Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Renal agenesis causes
Introduction
Overview
Overview
Renal agenesis may be associated with CAKUT (congenital anomalies of the kidney and urinary tract) or extra-renal anomalies, genetic syndromes or chromosomal disorders, and sequences.
Causes
Causes
Some associated anomalies, genetic syndromes and teratogenic causes of renal agenesis include:
| Associated Anomalies in Unilateral Renal Agenesis
(Modified table from Unilateral renal agenesis: a systematic review on associated anomalies and renal injury)[1] | ||||
|---|---|---|---|---|
| Associated CAKUT
(congenital anomalies of the kidney and urinary tract) (VUR (vesicoureteral reflux), PUV (posterior urethral valves), PUJO (pelviureteric junction obstruction), duplex kidney, ureterocele, and megaureter) |
32% | |||
| Urinary tract infection | 30% | |||
| Associated extra-renal anomalies | 31% | |||
| Female tract anomalies | 11% | |||
| Extra-renal Anomalies Associated with URA Â
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries)[2] | ||||
|---|---|---|---|---|
| Type  | Extra-Renal Anomalies  | |||
| One effected system/organ |
| |||
| Associated Sequences |
| |||
| Associated Genetic Syndromes |
| |||
| Associated Chromosomal Anomalies | ||||
| Associated Syndromatic Polymalformations (non-identified) | ||||
| 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 syndrome, VSD Â | ||||
| 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  | ||||
| URA or BRA and Some Genetic Disorders Â
(Modified table from Ultrasound diagnosis of fetal renal abnormalities)[3] | ||||
|---|---|---|---|---|
| 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  | |||
Potter syndrome may include bilateral renal agenesis (BRA), pulmonary hypoplasia and oligohydramnios.[4] (For further information about Potter syndrome, click here.)
- Uncontrolled maternal diabetes mellitus
- Use of drugs during pregnancy such as those drugs that inhibit the renin-angiotensin system
- High doses of vitamin A derivates (in animals)
References
References
- ↑ Westland R, Schreuder MF, Ket JC, van Wijk JA (2013). “Unilateral renal agenesis: a systematic review on associated anomalies and renal injury”. Nephrol Dial Transplant. 28 (7): 1844–55. doi:10.1093/ndt/gft012. PMID 23449343.
- ↑ Laurichesse Delmas H, Kohler M, Doray B, Lémery D, Francannet C, Quistrebert J; et al. (2017). “Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries”. Birth Defects Res. 109 (15): 1204–1211. doi:10.1002/bdr2.1065. PMID 28722320.
- ↑ Dias T, Sairam S, Kumarasiri S (2014). “Ultrasound diagnosis of fetal renal abnormalities”. Best Pract Res Clin Obstet Gynaecol. 28 (3): 403–15. doi:10.1016/j.bpobgyn.2014.01.009. PMID 24524801.
- ↑ Zaffanello M, Brugnara M, Zuffante M, Franchini M, Fanos V (2009). “Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution”. Int Urol Nephrol. 41 (1): 127–35. doi:10.1007/s11255-008-9437-5. PMID 18690548.
- ↑ Boix E, Zapater P, Picó A, Moreno O (2005). “Teratogenicity with angiotensin II receptor antagonists in pregnancy”. J Endocrinol Invest. 28 (11): 1029–31. doi:10.1007/BF03345344. PMID 16483184.
- ↑ Nielsen GL, Nørgard B, Puho E, Rothman KJ, Sørensen HT, Czeizel AE (2005). “Risk of specific congenital abnormalities in offspring of women with diabetes”. Diabet Med. 22 (6): 693–6. doi:10.1111/j.1464-5491.2005.01477.x. PMID 15910618.
- ↑ Tse HK, Leung MB, Woolf AS, Menke AL, Hastie ND, Gosling JA; et al. (2005). “Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome”. Am J Pathol. 166 (5): 1295–307. doi:10.1016/S0002-9440(10)62349-8. PMC 1606386. PMID 15855632.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shakiba Hassanzadeh, MD[2]