastrointestinal, renal, urogenital and skeletal abnormalities (Russell et al 1981). Both cloacal malformation and VATER association are likely to be associated with AMDS, as they are among the continuous spectrum of AMDS anomalies (Henmi et al 2000). Consistent with this hypothesis, Liu and Hutson (2000) showed in an adriamycin-induced rat model of cloacal and urogenital anomalies, similarities to VATER association.…”

Section: Discussionsupporting

confidence: 55%

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Mori

Matsubara

Abe

et al. 2007

Tohoku J. Exp. Med.

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The cloaca is a single canal from which the urinary, genital, and intestinal tracts arise around gestational weeks 5-6. Persistent cloaca can result from cystic mass formation within the pelvis, which is commonly association with multiple developmental defects. VATER association, which is a spectrum of anomalies, manifested by vertebral defects, anal atresia, tracheo-esophageal fi stula with esophageal atresia, and renal dysplasia, arises from abnormalities in mesodermal differentiation. Recently, both conditions have been proposed to represent a continuous spectrum of anomalies, but the pathophysiology concerning the continuity of the development and the clinical condition are still unclear. Since renal failure becomes a serious problem after birth, timely infant delivery is essential to avoid loss of renal function. We report a patient, in whom the overlap between these two conditions was identifi ed, and renal function was lost from one kidney. A polycystic mass was found in the fetal abdomen at 26 weeks of gestation. By ultrasonography, we detected a polycystic left kidney, a single umbilical artery, a ventricular septal defect, an esophageal atresia, ascites, an anal atresia, and a cystic mass with debris behind the bladder. The left kidney was non-functioning and the right kidney showed signs of hydronephrosis at 30 weeks of gestation. We measured the size and the blood fl ow of renal artery sequentially, and could deliver the fetus before the function was lost from the right kidney. Our observations will help inform future patients where prompt intervention can help improve renal function and infant health.

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Section: Discussionsupporting

confidence: 55%

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Mori

Matsubara

Abe

et al. 2007

Tohoku J. Exp. Med.

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“…There have been few reports of renal disease associated with congenital esophageal atresia. Patients displaying the VATER association, which includes vertebral defects, anal atresia, trachea-esophageal fistula with esophageal atresia, and radial and renal dysplasia, often develop chronic renal failure [ 12 ], and congenital nephrotic syndrome [ 13 ]. Renal abnormality with 17q12 duplication have also been reported in patients with esophageal atresia [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review

et al. 2017

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BackgroundFibronectin glomerulopathy is a rare, inherited, autosomal dominant, glomerular disease characterized by proteinuria, microscopic hematuria, hypertension, massive glomerular deposits of fibronectin, and slow progression to end-stage renal failure. Because the incident of fibronectin glomerulopathy is extremely low, the pathophysiology, genetic abnormalities, epidemiology, and mechanisms remain to be elucidated.Case presentationWe report a 21-year-old woman with fibronectin glomerulopathy, who had been diagnosed with persistent cloaca and congenital esophageal atresia at birth. She developed proteinuria and hematuria 7 months before admission. Urinary protein and serum creatinine levels were 3.38 g/gCr and 0.73 mg/dL. Renal biopsy showed severe mesangial widening due to massive deposits, which was positive periodic acid-Schiff and negative methenamine silver. Immunostaining was negative for immunoglobulin but positive for fibronectin. Electron microscopy showed diffuse mesangial granular deposits. Thus she was diagnosed with fibronectin glomerulopathy, despite a negative family history of kidney disease and lack of any known missense mutations of fibronectin 1 gene.ConclusionWe report a patient who developed fibronectin glomerulopathy during the clinical course of extremely rare congenital malformations, including persistent cloaca and congenital esophageal atresia. We describe a case of this condition in detail and summarize the 75 case reports of fibronectin glomerulopathy.

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“…Although, Escobar et al [7] and Wheeler et al [24] consider URSMS distinct from the VATER association, several patients with typical URSMS characteristics have been reported as VATER association in the literature [1,11,12,21] raising the question whether URSMS belongs to the VATER association or whether it is a distinct entity.…”

Section: Discussionmentioning

confidence: 99%

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

et al. 2005

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Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.

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A case of esophageal atresia with tracheoesophageal fistula, imperforate anus, persistent cloaca, incomplete fusion of the labium and chronic renal failure due to urethral obstruction

Cited by 3 publications

References 12 publications

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

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