Renal agenesis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Renal agenesis is the absence of one (unilateral) or both (bilateral) kidneys at birth. Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.
It can be associated with RET or UPK3A.[1]
Epidemiology and Demographics
The general incidence of unilateral renal agenesis (URA) has been reported to be approximately 1 in 2031 individuals. Males are more commonly affected by unilateral renal agenesis (URA) than females.[2] The incidence of bilateral renal agenesis (BRA) is approximately 1 in every 3000 pregnancies.[3][4] The mortality rate of bilateral renal agenesis (BRA) without prenatal therapy is 100%.[5]
Natural History, Complications, and Prognosis
Complications of unilateral renal agenesis (URA) may include signs of renal injury such as: hypertension, microalbuminuria and chronic kidney disease.[2] Prognosis of bilateral renal agenesis (BRA) is extremely poor, and the mortality rate is 100% without prenatal therapy with serial amnioinfusion.[5]
Diagnosis
History and Symptoms
Physical Examination
CT
MRI
Prenatal MRI may be used for evaluating oligohydramnios, anhydramnios, fetal pulmonary hypoplasia and lung volumes. Postnatal MRI may be helpful in differentiating unilateral renal agenesis (URA) from multicystic dysplastic kidney (MCDK) or renal ectopia.
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 191830
- ↑ 2.0 2.1 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.
- ↑ Bienstock JL, Birsner ML, Coleman F, Hueppchen NA (2014). "Successful in utero intervention for bilateral renal agenesis". Obstet Gynecol. 124 (2 Pt 2 Suppl 1): 413–5. doi:10.1097/AOG.0000000000000339. PMID 25004316.
- ↑ Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH (2000). "Fetuses and infants with congenital urinary system anomalies: correlation between prenatal ultrasound and postmortem findings". Ultrasound Obstet Gynecol. 15 (3): 177–85. doi:10.1046/j.1469-0705.2000.00065.x. PMID 10846770.
- ↑ 5.0 5.1 Huber C, Shazly SA, Blumenfeld YJ, Jelin E, Ruano R (2019). "Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis". Obstet Gynecol Surv. 74 (5): 298–302. doi:10.1097/OGX.0000000000000670. PMID 31098643.