Diagnostic anténatal des reins hyperéchogènes : à propos de 17 cas

Emmanuelli, V.; Lahoche-Manucci, A.; Holder‐Espinasse, Muriel; Devisme, Louise; Vaast, P.; Dieux-Coëslier, Anne; Dehennault, Maud; Petit, S.; Besson, R.; Houfflin‐Debarge, V.

doi:10.1016/j.jgyn.2010.07.012

Cited by 16 publications

(31 citation statements)

References 26 publications

(23 reference statements)

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“…(D)Etiologies of nonisolated fetal HEK combining our cohort and the published literature, n = 125. Anatomic renal abnormality includes pelvic dilatation, vesicoureteral reflex and renal medullary calcification; ADPKD, adult or autosomal recessive polycystic kidney disease; ARPKD, infantile or autosomal recessive polycystic kidney disease; CAKUT NYD, congenital anomalies of the kidney and urinary tract Not yet diagnosed; HE, hyperechogenicity; HEK, hyperechogenic kidney; T10, trisomy 10; T13, trisomy 13; T21: trisomy 21 7–12,17,18 …”

Section: Resultsmentioning

confidence: 99%

“…follow-up greater than 60 months was limited to nine (9.8%) cases; two (22.2%) of which had abnormal renal function. 7,11 In one case this was eGFR of 74 by 60 months of age 7 and eGFR of 11 with age of onset unclear in the other. 7 There was an additional case with a borderline eGFR of 87.…”

Section: T a B L E 1 Outcomes Etiologies And Renal Follow-up Of Isolmentioning

confidence: 95%

“…Our literature search yielded 116 studies, of which six case series studies were included. 8,[10][11][12]17 These studies included a total of 204 cases of isolated HE. In combining the isolated cases of fetal HEK from both the literature and our data there are a total of 224 cases presented in Figure 1AB.…”

Section: Isolated Casesmentioning

confidence: 99%

“…Etiologies for fetal HEK include aneuploidy, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), other single gene disorders (e.g., Bardet-Biedl syndrome [BBS], Meckel-Gruber syndrome, Ivemark type 2 syndrome, Perlman syndrome, other nephronophthisis), obstructive uropathy, teratogenic exposure, other renal dysplasia, and idiopathic transient HE which resolves postnatally. [4][5][6][7][8][9][10][11][12] Of these, ARPKD, ADPKD and congenital anomalies of the kidney and urinary tract (CAKUT) are the most commonly reported etiologies. In the age of molecular diagnosis, entities such as HNF1B-related disorders may account for a significant proportion of previously undiagnosed cases.…”

Section: Introductionmentioning

confidence: 99%

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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

et al. 2021

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Objectives: To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods: We conducted a retrospective chart review of HEK in British Columbia (January 2013-December 2019) and literature review. Results: We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow-up. Eight had testable genetic etiologies (autosomal dominant polycystic kidney disease [ADPKD], autosomal recessive polycystic kidney disease [ARPKD], Bardet-Biedl syndrome [BBS], and HNF1Brelated disorder). The remaining seven did not have an identifiable genetic etiology. Of cases without a genetic etiology with postnatal follow-up (n ¼ 6) there were no abnormalities of blood pressure, creatinine/estimated glomerular filtration rate or urinalysis identified with follow-up from 2-71 months. We report 11 cases with extrarenal anomalies (nonisolated), with outcomes and etiologies. We identified 224 reported cases of isolated HEK in the literature. A potentially testable genetic etiology was found in 128/224 (57.1%). The neonatal death rate in those with testable etiologies was 17/128 (13.3%) compared to 2/96 (2.1%) when testable etiologies were excluded. Conclusions: Genetic etiologies (ARPKD, ADPKD, BBS, HNF1B-related disorder, Beckwith-Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for approximately half of prenatally isolated HEK; once excluded there are few neonatal deaths and short-term renal outcomes may be normal. There remains a paucity of knowledge about long-term renal outcomes. Key Points What is already known about this topic? � Fetal hyperechogenic kidneys are associated with a wide range of etiologies and outcomes � There is a paucity of evidence regarding long-term renal outcomes What does this study add? � Testable genetic etiologies account for approximately half of cases without other anomalies on prenatal ultrasound � In live births of hyperechogenic kidneys without other anomalies on prenatal ultrasound, if genetic testing excludes select genetic etiologies

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Section: Resultsmentioning

confidence: 99%

Section: T a B L E 1 Outcomes Etiologies And Renal Follow-up Of Isolmentioning

confidence: 95%

Section: Isolated Casesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

et al. 2021

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“…They are mainly divided into autosomal dominant and recessive polycystic kidney disease [4], glomerulocystic kidney disease (Ivermark II syndrome, trisomy 13 and 18, Beemer Syndrome), medullary cystic dysplasia (Bardet-Biedl syndrome, Meckel-Gruber syndrome, Beckwith-Wiedmann syndrome) [5], renal dysplasia, multicystic dysplastic kidneys and congenital infections (e.g., cytomegalovirus and candida). Noteworthy, in none of these diseases, a regression of the nephromegaly or of the hyperechogenic abnormality has been described, as opposed to what was observed in the patient reported here.…”

Section: Discussionmentioning

confidence: 99%

Antenatal nephromegaly and propionic acidemia: a case report

et al. 2017

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BackgroundPropionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far.Case presentationWe report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life. At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA. The renal ultrasound at 8 months of life, after a symptomatic treatment of PA had been initiated, showed a regression of the renal abnormalities.ConclusionThis case describes PA as a novel cause of large and hyperechogenic kidneys in the antenatal period. It suggests that, when confronted to fetal nephromegaly, hyperechogenic kidneys and risk factors of metabolic disease such as consanguineous parents, PA should be considered, and a prenatal test should be proposed.

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