Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal hypodysplasia/aplasia 1

Renal aplasia 1 is a severe form of congenital anomalies of the kidney and urinary tract (CAKUT). The spectrum includes bilateral aplasia, unilateral aplasia with contralateral hypodysplasia, and severe congenital urinary tract obstructions. The most forms are lethal perinatally. In the genes responsible two (recessive) or one (dominant) allele can be mutated.

Symptoms

Malformations of the urinary tract
Malformations in renal aplasia type 1 are life threatening.

Systematic

Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2

References:

1.

Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

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2.

Müller U et al. (1997) Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis.

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3.

Schmidt W et al. (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.

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4.

Buchta RM et al. (1973) Familial bilateral renal agenesis and hereditary renal adysplasia.

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5.

Ogata T et al. (2000) Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

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6.

Joss S et al. (2003) De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.

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7.

None (1954) Bilateral agenesis of the kidneys in two consecutive infants.

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8.

BAIN AD et al. (1964) NEWBORN AFTER PROLONGED LEAKAGE OF LIQUOR AMNII.

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9.

DAVIDSON WM et al. (1954) Bilateral absence of the kidneys and related congenital anomalies.

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10.

None (1946) Facial characteristics of infants with bilateral renal agenesis.

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11.

Sanna-Cherchi S et al. (2012) Copy-number disorders are a common cause of congenital kidney malformations.

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12.

Bankier A et al. (1988) Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution.

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13.

Morse RP et al. (1987) Bilateral renal agenesis in three consecutive siblings.

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14.

Bankier A et al. (1985) A pedigree study of perinatally lethal renal disease.

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15.

Wilson RD et al. (1985) Renal agenesis in British Columbia.

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16.

Cain DR et al. (1974) Familial renal agenesis and total dysplasia.

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17.

Carter CO et al. (1979) A family study of renal agenesis.

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18.

Kohn G et al. (1973) The association of bilateral and unilateral renal aplasia in the same family.

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19.

Hack M et al. (1974) Familial aggregation in bilateral renal agenesis.

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20.

Rizza JM et al. (1971) Bilateral renal agenesis in two female siblings.

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21.

Winter JS et al. (1968) A familial syndrome of renal, genital, and middle ear anomalies.

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22.

Yates JR et al. (1984) Concordant monozygotic twins with bilateral renal agenesis.

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23.

Roodhooft AM et al. (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys.

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24.

Monn E et al. (1984) Hereditary renal adysplasia.

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25.

Schinzel A et al. (1978) Bilateral renal agenesis in 2 male sibs born to consanguineous parents.

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26.

Scott RJ et al. (1995) Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence.

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27.

Selig AM et al. (1993) Renal dysplasia, megalocystis, and sirenomelia in four siblings.

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28.

OMIM.ORG article

Omim 191830 [^]
Update: April 29, 2019