Unilateral renal agenesis is a congenital disease characterized by the lack of development of a kidney. It is either inherited or results from spontaneous gene mutations, sometimes occurring as part of a syndrome. When renal agenesis is bilateral, it is not compatible with life.
Presentation
Prenatally, unilateral renal agenesis (URA) follows the course of an uneventful pregnancy. It can be diagnosed via ultrasound during antenatal care, but this is difficult and often the ipsilateral adrenal gland is mistaken for a kidney. A good number of cases are thus diagnosed after birth. When the condition occurs in isolation, infants are normally well during the postnatal period.
The detection of URA is often coincidental. In childhood, it may be discovered in the context of genitourinary complaints, such as urinary tract infections (UTIs), which have an amplified frequency when vesicoureteral reflux, seen in over 30% of children with URA, is present [1]. Obstruction of the urinary tract is yet another possible source of illness [2]. If the existing kidney is healthy, sufferers can lead normal lives. Notably, the contralateral kidney is usually significantly larger than normal, and harbors a higher number of nephrons; an adaptive measure that allows it to carry out twice the filtration of a normal kidney [3]. At length, this increases the risk of renal failure and hypertension in adults.
A number of anomalies have been known to coexist with URA, and these are often more apparent and more readily detected. The main developmental errors seen are Mullerian and Wolffian duct malformations in females and males respectively. Mullerian duct abnormalities include a malformed uterus or vagina. These may present later in life, with symptoms such as an abdominal mass, dysmenorrhea, recurrent pregnancy loss, and infertility. In men, the epididymis, ductus deferens, and the seminal vesicles can be involved [4]. Moreover, the above disorders range from complete absence of vital structures to minor deviations that are asymptomatic.
As mentioned earlier, URA is associated with a number of syndromes, for instance, Mayer-Rokitansky-Küster-Hauser syndrome, DiGeorge syndrome, and a combination of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities that typify the VACTERL association. Cardiac and musculoskeletal defects have also been described.
Entire Body System
- Atrial Septal Defect
In the third day of life a diagnosis of situs inversus viscerum totalis, subaortic stenosis, restrictive ventricular septal defect and atrial septal defect ostium secundum has been made. [adc.bmj.com]
TVS is also known to be associated with imperforate anus, bicornuate uterus, coarctation of the aorta, atrial septal defect and malformation of the lumbar spine in 37-60% affected females [ 6 ]. [hoajonline.com]
- Short Stature
[…] neck 33 hallmark (90%) HP:0000470 2 short stature 33 hallmark (90%) HP:0004322 3 ectopic kidney 33 hallmark (90%) HP:0000086 4 low posterior hairline 33 hallmark (90%) HP:0002162 5 azoospermia 33 hallmark (90%) HP:0000027 6 renal agenesis 33 hallmark [malacards.org]
It can affect either sex and is characterised by multiple abnormalities, including congenital heart disease, short stature, developmental delay, cryptorchidism in boys, increased bleeding tendency and characteristic facial features. [patient.info]
Cardiovascular
- Hypertension
Retrospective analysis considered the presence of gestational hypertension, proteinuria, preeclampsia, perinatal outcomes and manifestations of hypertension and renal disease during the follow-up period in both groups. [ncbi.nlm.nih.gov]
Psychiatrical
- Suggestibility
Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations. [ncbi.nlm.nih.gov]
Urogenital
- Cesarean Section
OUTCOMES: The primary outcome was adverse maternal outcomes, including preterm delivery, delivery by cesarean section, preeclampsia/eclampsia, and hospital length of stay. [ncbi.nlm.nih.gov]
The primary outcome of this study was adverse maternal outcomes including 1) preterm delivery, 2) need for cesarean section, 3) maternal hospital stay longer than 3 days, and 4) a preeclampsia/eclampsia diagnosis. [ajkdblog.org]
From the two fetuses with IUGR, one fetus with normal karyotype was born at 34 pw by cesarean section (CS) and had a good evolution, while the second was born by emergency CS after a spontaneously induced labour and died. [tmj.ro]
The mother gave birth to a boy at 27 + 2 weeks of gestation by cesarean section due to preterm rupture of the membranes and contractions despite intravenous tocolysis. [jmedicalcasereports.biomedcentral.com]
- Renal Injury
We estimated the prevalence of associated CAKUT and extra-renal anomalies in patients with URA. Furthermore, we determined the prevalence of renal injury in URA patients. [ncbi.nlm.nih.gov]
Data on signs of renal injury, i.e. the presence of hypertension, micro-albuminuria and/or a GFR 23 ]. [academic.oup.com]
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. Nephrol Dial Transplant, 28 (2013), pp. 1844-1855 [25] J.H. Kwon, E.M. Hwang, B.S. Choi, Y.S. Kim, B.K. Bang, C.W. Yang. [analesdepediatria.org]
- Hematuria
She had first noticed hematuria when she was 17 years old. She had never menstruated and had noticed an abnormality in her genitals. The hematuria has been cyclical since the first episode, the last one being 3 weeks prior to presentation. [hoajonline.com]
Routine laboratory work revealed an elevated BUN and creatinine, and a urinalysis showed gross hematuria. Her medical and surgical history were noncontributory. Plain films of the abdomen and chest did not demonstrate a significant abnormality. [jaocr.org]
The first case was a 43-year-old male, with chief complaint of hematuria with blood clot. After laboratory and urological examinations, right nephrectomy was performed for suspicious ureteral tumor. [webview.isho.jp]
- Urinary Retention
Mostyn Embrey syndrome should be considered in the differential diagnoses in young females with unilateral renal agenesis presenting with pelvic mass, symptoms of acute abdomen and acute urinary retention [ 1 ]. [imedpub.com]
Workup
Ultrasound is the preferred technique in the detection URA because of its noninvasive nature. In addition, Doppler ultrasound further enhances correct diagnosis by minimizing inaccuracies discussed above, concerning the ipsilateral adrenal gland [5]. It is essential to gauge the performance of the existing kidney through the approximation of the glomerular filtration rate (GFR). Magnetic resonance imaging (MRI) scanning can prove instrumental when detailing other non-urinary defects.
Those with URA need life long medical follow ups to monitor their blood pressure and renal function. Investigations include urinalysis to perceive proteinuria and signs of UTIs, measurement of urea and electrolytes, as well as the GFR. Furthermore, sub-clinical urinary tract malformations have been reported in first degree relatives of individuals with URA [6]. Hence the latter may benefit from genetic counseling, as their abnormalities may be the consequence of an autosomal dominant gene [7] [8].
Treatment
Ergotamine, an ergot alkaloid, used for the treatment and prevention of migraine attacks, is considered as a teratogenic drug and, therefore, should be avoided in pregnancy. [ncbi.nlm.nih.gov]
[…] of Prostate Cancer 541 Treatment of Locally Advanced Prostate Cancer 542 Clinical State of the Rising PSA Value after Definitive Local Therapy 544 Hormone Therapy for Prostate Cancer 547 Treatment of CastrationResistant Prostate Cancer 551 Normal Development [books.google.com]
Prognosis
Prognosis of patients with unilateral renal agenesis. [mayoclinic.pure.elsevier.com]
Abstract We have evaluated the long-term prognosis in an unselected group of adult patients either uni-nephrectomized in childhood because of hydronephrosis or born with unilateral renal agenesis. [ncbi.nlm.nih.gov]
Prognosis depends on other abnormalities. Links: single umbilical artery [gpnotebook.co.uk]
Etiology
Thus, the etiology of renal agenesis remains multifactorial. [ncbi.nlm.nih.gov]
Epidemiology and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology [books.google.com]
The etiology of renal agenesis is suggested. In many instances there are anomalies of other parts of the body. In a few cases it is recognized that genetic factors are responsible. [pediatrics.aappublications.org]
Less common etiologies of intrinsic obstruction include sloughed papilla, blood clots, and urothelial neoplasms. [jaocr.org]
] In the Vater syndrome, unilateral renal agenesis is associated with other multiple anomalies such as ventricular septal defects, vertebral anomalies, anorectal atresia, tracheal and esophageal lesions. [6] There are two main theories regarding the etiology [njssjournal.org]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Echandía, Associate Professor, Department of Pediatrics, Faculty of Health, Universidad del Valle, Master�s in Epidemiology, for his collaboration in the initial protocol and questionnaire. [colombiamedica.univalle.edu.co]
This article reviews the embryology, epidemiology, etiology, clinical features and other malformations associated with congenital renal agenesis. [sjkdt.org]
Clinical-epidemiological analysis of a large consecutive series of malformates infants. Am J Med Genet A. 2008;1;146:15-25. 8. Granese R, Coco C, Jeanty P. [tmj.ro]
Pathophysiology
Cutaneous Continent Urinary Diversion 459 Orthotopic Urinary Diversion 465 Genital and Lower Urinary Tract Trauma 468 Lower Urinary Tract Calculi 471 Development Molecular Biology and Physiology of the Prostate 476 Benign Prostatic Hyperplasia Etiology Pathophysiology [books.google.com]
[…] membrane nephropathy, has also been described with hypercalciuria, hyperuricosuria and nephrolithiasis. 35 Even thin basement membrane nephropathy can be associated with simple renal cysts. 36 For many years in medical literature it could be read that the pathophysiologic [analesdepediatria.org]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Ergotamine, an ergot alkaloid, used for the treatment and prevention of migraine attacks, is considered as a teratogenic drug and, therefore, should be avoided in pregnancy. [ncbi.nlm.nih.gov]
The best management approach therefore is taking preventive measures as much as is possible to prevent congenital malformations from occurring. [drberman.org]
References
- Atiyeh B, Hussmann D, Baum M. Contralateral renal anomalies in patients with renal agenesis and noncystic renal dysplasia. Pediatrics. 1993;91(4):812-815.
- Woolf AS, Hillman KA. Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives. BJU Int. 2007;99(1):17-21.
- van Vuuren SH, van der Doef R, Cohen-Overbeek TE, et al. Compensatory enlargement of a solitary functioning kidney during fetal development. Ultrasound Obstet Gynecol. 2012;40(6):665-668.
- Donohue RE, Fauver HE. Unilateral absence of the vas deferens. A useful clinical sign. JAMA. 1989;261(8):1180.
- DeVore GR. The value of color Doppler sonography in the diagnosis of renal agenesis. J Ultrasound Med. 1995;14(6):443-449.
- Roodhooft AM, Birnholz JC, Holmes LB. Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med. 1984;310(21):1341-1345.
- Pallotta R, Bucci I, Celentano C, Liberati M, Bellati U. The 'skipped generation' phenomenon in a family with renal agenesis. Ultrasound Obstet Gynecol. 2004;24(5):586-587.
- Roume J, Ville Y. Prenatal diagnosis of genetic renal diseases: breaking the code. Ultrasound Obstet Gynecol. 2004;24(1):10-18.