Urological Manifestations of Down Syndrome

Mercer, Erica Schalow; Broecker, Bruce H.; Smith, Edwin A.; Kirsch, Andrew J.; Scherz, H. A. L. C.; Massad, Charlotte A.

doi:10.1097/01.ju.0000112915.69436.91

Cited by 62 publications

(50 citation statements)

References 38 publications

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“…Frequency of urinary symptoms in decreasing order were dysuria (11/40), increased frequency (7/40), incontinence (6/40), hesitancy (6/40), poor urinary stream (3/40), hematuria (2/40) and post micturition dribbling (2/40). Incidence of Renal and Urinary Tract Anomalies (RUTA) were hydronephrosis (20 %), renal parenchymal thickening, dilatation of ureter, renal hypoplasia, vesicoureteric reflux, pelvi-ureteric junction obstruction, renal calculi and neurogenic bladder as seen in previous studies [2,3].Unlike previous studies, we found a high prevalence of RUTAs in DS pediatric population, supporting our hypothesis [4,5]. The higher incidence of RUTA in our study may be attributed to small sample size and limited screening of DS patients brought to health facility.…”

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confidence: 84%

Evaluation of Structural Anomalies of Kidney and Urinary Tract in Children with Down Syndrome

et al. 2013

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To the Editor: Down syndrome (DS) is the most common chromosomal abnormality with a prevalence of 1.72 per 1,000 total births [1]. The congenital anomalies in Down syndrome can involve any system with varying degree of severity and thus, requires active referral on part of clinician to improve the standard of care in such group of DS patients. At present, screening for renal and urinary tract anomalies is not standard care during the initial evaluation of newborns with DS. To answer this question, we undertook the present study to look for structural anomalies of kidney and urinary tract in cases with Down syndrome. Forty children with chromosomal diagnosis of Down syndrome were enroled in the study over a period of two months. The age group of patients was birth to 18 y. All patients were screened for any urinary complaints according to predesigned performa. Subjects were further evaluated by ultrasonography of kidney, ureter, and bladder region (KUB) for any structural anomalies. Further DTPA scan, micturating cystourethrography (MCU) were performed in cases where it was indicated. Frequency of urinary symptoms in decreasing order were dysuria (11/40), increased frequency (7/40), incontinence (6/40), hesitancy (6/40), poor urinary stream (3/40), hematuria (2/40) and post micturition dribbling (2/40). Incidence of Renal and Urinary Tract Anomalies (RUTA) were hydronephrosis (20 %), renal parenchymal thickening, dilatation of ureter, renal hypoplasia, vesicoureteric reflux, pelvi-ureteric junction obstruction, renal calculi and neurogenic bladder as seen in previous studies [2,3].Unlike previous studies, we found a high prevalence of RUTAs in DS pediatric population, supporting our hypothesis [4,5]. The higher incidence of RUTA in our study may be attributed to small sample size and limited screening of DS patients brought to health facility. Another limitation of our study is that we did not include the derangements in kidney function test and pathological findings like renal hypoplasia, immature glomeruli and tubular dilation. Despite these limitations, our study points to significant abnormality in KUB region of these patients. This needs to be further authenticated by a large population based study so that clinical guidelines are formulated for better care of DS patients in resource poor countries like ours.

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confidence: 84%

Evaluation of Structural Anomalies of Kidney and Urinary Tract in Children with Down Syndrome

et al. 2013

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“…A variety of renal involvement in DS have been described, including ureteropelvic junction obstruction, vesicoureteral reflux, renal hypoplasia, obstructive uropathy and posterior urethral valves hypospadias, asymptomatic renal pelvic dilatation and asymptomatic kidney ectopia [6]. Thus, ultrasound should be performed in these infants early in life and, if abnormal, a MCU to rule out any urological abnormality.…”

Section: Discussion and Brief Reviewmentioning

confidence: 99%

“…The incidence of renal and urological involvement in DS is high enough to encourage systematic screening [6]. A variety of renal involvement in DS have been described, including ureteropelvic junction obstruction, vesicoureteral reflux, renal hypoplasia, obstructive uropathy and posterior urethral valves hypospadias, asymptomatic renal pelvic dilatation and asymptomatic kidney ectopia [6].…”

Section: Discussion and Brief Reviewmentioning

confidence: 99%

Down Syndrome with End-Stage Renal Disease

et al. 2013

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Down syndrome is one of the most common genetic causes of learning disabilities in children. Although the incidence of renal and urological involvement in Down syndrome is not very common, monitoring of patients with Down syndrome for renal diseases should be done regularly as patient's age into the second and third decades. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Down syndrome patients are apparently not suited for peritoneal dialysis because of lacking cooperation. This procedure can be prone to failure, mainly because of an increased risk of peritonitis. Handling such patients especially those on peritoneal dialysis is challenging. Here we report a case of Down syndrome with end-stage renal disease treated with hemodialysis for 6 months. To the best of our knowledge and current literature review this is the first case report of a patient with Down syndrome undergoing hemodialysis.

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“…2,[9][10][11] In Brazil, 300,000 people have DS 12 and it is estimated that one case of DS occurs in every 600 to 800 births, 13 about 8,000 cases per year, which may or may not be associated with comorbidities such as cardiac, gastrointestinal, respiratory, renal and urogenital (cryptorchidism and hypospadias) malformations, hypothyroidism, leukemia, Alzheimer's disease, and more. [14][15][16][17][18][19][20] Multiple congenital malformations related to DS include urogenital ones, so that cryptorchidism and hypospadias have been reported. 20,21 It is suspected that the lifestyle of mothers and environmental exposures during pregnancy may interfere with the normal testicular descent, increasing the risk of urogenital malformations.…”

Section: Introductionmentioning

confidence: 99%

“…20,21 It is suspected that the lifestyle of mothers and environmental exposures during pregnancy may interfere with the normal testicular descent, increasing the risk of urogenital malformations. [19][20][21][22] The aims of our study were to evaluate the prevalence of cryptorchidism and its association with parental smoking in patients with Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

Smoking and its association with cryptorchidism in Down syndrome

Duarte

Júnior

Mrad

et al. 2017

Rev. Assoc. Med. Bras.

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Introduction:Cryptorchidism is a common and prevalent condition in patients with Down syndrome. Environmental factors, such as smoking, can be associated with malformations during fetal development. The study of the prevalence of cryptorchidism and its association with parental tobacco use in Down syndrome can contribute to alert health care professionals, patients and family members regarding the prevention of the harms caused by cryptorchidism and its possible predisposing factors. Objective: To evaluate the prevalence of cryptorchidism in Down syndrome and its association with maternal and paternal smoking. Method: Forty (40) patients of a public clinic specialized in Down syndrome were evaluated, using a semi-structured questionnaire for evaluation of antecedents and sociodemographic characteristics, as well as physical and complementary examinations. Results: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96). Of these, 55% (5/9) were the children of mothers who smoked during pregnancy, and 19.35% (6/31) were the children of mothers who did not smoke during pregnancy (OR = 5.26 [95CI 1.06-25.41]; p=0.032). Similarly, paternal smoking was also observed in greater frequency among the parents of cryptorchid patients compared with subjects with descended testis, 63.36% (7/11) and 31.03% (9/29), respectively (OR = 3.89 .73]; p=0.060). Conclusion:The prevalence of cryptorchidism is high in patients with Down syndrome. We can show a strong association between smoking parents and the occurrence of cryptorchidism, especially when it comes to maternal smoking.

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Urological Manifestations of Down Syndrome

Abstract: Improved understanding and identification of the various urological anomalies associated with Down syndrome will aid in the care of these patients. In addition, an awareness of perioperative issues will further facilitate a smooth clinical course.

Cited by 62 publications

References 38 publications

Evaluation of Structural Anomalies of Kidney and Urinary Tract in Children with Down Syndrome

Evaluation of Structural Anomalies of Kidney and Urinary Tract in Children with Down Syndrome

Down Syndrome with End-Stage Renal Disease

Smoking and its association with cryptorchidism in Down syndrome

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