Renal agenesis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shakiba Hassanzadeh, MD[2]
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]
Overview
Renal agenesis is the congenital failure of embryonic kidney formation and may either be unilateral (congenital absence of one kidney with usually normal and hypertrophied contralateral solitary kidney) or bilateral (congenital absence of both kidneys which is incompatible with life). Renal agenesis may be isolated or associated with other anomalies and syndromes. Renal agenesis is diagnosed with routine screening with fetal ultrasound. Patients with unilateral renal agenesis (URA) have an increased risk for proteinuria, hypertension, and renal insufficiency. The mortality rate of bilateral renal agenesis (BRA) without prenatal therapy with serial amnioinfusion is 100%, however, further studies are required to assess the outcome, risks and benefits of serial amnioinfusion.
Classification
Renal agenesis may be classified as unilateral renal agenesis(URA) or bilateral renal agenesis (BRA).[2] URA is the congenital absence of one kidney and BRA is the congenital absence of both kidneys which is incompatible with life.[2][3][4][5] Renal agenesis may be isolated or associated with other anomalies and syndromes.[6][7]
Pathophysiology
Renal agenesis results from the failure of the ureteric bud to form the ureter, renal pelvis and the collecting duct system and the failure of the renal mesenchyme to form nephrons.[8]
Causes
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.[7][2][6]
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.[7] The incidence of bilateral renal agenesis (BRA) is approximately 1 in every 3000 pregnancies.[9][10] The mortality rate of bilateral renal agenesis (BRA) without prenatal therapy is 100%.[3]
Screening
Prenatal screening with ultrasound during pregnancy is routinely performed and this has led to an increase in the diagnosis of unilateral renal agenesis (URA).[7]
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.[7] Prognosis of bilateral renal agenesis (BRA) is extremely poor, and the mortality rate is 100% without prenatal therapy with serial amnioinfusion.[3]
Diagnosis
History
Maternal history during pregnancy for uncontrolled diabetes and treatment for hypertension may be important in unilateral renal disease (URA).[11] Checking the family history of patients with URA for URA, CAKUT (congenital anomalies of the kidney and urinary tract), end stage renal disease (ESRD), and consanguinity may be important.[12]
Symptoms and Physical Examination
Follow up with checking of blood pressure (for hypertension) and urinalysis (for proteinuria and renal insufficiency) should be considered in patients with unilateral renal agenesis (URA).[13][14] Checking for other contralateral congenital anomaly of kidney or urinary tract (CAKUT) such as VUR (vesicoureteral reflux) and PUJO (pelviureteric junction obstruction), extra-renal anomalies in different organs (such as cardiac, lung, gastrointestinal, genital, skeleton, and vertebral) , and associated syndromes and sequences (such as VACTERL, CHARGE and Trisomy 18) should be considered when URA is diagnosed.[6][7]
CT
Postnatal abdominal CT scan in patients with unilateral renal agenesis (URA) shows no renal parenchyma.[14]
MRI
Prenatal MRI may be used for evaluating oligohydramnios, anhydramnios, fetal pulmonary hypoplasia and lung volumes.[15][16][17] Postnatal MRI may be helpful in differentiating unilateral renal agenesis (URA) from multicystic dysplastic kidney (MCDK) or renal ectopia.[18]
Ultrasound
Renal agenesis is diagnosed with routine screening with fetal ultrasound.[7] Renal ultrasonography shows no renal parenchyma in unilateral renal agenesis (URA).[14] Ultrasound findings in bilateral renal agenesis (BRA) may include: absence of fetal kidneys in the renal fossa, empty bladder and anhydramnios after 16 weeks of gestation.[19] Absence of renal arteries on color doppler ultrasonography indicates bilateral renal agenesis (BRA) and may be used as an additive diagnostic tool.[20]
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.[14] [18]
Other Diagnostic Studies
There are no other diagnostic studies associated with renal agenesis.
Treatment
Medical Therapy and Surgery
Patients with unilateral renal agenesis (URA may progress to renal insufficiency that may progress to end stage renal disease (ESRD) and therefore may require medical treatment or renal replacement therapy.[14][5][13] The mortality rate of bilateral renal agenesis (BRA) without prenatal therapy with serial amnioinfusion, however is 100%, however, further studies are required to assess the outcome, risks and benefits of serial amnioinfusion, infancy dialysis and kidney transplantation.[3]
Primary Prevention
There are no established measures for the primary prevention of renal agenesis.
Secondary Prevention
There are no established measures for the secondary prevention of renal agenesis.
Early diagnosis of unilateral renal agenesis (URA) and immediate intervention is helpful in controlling the progression to renal insufficiency.[14]
Cost-Effectiveness of Therapy
There is insufficient evidence about the cost-effectiveness of therapy in renal agenesis.
Future or Investigational Therapies
Intervention with serial amnioinfusion in bilateral renal agenesis (BRA) requires further clinical trials, and further research is needed to assess the long-term outcome of infant dialysis and renal transplantation.[3]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 191830
- ↑ 2.0 2.1 2.2 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.
- ↑ 3.0 3.1 3.2 3.3 3.4 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.
- ↑ Robson WL, Leung AK, Rogers RC (1995). "Unilateral renal agenesis". Adv Pediatr. 42: 575–92. PMID 8540439.
- ↑ 5.0 5.1 Woolf AS, Hillman KA (2007). "Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives". BJU Int. 99 (1): 17–21. doi:10.1111/j.1464-410X.2006.06504.x. PMID 16956352.
- ↑ 6.0 6.1 6.2 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.
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 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.
- ↑ Kerecuk L, Schreuder MF, Woolf AS (2008). "Renal tract malformations: perspectives for nephrologists". Nat Clin Pract Nephrol. 4 (6): 312–25. doi:10.1038/ncpneph0807. PMID 18446149.
- ↑ 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.
- ↑ Woolf AS, Hillman KA (2007). "Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives". BJU Int. 99 (1): 17–21. doi:10.1111/j.1464-410X.2006.06504.x. PMID 16956352.
- ↑ 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.
- ↑ 13.0 13.1 Argueso LR, Ritchey ML, Boyle ET, Milliner DS, Bergstralh EJ, Kramer SA (1992). "Prognosis of patients with unilateral renal agenesis". Pediatr Nephrol. 6 (5): 412–6. doi:10.1007/BF00873996. PMID 1457321.
- ↑ 14.0 14.1 14.2 14.3 14.4 14.5 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.
- ↑ 18.0 18.1 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.
- ↑ Sgro M, Shah V, Barozzino T, Ibach K, Allen L, Chitayat D (2005). "False diagnosis of renal agenesis on fetal MRI". Ultrasound Obstet Gynecol. 25 (2): 197–200. doi:10.1002/uog.1739. PMID 15543544.
- ↑ DeVore GR (1995). "The value of color Doppler sonography in the diagnosis of renal agenesis". J Ultrasound Med. 14 (6): 443–9. doi:10.7863/jum.1995.14.6.443. PMID 7658512.