Renal agenesis causes
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Overview
Causes
Associated anomalies or genetic syndromes in unilateral renal agenesis and bilateral renal agenesis
Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include:
URA or BRA and Some Genetic Disorders
(Modified table from Ultrasound diagnosis of fetal renal abnormalities) | |
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Syndrome | Gene |
Acro–renal–ocular syndrome | SALL 4 |
Branchio–oto–renal syndrome |
|
Ectrodactyly–ectodermal dysplasia–cleft syndrome | P63 |
Pallistere Hall syndrome | GLI3 |
Renal–coloboma syndrome | PAX2 |
Townes–Brocks syndrome | SALL1 |
Antley–Bixler syndrome | FGFR2 |
Fraser syndrome | FRAS1 |
Smith–Lemli-Opitz syndrome | DHCR7 |
Goltz–Gorlin syndrome | PORCN |
Kallman syndrome | KAL1 |
Lenz microphthalmia | BCOR |
Associated Anomalies in Unilateral Renal Agenesis | |
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Associated CAKUT
(congenital anomalies of the kidney and urinary tract) |
32% |
|
24% |
|
1% |
|
6% |
|
1% |
|
1% |
|
7% |
Urinary tract infection | 30% |
Associated extra-renal anomalies | 31% |
Female tract anomalies | 11% |
Extra-renal Anomalies Associated with URA
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries ) | |
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Type | Extra-renal anomalies |
One system |
|
Sequences |
|
Genetic syndromes |
|
Chromosomal anomalies |
|
Non-identified polymalformative
syndromes |
Macrocephaly, hypertelorism |
Anencephaly, caudal regression | |
Occipital meningoencephalocele, unicornate uterus | |
Heart defect, limb anomaly | |
Tetralogy of Fallot, radial agenesia | |
Patent ductus arteriosus, cerebellum hypoplasia, supernumerary hemivertebra, tracheolaryngomalacia, Meckel’s diverticulum, agenesis of eyelashes | |
Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma | |
Dandy-Walker, VSD | |
Radial agenesia, clubhand, hypoplastic left heart syndrome, transposition of great vessels, agenesis of lung, diaphragmatic hernia, polysplenia | |
Spina bifida, stenosis of anus | |
Vertebral dysplasia, scrotal hypospadias | |
Imperforate anus, ambiguous genitalia |