Renal System - Abnormalities
|Embryology - 4 Oct 2015 Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Australian Statistics
- 4 International Classification of Diseases
- 5 Obstructive Renal Pelvis Defect
- 6 Renal Agenesis or Dysgenesis
- 7 Renal Fusion
- 8 Renal-Adrenal Fusion
- 9 Triad Syndrome
- 10 Polycystic Kidney Disease
- 11 Nephroblastoma (Wilms' Tumor)
- 12 Urorectal Septum Malformation
- 13 Renal Vascular Anomalies
- 14 Bladder Exstrophy
- 15 Bladder
- 16 References
- 17 Terms
- 18 Glossary Links
There are many different forms of renal development abnormalities associated with kidney, ureters, bladder and urethra. There are many genetic disorders associated with failure or abnormal renal development.
Prenatal diagnosis of obstructive and renal agenesis/dysgenesis disorders are also important for early reproductive decisions by the parents. For example, with bilateral renal agenesis, failure of both kidneys to development, is not compatible with fetal/neonatal survival.
Because of their close developmental association, often described as the urogenital system, there can be an associated genital abnormalities.
There are also a range of branchiootorenal spectrum disorders (branchiootorenal syndrome and branchiootic syndrome) where both renal and auditory development are affected (for review see ).
- Renal Links: Introduction | Lecture - Renal Development | Urinary Bladder | Stage 13 | Stage 22 | Fetal | Renal Movies | Stage 22 Movie | Histology | Abnormalities | Category:Renal
|1907 Urogenital images | 1921 Urogenital Development | 1917 Urogenital System | 1926 Embryo 22 Somites|
Some Recent Findings
|More recent papers|
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
S Williams-Phillips Tricuspid Atresia 18 years Post Glenn: Is Fontan Necessary in All Cases? West Indian Med J: 2015, 64(3); PubMed 26426189
Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, Akemi Shono, Satoko Matsunaga, Masaaki Shiina, Yasuhiro Mimura, Shintaro Imamura, Tomonori Hirose, Koji Okudela, Kandai Nozu, Yuko Akioka, Motoshi Hattori, Norishige Yoshikawa, Akiko Kitamura, Hae Il Cheong, Shoji Kagami, Michiaki Yamashita, Atsushi Fujita, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kenichi Ohashi, Naoko Imamoto, Akihide Ryo, Kazuhiro Ogata, Kazumoto Iijima, Naomichi Matsumoto Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Am. J. Hum. Genet.: 2015; PubMed 26411495
Stefano Stagi, Anna Virginia Gulino, Elisabetta Lapi, Donato Rigante Epigenetic control of the immune system: a lesson from Kabuki syndrome. Immunol. Res.: 2015; PubMed 26411453
Christopher Babua, Robert Kalyesubula, Emmy Okello, Barbara Kakande, Elias Sebatta, Michael Mungoma, Charles K Mondo Cardiovascular risk factors among patients with chronic kidney disease attending a tertiary hospital in Uganda. Cardiovasc J Afr: 2013, 26(4);177-180 PubMed 26407219
Bilal Battal, Murat Kocaoğlu, Veysel Akgün, Selami İnce, Faysal Gök, Mustafa Taşar Split-bolus MR urography: synchronous visualization of obstructing vessels and collecting system in children. Diagn Interv Radiol: 2015; PubMed 26359874
Statistics - Top Ten
The ten most frequently reported birth defects in Victoria between 2003-2004.
- Obstructive Defects of the Renal Pelvis or Obstructive Genitourinary Defects
- Ventricular Septal Defect
- Congenital Dislocated Hip
- Trisomy 21 or Down syndrome
- Cleft Palate
- Trisomy 18 or Edward Syndrome - multiple abnormalities of the heart, diaphragm, lungs, kidneys, ureters and palate 86% discontinued.
- Renal Agenesis/Dysgenesis - reduction in neonatal death and stillbirth since 1993 may be due to the more severe cases being identified in utero and being represented amongst the increased proportion of terminations (approximately 31%).
- Cleft Lip and Palate - occur with another defect in 33.7% of cases.
International Classification of Diseases
The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. This is not a full listing of the renal abnormality classifications, only the major sub-headings that relate to development, use the Q60-Q64 links to see additional sub-sub-headings. Close association with the genital system abnormalities (Q50-Q56) means that the two can be related. Pre-existing maternal conditions (O10-O16) such as oedema, proteinuria and hypertensive disorders in pregnancy, can also impact upon development.
Congenital malformations of the urinary system (Q60-Q64)
- Links: Q60-Q64 Detailed
- Q60 Renal agenesis and other reduction defects of kidney Incl.: atrophy of kidney: congenital infantile congenital absence of kidney
- Q61 Cystic kidney disease Excl.: acquired cyst of kidney (N28.1) Potter's syndrome (60.6)
- Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
- Q63 Other congenital malformations of kidney Excl.: congenital nephrotic syndrome (N04.-)
- Q64 Other congenital malformations of urinary system
Excl.: fetus and newborn affected by: maternal complications of pregnancy (P01.-) maternal endocrine and metabolic disorders (P70-P74) noxious influences transmitted via placenta or breast milk (P04.-)
- P00.0 Fetus and newborn affected by maternal hypertensive disorders Fetus or newborn affected by maternal conditions classifiable to O10-O11, O13-O16
- P00.1 Fetus and newborn affected by maternal renal and urinary tract diseases Fetus or newborn affected by maternal conditions classifiable to N00-N39
P96 Other conditions originating in the perinatal period
- P96.0 Congenital renal failure Uraemia of newborn
Obstructive Renal Pelvis Defect
Obstructive Renal Pelvis Defect (obstructive defects of the renal pelvis, uteropelvic junction obstruction, pelvo-uterero junction obstruction) is a term describing a developmental renal abnormality due to partial or complete blockage of the drainage of the kidney pelvis requiring surgical correction.
The blockage during development can be due to failure of recanalization of the outflow tract.
The blockage can have several anatomical causes including:
The blockage leads to an accumulation of urine in the affected region, with several potential effects: nephron damage from compression (hydronephrosis); decreased urine output leading to lack of amniotic fluid (oligohydramnios); respiratory development effects due to the lack of amniotic fluid. The most common type of obstruction is at the uteropelvic junction (UPJ), between the junction of the ureter and the kidney. Blockage lower as the ureter enters the bladder, the ureterovesicular junction (UVJ), usually involves only one kidney and the back flow enlarges the affected ureter (megaureter).
Renal Agenesis or Dysgenesis
Potter's syndrome or sequence is a rare condition (1 in 2000-5000) resulting in bilateral renal agenesis and occurs more frequently in primigravid mothers and more commonly in male offspring. At birth affected infants have a characteristic facial phenotype known as "Potter facies", named after Potter (1946) original description.
Unilateral renal absence is relatively common and may be asymptomatic. In the complete form, bilateral absence, the child is not viable and dies within a few days of birth.
Features associated with this anomaly are:
- Amnion nodosum (small warty amnion with accretions of squamous cells on the inner wall). This is tangible evidence for oligohydramnios.
- Facial deformities: This results from uterine moulding around the head. The ears are low slung and simple, the mandible is small, the nose flattened and the eyes exhibit Pre-epicanthic folds. This is a horseshoe shaped flap of skin from the upper lid to the cheek in front of the epicanthus. (Downs syndrome has an epicanthic fold). Note that the genesis is occasionally incomplete allowing survival (e.g.) Causal factors are largely unknown although there is some familial predisposition. There has been described a mutation in the enzyme, heparan sulfate 2-sulfotransferase, that generates a similar phenotype in the mouse.
Note that upper G.I.T. obstruction is associated with POLYHYDRAMNIOS whereas failure of fetal micturition is associated with OLIGOHYDRAMNIOS with consequent firm uterine moulding on the fetus, leading to facial, locomotor and palatal deformities.
Renal agenesis. I.V. pyelography showing right renal agenesis (or dysplasia) (>). The right hip dysplasia is also shown (>>).
Also described as Horseshoe kidney.
- fusion of the lower poles of the kidney.
- During migration from the sacral region the two metanephric blastemas can come into contact, mainly at the lower pole.
- The ureters pass in front of the zone of fusion of the kidneys.
- The kidneys and ureters usually function adequately but there is an increased incidence of upper urinary tract obstruction or infection.
- Some horseshoe variations have been described as having associated ureter abnormalities including duplications.
A rare anomaly of the upper pole of the kidney historically first described by Rokitansky in 1855. Intrarenal ectopic adrenal tissue can also occur and in such instances consist of adrenal cortical tissue with no adrenal medullary tissue. Other organ fusions can occur with splenogonadal fusion the most commonly reported.
Also described as Prune Belly Syndrome.
The Triad is:
- Agenesis of abdominal wall muscles
- Bladder outflow obstruction
- Bilateral undescended testes
The condition was first described by Frolichand then called "prune belly syndrome" as a descriptive, because the intestinal pattern is evident through the thin protruding abdominal wall in the infant.
Survival of the prune belly child depends on the number of functioning remaining nephrons at birth and the operability of the obstruction.
In some cases there are vestiges of muscle in the abdominal wall and it is not known whether this represents (a) destruction of muscle, or (b) failure of development of muscle. The causes of this malformation are little known, but maternal therapy with estrogens in the first trimester has been implicated frequently.
Polycystic Kidney Disease
- diffuse cystic malformation of both kidneys
- cystic malformations of liver and lung often associated, Often familial disposition
- Two types
- Infantile (inconsistent with prolonged survival)
- Adult (less severe and allows survival)
- Autosomal dominant PKD disease - recently identified at mutations in 2 different human genes encoding membrane proteins (possibly channels)
Cyst formation at the level of the cell, nephron, and kidney
Nephroblastoma (Wilms' Tumor)
- (nephroblastoma) Named after Max Wilms, a German doctor who wrote first medical articles 1899
- most common type of kidney cancer children
- WT1 gene - encodes a zinc finger protein
- Both constitutional and somatic mutations disrupting the DNA-binding domain of WT1 result in a potentially dominant-negative phenotype
- some blastema cells (mass of undifferentiated cells) persist to form a ‘nephrogenic rest’
- Most rests become dormant or regress but others proliferate to form hyperplastic rests
- any type of rest can then undergo a genetic or epigenetic change to become a neoplastic rest
- can proliferate further to produce a benign lesion (adenomatous rest) or a malignant Wilms’ tumour
The Bosniak classification system (I - IV) was designed to separate identified cystic renal masses by analysis of computed tomography (CT) features into surgical and nonsurgical categories. Named after Morton Bosniak, Yale University School of Medicine, the developer of this classification system.
- Category I lesions are simple benign cysts showing homogeneity, water content, and a sharp interface with adjacent renal parenchyma, with no wall thickening, calcification, or enhancement.
- Category II consists of cystic lesions with one or two thin (<=1 mm thick) septations or thin, fine calcification in their walls or septa (wall thickening > 1 mm advances the lesion into surgical category III) and hyperdense benign cysts with all the features of category I cysts except for homogeneously high attenuation. A benign category II lesion must be 3 cm or less in diameter, have one quarter of its wall extending outside the kidney so the wall can be assessed, and be nonenhancing after contrast material is administered.
- Category IIF consists of minimally complicated cysts that need followup. This is a group not well defined by Bosniak but consists of lesions that do not neatly fall into category II. These lesions have some suspicious features that deserve followup to detect any change in character.
- Category III consists of true indeterminate cystic masses that need surgical evaluation, although many prove to be benign. They may show uniform wall thickening, nodularity, thick or irregular peripheral calcification, or a multilocular nature with multiple enhancing septa. Hyperdense lesions that do not fulfill category II criteria are included in this group.
- Category IV lesions with a nonuniform or enhancing thick wall, enhancing or large nodules in the wall, or clearly solid components in the cystic lesion. Enhancement was considered present when lesion components increased by at least 10 H.
Urorectal Septum Malformation
Urorectal septum malformation thought to be a deficiency in caudal mesoderm which in turn leads to the malformation of the urorectal septum and other structures in the pelvic region. Recent research has also identified the potential presence of a persistent urachus prior to septation of the cloaca (common urogenital sinus).
Clinically the condition is described as a urorectal septum malformation sequence (URSMS): female disorder of sexual development; ambiguous external genitalia; imperforate anus, vagina, and urethra; renal, colonic, and lumbosacral anomalies.
Renal Vascular Anomalies
There is an excellent recent 2010 review of renal vascular anomalies shown in adults using computed tomography. The images below are from that review.
|Multiple renal arteries||Accessory renal artery|
Supernumerary right renal vein
Supernumerary right renal vein
Multiple right renal veins
Multiple right renal veins
Renal Vascular Anomalies: Multiple renal arteries | Accessory renal artery | Supernumerary right renal vein 1 | Supernumerary right renal vein 1 | Multiple right renal veins 2 | Multiple right renal veins 2 | Cardiovascular System Development
- developmental abnormality associated with bladder development.
- origins appear to occur not just by abnormal bladder development, but by a congenital malformation of the ventral wall of abdomen (between umbilicus and pubic symphysis).
- There may also be other anomolies associated with failure of closure of abdominal wall and bladder (epispadias, pubic bone anomolies).
- absent or small bladder - associated with renal agenesis.
| An extremely rare abnormality. This Magnetic Resonance Image (MRI) shows a complete bladder duplication with urethra duplication, diphallus, anorectal malformation and rightsided renal agensis with ipsilateral gonadal agenesisis .Cite error: Closing
Ectopic and dilated left ureter (small arrows) inserting ectopically into the obstructed left hemivagina (asterisk) on MR imaging in a 17-year-old girl.
See also Genital System - Abnormalities
Vincent Chariatte, Pascal Ramseyer, François Cachat Uroradiological screening for upper and lower urinary tract anomalies in patients with hypospadias: a systematic literature review. Evid Based Med: 2013, 18(1);11-20 PubMed 22815315
Christopher R J Woodhouse, Guy H Neild, Richard N Yu, Stuart Bauer Adult care of children from pediatric urology. J. Urol.: 2012, 187(4);1164-71 PubMed 22335866
M Ashani Fernando, Sarah M Creighton, Dan Wood The long-term management and outcomes of cloacal anomalies. Pediatr. Nephrol.: 2015, 30(5);759-65 PubMed 25217327
Sujit K Chowdhary, Deepak K Kandpal, Anupam Sibal, Rajendra N Srivastava Management of complicated ureteroceles: Different modalities of treatment and long-term outcome. J Indian Assoc Pediatr Surg: 2014, 19(3);156-61 PubMed 25197194
Cite this page: Hill, M.A. (2015) Embryology Renal System - Abnormalities. Retrieved October 4, 2015, from https://embryology.med.unsw.edu.au/embryology/index.php/Renal_System_-_Abnormalities