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
Postnatal abdominal CT scan in patients with unilateral renal agenesis (URA) shows no renal parenchyma.[6]
MRI
Prenatal MRI may be used for evaluating oligohydramnios, anhydramnios, fetal pulmonary hypoplasia and lung volumes.[7][8][9] Postnatal MRI may be helpful in differentiating unilateral renal agenesis (URA) from multicystic dysplastic kidney (MCDK) or renal ectopia.[10]
Ultrasound
Other Imaging Findings
Postnatal renal scintigraphy in patients with unilateral renal agenesis (URA) shows no renal function and may be helpful in differentiating unilateral renal agenesis (URA) from multicystic dysplastic kidney (MCDK) or renal ectopia.[6] [10]
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.
- ↑ 6.0 6.1 Xu Q, Wu H, Zhou L, Xie J, Zhang W, Yu H; et al. (2019). "The clinical characteristics of Chinese patients with unilateral renal agenesis". Clin Exp Nephrol. 23 (6): 792–798. doi:10.1007/s10157-019-01704-x. PMID 30734167.
- ↑ Gęca T, Krzyżanowski A, Stupak A, Kwaśniewska A, Pikuła T, Pietura R (2014). "Complementary role of magnetic resonance imaging after ultrasound examination in assessing fetal renal agenesis: a case report". J Med Case Rep. 8: 96. doi:10.1186/1752-1947-8-96. PMC 3976151. PMID 24618008.
- ↑ Kehl S, Zirulnik A, Debus A, Sütterlin M, Siemer J, Neff W (2011). "In vitro models of the fetal lung: comparison of lung volume measurements with 3-dimensional sonography and magnetic resonance imaging". J Ultrasound Med. 30 (8): 1085–91. doi:10.7863/jum.2011.30.8.1085. PMID 21795484.
- ↑ Paek BW, Coakley FV, Lu Y, Filly RA, Lopoo JB, Qayyum A; et al. (2001). "Congenital diaphragmatic hernia: prenatal evaluation with MR lung volumetry--preliminary experience". Radiology. 220 (1): 63–7. doi:10.1148/radiology.220.1.r01jl4163. PMID 11425973.
- ↑ 10.0 10.1 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.