Genetic Aspects of Congenital Urologic Anomalies

Nordenskjöld, Agneta

doi:10.1016/j.eursup.2015.01.003

Cited by 3 publications

(2 citation statements)

References 49 publications

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“…That is to say multifactoral effects play an important role in the causation of developmental abnormalities. It has been suggested that many BDs have genetic and environmental factors that contribute to the formation of a particular defect [ 8 ]. Other studies indicate that prenatal exposure to certain teratogenic agents has a high risk of having an infant with a BD [ 1 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study

et al. 2016

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BackgroundBirth defects are defined as structural and functional defects that develop during the organogenesis period and present at birth or detected later in life. They are one of the leading causes of infant and child mortality, morbidity, and long term disability. The magnitude of birth defects varies from country to country and from race/ethnicity to race/ethnicity, and about 40–60% of their causes are unknown. The known causes of birth defects are genetic and environmental factors which may be prevented. For various reasons, there is lack of data and research on birth defects in Ethiopia.ObjectiveThe major objective of this study is to estimate the magnitude of birth defects in Ethiopia.Subject and MethodsA hospital based, retrospective, cross sectional, descriptive study was conducted. The subjects were babies/children aged 0–17years who visited selected hospitals between 2010 and 2014. Fourteen hospitals (8 in Addis Ababa, 6 in Amhara Region) were selected purposively based on case load. A data retrieving form was developed to extract relevant information from record books.ResultsIn the hospitals mentioned, 319,776 various medical records of children aged 0–17years were found. Of these, 6,076 (1.9% with 95% CI: 1.85%–1.95%) children were diagnosed as having birth defects. The majority (58.5%) of the children were male and 41.5% female. A slightly more than half (51.1%) of the children were urban dwellers, while 48.9% were from rural areas. Among the participants of the study the proportion of birth defects ranged as follows: orofacial (34.2%), neural tube (30.8%), upper and lower limb (12.8%), cardiovascular system (10.3%), digestive system and abdominal wall (4.8%), unspecified congenital malformations (2.5%), Down syndrome (2%), genitourinary system (2%), head, face, and neck defects (0.4%), and others (0.3%). The trend of birth defects increased linearly over time [Extended Mantel-Haenszel chi square for linear trend = 356.7 (P<0.0001)]. About 275 (4.5%) of the cases had multiple (associated) birth defects and 5,801 (95.5%) isolated (single) birth defects. Out of the total birth defects, 6,018 (99%) were major and 58 (1%) minor.ConclusionThe magnitude of birth defects increased from 2010–2014. Orofacial and neural tube defects contributed about two thirds of the birth defects. There is an urgent need for registry and surveillance system strategies for intervention and control of birth defects in Ethiopia.

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Section: Introductionmentioning

confidence: 99%

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study

et al. 2016

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“…Additional factors might predispose mice to diverse urinary malformations. Genetic factors may be influenced by environmental exposure, leading to differing phenotypes despite identical gene mutations [ 26 , 27 ]. Studies are needed to identify environmental factors that influence the penetrance and severity of CAKUT.…”

Section: Discussionmentioning

confidence: 99%

New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon

et al. 2016

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Background: Disruption of ROBO2 in humans causes vesicoureteral reflux (VUR)/congenital anomalies of the kidney and urinary tract (CAKUT). PiggyBac (PB) is a DNA transposon, and its insertion often reduces-but does not eliminate-gene expression. The Robo2 insertion mutant exhibited non-dilating VUR, ureteropelvic junction obstruction (UPJO) not found in reported models. We studied the incidence and outcomes of VUR/CAKUT in this mutant and explored the relationship between Robo2 gene expression and the occurrence and severity of VUR/CAKUT. Methods: The urinary systems of newborn mutants were evaluated via Vevo 770 micro-ultrasound. Some of the normal animals-and all of the abnormal animals-were followed to adulthood and tested for VUR. Urinary obstruction experiments were performed on mice with hydronephrosis. The histology of the kidney and ureter was examined by light microscopy and transmission electron microscopy. Robo2 PB/PB mice were crossed with Hoxb7/myr-Venus mice to visualize the location of the ureters relative to the bladder. Results: In Robo2 PB/PB mice, PB insertion led to an approximately 50 % decrease in Robo2 gene expression. The most common (27.07 %, 62/229) abnormality was non-dilating VUR, and no statistically significant differences were found between age groups. Approximately 6.97 % displayed ultrasound-detectable CAKUT, and these mice survived to adulthood without improvement. No severe CAKUT were found in Robo2 PB/+ mice. The refluxing ureters showed disorganized smooth muscle fibers, reduced muscle cell populations, intercellular edema and intracytoplasmic vacuoles in smooth muscle cells. Both UPJ and UVJ muscle defects were noted in Robo2 PB/PB mice.Conclusions: Robo2 PB/PB mice is the first Robo2-deficient mouse model to survive to adulthood while displaying non-dilating VUR, UPJO, and multiple ureters with blind endings. The genetic background of these mutants may influence the penetrance and severity of the CAKUT phenotypes. VUR and other CAKUT found in this mutant had little chance of spontaneous resolution, and this requires careful follow-up. We reported for the first time that the non-dilated refluxing ureters showed disorganized smooth muscle fibers and altered smooth muscle cell structure, more accurately mimicking the characteristics of human cases. Future studies are required to test the role of Robo2 in the ureteric smooth muscle.

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Urethral meatus preserving ventral onlay augmentation urethroplasty for female urethral stricture: our technique with initial experience

et al. 2021

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Background Female urethral stricture (FUS) is an uncommon cause of lower urinary tract symptoms (LUTS) in women. Reconstructive techniques are being increasingly used for strictures resistant to the more conservative form of management. Most forms of reconstruction require cutting open of urethral meatus, thereby resulting in some loss of the meatus function. We hereby describe the technique of urethral meatus sparing ventral onlay mucosal graft augmentation urethroplasty with our initial experience. Methods We performed this procedure in 10 cases of FUS with normal meatus and prospectively studied the outcomes over a period of 6 months follow-up. Results There was 90 percent success rate with one recurrence. The mean Qmax increased from 7.2 to 19.5 ml/s, mean post-void residual urine (PVRU) decreased from 96.5 to 22.7 ml and the mean IPSS decreased from 26.1 to 5.7. There were no major complications noted and the patients demonstrated significant subjective and objective improvement of symptoms in the follow-up period. Conclusion The technique of meatus sparing ventral onlay augmentation graft urethroplasty is a promising approach with good outcomes, is reproducible and has minimal complication rate.

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Genetic Aspects of Congenital Urologic Anomalies

Cited by 3 publications

References 49 publications

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study

New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon

Urethral meatus preserving ventral onlay augmentation urethroplasty for female urethral stricture: our technique with initial experience

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