Fetal serum ß2‐microglobulin and cystatin C in the prediction of post‐natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

Müller, Françoise; Dreux, Sophie; Audibert, François; Chabaud, Jean-Jacques; Rousseau, Thierry; D’Hervé, Dominique; Dumez, Yves; Ngo, Sandrine; Gubler, Marie–Claire; Dommergues, Marc

doi:10.1002/pd.866

Cited by 49 publications

(44 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Besides reporting for the first time the presence of a high prevalence of TCF2 gene anomalies in antenatal hyperechogenic kidneys, we confirm the typical in utero presentation of ARPKD with enlarged hyperechogenic kidneys Ͼ2 SD with loss of corticomedullary differentiation, presumably as a result of the numerous small cysts that are undetectable by ultrasound and the constant decrease in amniotic fluid volume (1,2,21). These characteristics resulted in TOP in 10 of 12 cases and one neonatal death in our cohort.…”

Section: Discussionsupporting

confidence: 60%

“…Several data showed that enlargement of the kidneys Ͼ2 SD and severe oligohydramnios are predictive markers of poor renal function (1,2). However, the postnatal prognosis of renal dysplasia with normal amniotic fluid is very difficult to predict (35,36).…”

Section: Discussionmentioning

confidence: 99%

“…This marker is validated only in bilateral uropathies, bilateral renal hypoplasia, and dysplasia (2).…”

Section: Discussionmentioning

confidence: 99%

“…Fetal renal failure was defined when the fetal serum ␤2-microglobulin concentration was Ͼ5 mg/L and considered severe when the level was Ͼ7 mg/L (2,26). Termination of pregnancy (TOP) was conducted after parental request in cases with severe oligohydramnios or when the kidney size was Ͼ2 SD with an elevated fetal serum ␤2-microglobulin concentration.…”

Section: Patientsmentioning

confidence: 99%

“…For less severely affected patients, the long-term outcome is difficult to predict, and no appropriate fetal analysis is able to predict the longterm renal function. Abnormal fetal serum ␤2-microglobulin and cystatin C values are associated with poor postnatal renal function, but normal values do not exclude postnatal renal failure (2).…”

mentioning

confidence: 99%

See 4 more Smart Citations

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Decramer

Parant

Beaufils³

et al. 2007

Journal of the American Society of Nephrology

227

194

View full text Add to dashboard Cite

Prenatal discovery of fetal bilateral hyperechogenic kidneys is very stressful for pregnant women and their family, and accurate diagnosis of the cause of the moderate forms of this pathology is very difficult. Hepatocyte nuclear factor-1␤ that is encoded by the TCF2 gene is involved in the embryonic development of the kidneys. Sixty-two pregnancies with fetal bilateral hyperechogenic kidneys including 25 fetuses with inaccurate diagnosis were studied. TCF2 gene anomalies were detected in 18 (29%) of these 62 patients, and 15 of these 18 patients presented a complete heterozygous deletion of the TCF2 gene. Family screening revealed de novo TCF2 anomalies in more than half of the patients. TCF2 anomalies were associated with normal amniotic fluid volume and normal-sized kidneys between ؊2 and ؉2 SD in all patients except for two sisters. Antenatal cysts were detected in 11 of 18 patients, unilaterally in eight of 11. After birth, cysts appeared during the first year (17 of 18), and in patients with antenatal cysts, the number increased and developed bilaterally with decreased renal growth. In these 18 patients, the GFR decreased with longer follow-up and was lower in patients with solitary functioning dysplastic kidney. Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression. The renal phenotype and the postnatal evolution were extremely variable and need a prospective long-term follow-up. Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary.

show abstract

Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 99%

“…This marker is validated only in bilateral uropathies, bilateral renal hypoplasia, and dysplasia (2).…”

Section: Discussionmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Decramer

Parant

Beaufils³

et al. 2007

Journal of the American Society of Nephrology

227

194

View full text Add to dashboard Cite

show abstract

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

et al. 2018

View full text Add to dashboard Cite

IMPORTANCEPrenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management.OBJECTIVE To provide a clinical practice recommendation for fetal medicine specialists, obstetricians, neonatologists, pediatric nephrologists, pediatricians, and human geneticists by aggregating current evidence and consensus expert opinion on current management of cystic nephropathies before and after birth.METHODS After 8 systematic literature reviews on clinically relevant questions were prepared (including 90 studies up to mid-2016), recommendations were formulated and formally graded at a consensus meeting that included experts from all relevant specialties. After further discussion, the final version was voted on by all members using the Delphi method. The recommendations were reviewed and endorsed by the working groups on inherited renal disorders of the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) and European Society for Paediatric Nephrology (ESPN); the German Society of Obstetrics and Gynecology (DGGG), German Society of Perinatal Medicine (DGPM), and German Society of Ultrasound in Medicine (DEGUM); and the alliance of patient organizations, PKD International. RECOMMENDATIONSThe group makes a number of recommendations on prenatal and postnatal imaging by ultrasound and magnetic resonance imaging, genetic testing, prenatal counseling, in utero therapeutic interventions, and postnatal management of prenatal and neonatal cystic kidney diseases, including provision of renal replacement therapy in neonates. In addition to detailed knowledge about possible etiologies and their prognosis, physicians need to be aware of recent improvements and remaining challenges of childhood chronic kidney disease, neonatal renal replacement therapy, and intensive pulmonary care to manage these cases and to empower parents for informed decision making.

show abstract