2017
DOI: 10.1016/j.arcped.2017.07.014
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Atteintes rénales de la trisomies 21

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Cited by 11 publications
(10 citation statements)
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“…Although a variety of urological abnormalities and glomerulopathies have been report in children with DS, no specific glomerulopathy has been associated.However, some autopsy studies in patients with DS found typical findings such as glomerular microcysts, tubular dilation and immature glomeruli 123. Metabolic abnormalities such as hyperuricosuria and hypercalciuria have been noted 122. The prevalence of chronic renal failure has been reported at 4.5% 122.…”
mentioning
confidence: 99%
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“…Although a variety of urological abnormalities and glomerulopathies have been report in children with DS, no specific glomerulopathy has been associated.However, some autopsy studies in patients with DS found typical findings such as glomerular microcysts, tubular dilation and immature glomeruli 123. Metabolic abnormalities such as hyperuricosuria and hypercalciuria have been noted 122. The prevalence of chronic renal failure has been reported at 4.5% 122.…”
mentioning
confidence: 99%
“…Metabolic abnormalities such as hyperuricosuria and hypercalciuria have been noted 122. The prevalence of chronic renal failure has been reported at 4.5% 122. Cases of end-stage renal failure have been documented 122.…”
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confidence: 99%
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“…54 Posterior urethral valves, pyelectasis, megaureters, are within the array of CAKUT abnormalities that can be associated with Trisomy 21. 56 Very rarely, other chromosome abnormalities, such as trisomy of chromosome 11 or partial duplication of chromosome 6 have been associated with UTD, however, data is limited to case reports. 57 Thus, the early detection of posterior urethral valves warrants genetic counseling referral, offering diagnostic testing, CMA, possible molecular testing or trio WES if available, and further workup as suspected by prenatal ultrasound findings.…”
Section: Lower Urinary Tract Obstruction (Luto) or Fetal Megacystismentioning
confidence: 99%
“…The finding of UTD is a marker for trisomy 21 with a likelihood ratio of 1.5 and counseling about this information is recommended. 56 The clinical phenotypes of urinary tract dilation vary, ranging from inconsequential (most common) to severe obstructive disease (rare). Severe obstructive disease accounts for one third of all cases of pediatric ESRD.…”
Section: Urinary Tract Dilationmentioning
confidence: 99%