Caudal Regression Syndrome: The Urologic Implications

Rubenstein, Marc A.; Bucy, James G.

doi:10.1016/s0022-5347(17)67178-7

Cited by 18 publications

(2 citation statements)

References 11 publications

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“…10 In many cases, the renal malformation is not an isolated anomaly, but occurs as part of a multiorgan congenital syndrome. For instance, renal agenesis and other renal malformations can occur in the context of the caudal regression syndrome, [11][12][13] which is defined by a characteristic pattern of malformations including agenesis of the lower vertebral column, imperforate anus, and caudal spinal cord malformations that often appear as a terminal myelomeningocele. 12,14 -16 However, the reason for, and the mechanism of, this particular association are unclear.…”

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confidence: 99%

Implication of Wt1 in the Pathogenesis of Nephrogenic Failure in a Mouse Model of Retinoic Acid-Induced Caudal Regression Syndrome

Tse¹,

Leung²,

Woolf³

et al. 2005

The American Journal of Pathology

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Renal malformations are common human birth defects that sometimes occur in the context of the caudal regression syndrome. Here, we found that exposure of pregnant mice to all-trans retinoic acid, at a time when the metanephros has yet to form, causes a failure of kidney development along with caudal regression. Maternal treatment with Am580 (retinoic acid receptor alpha agonist) also induced similar patterns of kidney maldevelopment in the fetus. In metanephroi from retinoic acid-treated pregnancies, renal mesenchyme condensed around the ureteric bud but then failed to differentiate into nephrons, instead undergoing involution by fulminant apoptosis to produce a renal agenesis phenotype. Results of whole organ cultures in serum-free medium, and also tissue recombination experiments, showed that the nephrogenic defect was intrinsic to the kidney and that it resided in the metanephric mesenchyme and not the ureteric bud. Renal mesenchyme from control embryos expressed Wilms' tumor 1 (Wt1), but this transcription factor, which is indispensable for kidney development, failed to express in metanephroi of retinoic acid-exposed embryos. Wt1 expression and organogenesis were both restored, however, when metanephroi from retinoic acid-treated pregnancies were grown in serum-containing media. Our data illuminate the pathobiology of a severe, teratogen-induced kidney malformation.

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confidence: 99%

Implication of Wt1 in the Pathogenesis of Nephrogenic Failure in a Mouse Model of Retinoic Acid-Induced Caudal Regression Syndrome

Tse¹,

Leung²,

Woolf³

et al. 2005

The American Journal of Pathology

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“…Eighty-two were selected for one feature or another (Frantz & Aitken ' For example, the cases make it clear that if maternal diabetes and sacral abnormalities are associated, the association is predominantly with symmetrical absence of sacral vertebral elements (with or without absence of more rostra1 vertebrae). , Perry et al 1970, Rubenstein & Bucy 1975, Phillips et al 1982, Borrelli et al 1985 and are not further considered. (Citations and tabulated details concerning the remainder are obtainable from the author.)…”

Section: Retrospective Surveys Of Sacral Dysplasiamentioning

confidence: 99%