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Unilateral Renal Agenesis

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.

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]
  • Our review indicates that patients with unilateral renal agenesis and a normal solitary kidney are at increased risk of proteinuria, hypertension, and renal insufficiency.[ncbi.nlm.nih.gov]
  • Hypertension was diagnosed on the basis of clinical BP in 57% of the children with abnormal kidneys and on the basis of ambulatory BP monitoring in 1 child (7%) with healthy kidneys.[ncbi.nlm.nih.gov]
  • Arterial hypertension was present in 7/30 (23%) WTs and 1/17 (6%) patients with URA. WTs have similar eGFR to individuals with URA and are more likely to have arterial hypertension. The patients with URA have signs of tubular damage.[ncbi.nlm.nih.gov]
  • Hypertension could be identified in 16% of patients, whereas 21% of patients had micro-albuminuria. Ten per cent of patients had a GFR 60 mL/min/1.73 m2;.[ncbi.nlm.nih.gov]
Advanced Bone Age
  • Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age.[ncbi.nlm.nih.gov]
Waardenburg Syndrome
  • The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome.[ncbi.nlm.nih.gov]
Pointed Chin
  • Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age.[ncbi.nlm.nih.gov]
Vaginal Discharge
  • Two patients with unexplained profuse vaginal discharge were noted to have anomalous uterine development associated with renal agenesis.[ncbi.nlm.nih.gov]
  • Another 10 patients presented clinical symptoms, including urinary incontinence in five, urinary tract infection in one, and vaginal discharge in four.[ncbi.nlm.nih.gov]
Profuse Vaginal Discharge
  • Two patients with unexplained profuse vaginal discharge were noted to have anomalous uterine development associated with renal agenesis.[ncbi.nlm.nih.gov]

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].

Occipital Encephalocele
  • Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia.[ncbi.nlm.nih.gov]

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]
  • The evaluation and surgical treatment of a "H-type" urethrorectal communication with complete urethral stenosis presenting in a 4-month-old infant is described. Additionally, he had a left renal agenesis and anal stenosis.[ncbi.nlm.nih.gov]
  • Whether treatments such as dietary protein restriction, use of angiotensin-converting enzyme inhibitors, or other therapeutic interventions will have a beneficial effect in asymptomatic individuals with unilateral renal agenesis remains to be determined[ncbi.nlm.nih.gov]
  • To test the hypothesis that Wilms tumour survivors (WTs) experience increased disturbance in renal function, even after prompt treatment, compared to patients with unilateral renal agenesis (URA).[ncbi.nlm.nih.gov]
  • Radiotherapy is effective treatment in advance vaginal adenocarcinoma, however, with high morbidity. The authors advise rigorous gynecologic exams in young females with renal agenesis as there may be a risk of malignant changes in vagina.[ncbi.nlm.nih.gov]

Prognosis

  • 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]
  • The clinical course was reviewed in 157 patients with unilateral renal agenesis and a normal contralateral kidney for the purpose of establishing a prognosis. There were 85 males (54%) and 72 females (46%).[ncbi.nlm.nih.gov]
  • Postnatal renal function is dependent on adequate intra-uterine compensatory growth; the presented nomograms provide insight into renal prognosis and add paramount information to the multidisciplinary prenatal counseling of the future parents. 2016 John[ncbi.nlm.nih.gov]
  • A longitudinal cohort from the antenatal period to puberty should be performed to determine the prognosis of the contralateral kidney among these children with isolated, associated with contralateral CAKUT and URA with extra-renal anomalies.[ncbi.nlm.nih.gov]

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]
  • Until such a time that we are able to determine with certainty the etiology of congenital anomalies, the best that can be done is mainly preventive.[drberman.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]
  • […] 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]
  • Dysplasia-Cervical Somite Anomalies Syndrome 59 Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii 57 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 59 Atypical Mrkh Syndrome 59 Mrkh Syndrome Type 2 59 Murcs Association 59 Mrkh, Type Ii 57 Characteristics: Orphanet epidemiological[malacards.org]
  • 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]
Sex distribution
Age distribution

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

  • 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 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]
  • The best management approach therefore is taking preventive measures as much as is possible to prevent congenital malformations from occurring.[drberman.org]
  • Treatment is focused on preventing progression to stage 5, end-stage renal disease.[clinicaladvisor.com]

References

Article

  1. Atiyeh B, Hussmann D, Baum M. Contralateral renal anomalies in patients with renal agenesis and noncystic renal dysplasia. Pediatrics. 1993;91(4):812-815.
  2. 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.
  3. 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.
  4. Donohue RE, Fauver HE. Unilateral absence of the vas deferens. A useful clinical sign. JAMA. 1989;261(8):1180.
  5. DeVore GR. The value of color Doppler sonography in the diagnosis of renal agenesis. J Ultrasound Med. 1995;14(6):443-449.
  6. 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.
  7. 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.
  8. Roume J, Ville Y. Prenatal diagnosis of genetic renal diseases: breaking the code. Ultrasound Obstet Gynecol. 2004;24(1):10-18.

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Last updated: 2018-06-21 22:09