Bilateral fetal hyperechogenic kidneys associated with normal amniotic fluid: an ethical dilemma in a normal variant?

Guerriero, S.; Gerada, M.; Piras, S.; Ajossa, Silvia; Ottonello, Giuseppe; Masnata, Giuseppe; Melis, Gian Benedetto

doi:10.1002/pd.1377

Cited by 3 publications

(5 citation statements)

References 4 publications

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Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of echogenic kidneys comprises clinical dilemma regarding counseling of the future parents, especially in presence of a normal amniotic fluid amount and normal CMD, in which a normal renal function is usually expected in the neonate. [12][13][14][15] Recently, Jones et al 12 reported two families presenting with prenatally detected hyperechogenic kidneys and postnatally diagnosed with 17q12 microdeletion syndrome. In their review, a diagnosis of 17q12 deletion with documented prenatal findings was reported in 25 cases (14 publications).…”

Section: Discussionmentioning

confidence: 99%

“…The linkage between diagnosis of renal cortical hyperechogenicity and/or cysts leading to the diagnosis of 17q12 deletions and afterwards to the diagnosis of autism spectrum disorders (ASDs) was described in adults . However, data regarding prenatal correlation between the unique and rare finding of normal‐sized cortical fetal echogenic kidneys and anomalies of the TCF‐2 gene are scarce …”

Section: Introductionmentioning

confidence: 99%

“…12 However, data regarding prenatal correlation between the unique and rare finding of normal-sized cortical fetal echogenic kidneys and anomalies of the TCF-2 gene are scarce. 13,14 We describe herein our experience with prenatal diagnosis of 17q12 syndromefrom renal sonographic findings to molecular diagnosis of 17q12 microdeletion and early diagnosis of neurodevelopmental disorders, mainly ASD.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

et al. 2016

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“…The prenatal counseling is challenging. Although most of time renal hyperechogenicity is indicative of renal parenchymal disease with possible impaired renal function after birth, in some cases, it represents a normal variant [Mashiach et al, 2005;Guerriero et al, 2006;Shuster et al, 2019]. Such abnormal echogenicity can be the early sign of multiple microscopic cysts, dysplasia, or tubular dilatation.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing

Yu¹,

Jing²,

Li³

2022

Mol Syndromol

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Introduction: HNF1B-associated diseases are a group of genetic conditions that affect the kidney as well as other organ systems. Kidney anomalies are the most common symptoms. Other defects may include early-onset diabetes, genital abnormalities, and abnormalities of pancreas and liver function. Renal involvement has emerged as the earliest finding in HNF1B disease, even in prenatal life, with the most common feature being hyperechogenic kidneys. Case Presentation: In this study, we present 3 fetuses with bilateral renal hyperechogenicity identified by ultrasound in the second trimester. No pathogenic copy number variations were revealed by amniocentesis with chromosomal microarray analysis (CMA). Heterozygous variants in HNF1B were detected in all 3 fetuses by further investigation with exome sequencing (ES). Two pregnancies were terminated, and one was continued to term. Discussion and Conclusion: Because of the known high frequency of HNF1B aberrations in fetal hyperechogenic kidneys, HNF1B screening should be an integral part of prenatal diagnosis for such fetuses. ES should be recommended following or concurrently with CMA for rapid prenatal detection. The ES results would improve the diagnostic yield and are beneficial in guiding counseling and management.

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Glomerulocystic Kidney: One Hundred–Year Perspective

Lennerz¹,

Spence²,

Iskandar³

et al. 2010

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney (GCK) refers to a kidney with greater than 5% cystic glomeruli. Although usually a disease of the young, GCK also occurs in adults. Objective.—To assess the recent molecular genetics of GCK, review our files, revisit the literature, and perform in silico experiments. Data Sources.—We retrieved 20 cases from our files and identified more than 230 cases published in the literature under several designations. Conclusions.—Although GCK is at least in part a variant of autosomal dominant or recessive polycystic kidney disease (PKD), linkage analysis has excluded PKD-associated gene mutations in many cases of GCK. A subtype of familial GCK, presenting with cystic kidneys, hyperuricemia, and isosthenuria is due to uromodullin mutations. In addition, the familial hypoplastic variant of GCK that is associated with diabetes is caused by mutations in TCF2, the gene encoding hepatocyte nuclear factor–1β. The term GCK disease (GCKD) should be reserved for the latter molecularly recognized/inherited subtypes of GCK (not to include PKD). Review of our cases, the literature, and our in silico analysis of the overlapping genetic entities integrates established molecular-genetic functions into a proposed model of glomerulocystogenesis; a classification scheme emerged that (1) emphasizes the clinical significance of glomerular cysts, (2) provides a pertinent differential diagnosis, and (3) suggests screening for probable mutations.

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Bilateral fetal hyperechogenic kidneys associated with normal amniotic fluid: an ethical dilemma in a normal variant?

Cited by 3 publications

References 4 publications

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing

Glomerulocystic Kidney: One Hundred–Year Perspective

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