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Renal hypodysplasia/aplasia

Renal aplasia is the most 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. Occasionally malformations also occur in other urogenital organs.

Clinical Findings

The clinical spectrum includes bilateral aplasia, unilateral aplasia with contralateral hypodysplasia, and severe congenital urinary tract obstructions. Death occurs early, sometimes even prenatally.

Symptoms

Malformations of the urinary tract
Malformations in renal aplasia are severe and life threatening.
Oligohydramnios
Renal dysfunction becomes apparent as oligohydramnios already, sometimes even prenatal death is observed.

Systematic

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
CHD1L
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

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.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

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29.

OMIM.ORG article

Omim 191830 external link
30.

Wikipedia article

Wikipedia EN (Renal_agenesis) external link
Update: Aug. 14, 2020
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