Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys
| Autor: | Joost P. Schanstra, Séverine Clauin, Jacqueline Aziza, Flavio Bandin, Christine Bellanné-Chantelot, Sandrine Beaufils, Olivier Parant, Cécile Guillou, Stéphane Decramer, Sylvie Kessler |
|---|---|
| Přispěvatelé: | Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Service de diagnostique prénatal, CHU Toulouse [Toulouse]-Hôpital Paule de Viguier, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de foetopathologie, CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Simon, Marie Francoise, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service Obstétrique [CHU Toulouse], Pôle Femme-Mère-Couple [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service Anatomie et cytologie pathologiques [CHU Toulouse], Pôle Biologie [CHU Toulouse] |
| Rok vydání: | 2007 |
| Předmět: |
Male
Parents MESH: Kidney Diseases Cystic Nephrology Pathology 030232 urology & nephrology Oligohydramnios MESH: Abortion Eugenic MESH: Oligohydramnios MESH: Pregnancy 0302 clinical medicine Pregnancy 0303 health sciences Kidney MESH: Infant Newborn MESH: Ultrasonography Prenatal General Medicine Kidney Diseases Cystic 3. Good health Fetal Diseases Phenotype MESH: Fetal Diseases medicine.anatomical_structure Female Abortion Eugenic Glomerular Filtration Rate medicine.medical_specialty Urinary system Renal function MESH: Phenotype Ultrasonography Prenatal 03 medical and health sciences Internal medicine medicine Humans MESH: Hepatocyte Nuclear Factor 1-beta Hepatocyte Nuclear Factor 1-beta 030304 developmental biology MESH: Parents Fetus MESH: Humans business.industry Infant Newborn medicine.disease MESH: Male MESH: Glomerular Filtration Rate MESH: Gene Deletion Hepatocyte Nuclear Factor 1-Beta business MESH: Female Gene Deletion |
| Zdroj: | Journal of the American Society of Nephrology Journal of the American Society of Nephrology, American Society of Nephrology, 2007, 18 (3), pp.923-33. ⟨10.1681/ASN.2006091057⟩ Journal of the American Society of Nephrology, 2007, 18 (3), pp.923-33. ⟨10.1681/ASN.2006091057⟩ |
| ISSN: | 1046-6673 1533-3450 |
| DOI: | 10.1681/asn.2006091057 |
| Popis: | International audience; 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-1beta 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|