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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.

Dysostosis
  • The costovertebral defects were extensive but not contiguous, which establishes this case as being different from the Mendelian forms of spondylocostal dysostosis.[ncbi.nlm.nih.gov]
Hypoxemia
  • Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure.[ncbi.nlm.nih.gov]
Anosmia
  • A case of Kallmann's syndrome (hypogonadotrophic eunochoidism plus anosmia) in which further investigation revealed the association of unilateral renal agenesis is described.[ncbi.nlm.nih.gov]
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]
Macrocephaly
  • Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly.[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]
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]
Testicular Pain
  • We report the case of a 22-year-old man who presented with testicular pain on the left side of 3 weeks' duration. During the clinical investigation of the scrotum a nonpalpable ductus deferens on the left side was found incidentally.[ncbi.nlm.nih.gov]
Phenylketonuria
  • Maternal phenylketonuria (mPKU) during pregnancy leads to the risk of spontaneous abortion or a teratogenic syndrome depending on the level of maternal phenylalaninemia.[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
  • Abstract 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]

Prognosis

  • 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]

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]
  • ] 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]
  • Less common etiologies of intrinsic obstruction include sloughed papilla, blood clots, and urothelial neoplasms.[jaocr.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]
  • 1840 - 1844 ) 27 Risk factors in internal urinary system malformations , Pediatr Nephrol , 1990 , vol. 4 (pg. 319 - 323 ) 28 Renal hypoplasia and dysplasia: starting to put the puzzle together , J Am Soc Nephrol , 2006 , vol. 17 (pg. 2647 - 2649 ) 29 Epidemiology[academic.oup.com]
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]
  • Prolonged follow up is suggested, with unified protocols to prevent renal failure.[colombiamedica.univalle.edu.co]
  • MRI can facilitate early diagnosis and thus help in the prevention of further complications because MRI can show the müllerian duct anomaly complicated by obstructed hemi-vagina in detail and also the ipsilateral renal agenesis [ 1 ].[imedpub.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: 2019-07-11 20:30