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Kidney Int. 2001 Feb;59(2):457-62.

PAX2 mutations in oligomeganephronia.

Author information

1
Pediatric Nephrologic Department, Necker-Enfants Malades Hospital, Paris, France. salomon@necker.fr

Abstract

BACKGROUND:

Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown. The paired box transcription factor PAX2 plays a fundamental role in renal development. Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome.

METHODS:

To assess whether OMN could be related to PAX2, we searched for PAX2 mutations in nine patients presenting with sporadic and apparently isolated OMN.

RESULTS:

Heterozygous PAX2 mutations were found in three patients. A limited optic nerve coloboma was secondarily detected in two cases and a very mild optic disk dysplasia in one patient. None of these patients had visual impairment.

CONCLUSIONS:

Ocular anomaly and PAX2 mutations should be sought in all patients with OMN.

[Indexed for MEDLINE]
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