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

Stéphane Decramer^*,¶, Olivier Parant, Sandrine Beaufils, Séverine Clauin, Cécile Guillou^¶, Sylvie Kessler, Jacqueline Aziza, Flavio Bandin^*,¶, Joost P. Schanstra^* and Christine Bellanné-Chantelot^||

^* Inserm, U858, BP 84225, F-3142, Department of Prenatal Diagnosis, Hôpital Paule de Viguier, Service de Foetopathologie, Hôpital Purpan, and ^¶ Department of Pediatric Nephrology, Hôpital des Enfants, Toulouse, and AP-HP Hôpital Saint Antoine, Department of Molecular Biology, ^|| AP-HP Hôpital Saint Antoine, Department of Cytogenetics, Université Pierre et Marie Curie-Paris, Paris, France

Address correspondence to: Dr. Stéphane Decramer, Department of Paediatric Nephrology, Hôpital des Enfants. Centre de Référence du Sud Ouest des Maladies Rénales Rares, Toulouse, France. Phone: +33-5-34-55-86-64; Fax: +33-5-34-55-86-00; E-mail: decramer.s{at}chu-toulouse.fr

Received for publication September 27, 2006. Accepted for publication December 8, 2006.

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.

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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673