SCIENTIFIC BACKGROUND

ANOS1, BMP4, CDC5L, DSTYK, FGF20, FRAS1, FREM1, FREM2, GREM1, HNF1B, ITGA8, PAX2, RET, SALL1, SIX2, TRAP1, UPK3A, WNT4

Category:

Renal agenesis, in which the kidneys are completely or partially missing, and renal hypoplasia, in which the kidneys are underdeveloped, are rare diseases. While bilateral renal agenesis, in which both kidneys are missing, occurs with a frequency of 1 in 10,000 births and is usually incompatible with life, unilateral renal agenesis is often discovered by chance as it can be clinically inconspicuous.

 

The distinction between renal hypoplasia, in which the number of nephrons is reduced, and renal dysplasia, in which the kidney tissue is disorganized, is usually made histologically. One possible cause may be pathogenic variants in various genes that play an important role in nephrogenesis.

GENES

ANOS1, BMP4, CDC5L, DSTYK, FGF20, FRAS1, FREM1, FREM2, GREM1, HNF1B, ITGA8, PAX2, RET, SALL1, SIX2, TRAP1, UPK3A, WNT4

ASSOCIATED TESTS

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