Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Digby, Elizabeth L.; Liauw, Jessica; Dionne, Janis M.; Langlois, Sylvie; Nikkel, Sarah M.

doi:10.1002/pd.5883

Cited by 18 publications

(42 citation statements)

References 25 publications

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“…The latter would logically include important disorders such as congenital nephrotic syndrome [ 48 ], functional kidney tubule diseases presenting before birth [ 49 ], and prenatal kidney vein thrombosis [ 50 ]. Moreover, even with respect to gross structural malformations, Yerkes et al [ 8 ] and Nishimura et al [ 10 ] did not include the polycystic kidney diseases presenting before birth with enlarged kidneys [ 51 , 52 ].…”

Section: A Question Of the Meaning Of The Words That Make Up Cakutmentioning

confidence: 99%

The term CAKUT has outlived its usefulness: the case for the prosecution

Woolf

2022

Pediatr Nephrol

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CAKUT stands for Congenital Anomalies of the Kidney and Urinary Tract, and the acronym first appeared in a review article published in 1998. Since then, CAKUT has become a familiar term encountered in the medical literature, especially in nephrology journals. I reason that the term CAKUT was conceived as not a simple description of various diseases, but more as shorthand for a bold conceptual package that linked the occurrence of diverse types of anatomical malformations with insights from genetic and developmental biology research. Moreover, the angiotensin II receptor type 2 was seen as a paradigmatic molecule in the pathobiology of CAKUT. I contend that the acronym, while appearing as an intellectually good idea at the time it was conceived, has outlived its usefulness. To reach these conclusions, I focus on the complex of research observations that led to the theory behind CAKUT, and then question whether these scientific foundations still stand firm. In addition, it is noted that not all clinicians have adopted the acronym, and I speculate why this is the case. I proceed to demonstrate that there is an incompatibility between the semantic meaning of CAKUT and the diseases for which the term was originally conceived. Instead, I suggest the acronym UTM, standing for Urinary Tract Malformation, is a simpler and less ambiguous one to use. Finally, I contend that the continued use of the acronym is a regressive step for the disciplines of nephrology and urology, taking us back two centuries when all kidney diseases were simply called Bright’s disease.

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Section: A Question Of the Meaning Of The Words That Make Up Cakutmentioning

confidence: 99%

The term CAKUT has outlived its usefulness: the case for the prosecution

Woolf

2022

Pediatr Nephrol

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“…If prenatal testing excludes genetic causes (i.e., all cytogenetic abnormalities, ARPKD, ADPKD, HNF1B-related disorder, tubular dysgenesis, and familial nephroblastoma), short-term renal outcomes may be normal in the majority of isolated HK cases. 20 In one study, fetuses with isolated HK and normal AF levels were found to have normal renal outcomes in infancy. 21 However, the long-term renal outcomes in such cases remain unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Isolated fetal HK is aetiologically a heterogeneous condition, and both inherited and non‐inherited aetiologies have been identified. If prenatal testing excludes genetic causes (i.e., all cytogenetic abnormalities, ARPKD, ADPKD, HNF1B ‐related disorder, tubular dysgenesis, and familial nephroblastoma), short‐term renal outcomes may be normal in the majority of isolated HK cases 20 . In one study, fetuses with isolated HK and normal AF levels were found to have normal renal outcomes in infancy 21 .…”

Section: Discussionmentioning

confidence: 99%

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

Liu

et al. 2022

Prenatal Diagnosis

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Objectives: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). Methods:Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA-negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non-isolated cases) were determined and compared.Results: CMA detected chromosomal abnormalities in 78 of 577 fetuses (13.52%).WES detected monogenic variants in 31 of 160 fetuses (19.38%) that had nondiagnostic CMA results. In cases of isolated hyperechogenic kidney, polycystic kidney disease, and multicystic dysplastic kidney, the detection rates of copy number variants (CNVs) by CMA and monogenic variants by WES were not significantly different (p > 0.05). However, monogenic variants were more frequently detected than CNVs when kidney abnormalities were accompanied by reduced amniotic fluid (p < 0.05). Other renal abnormalities identified on prenatal ultrasound had different detection rates. Conclusions:Our findings contribute to the overall knowledge of genetic variants associated with prenatally identified renal anomalies and may aid in decision making regarding prenatal genetic testing options for affected pregnancies. Key pointsWhat's already known about this topic?� Fetal renal abnormalities are some of the common and most easily detectable anomalies on ultrasound. The disease has a wide range of prenatal phenotypes with distinct prognoses and etiologies. Studies have shown that fetal renal abnormalities may be related to certain genetic disorders or syndromes. However, one of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype-phenotype correlation.

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“…The pooled data from a systematic review indicate that HNF1B variants are the most common genetic causes associated with hyperechogenic kidneys [Clissold et al, 2015]. Digby et al [2021] reported that genetic etiologies (autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, Bardet-Biedl syndrome, HNF1B-related disorder, Beckwith-Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for proximately half of prenatally detected isolated hyperechogenic kidneys. Since hyperechogenic fetal kidneys may have varied genetic etiologies, ES is more efficient in fetal genetic analyses compared to other routine diagnostic methods on a tight time frame.…”

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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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Cited by 18 publications

References 25 publications

The term CAKUT has outlived its usefulness: the case for the prosecution

The term CAKUT has outlived its usefulness: the case for the prosecution

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

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

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