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Article Dans Une Revue Pediatric Nephrology Année : 2018

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Résumé

Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound associated with the development of next-generation sequencing for molecular analysis have enlarged the spectrum of etiologies, making antenatal diagnosis a very challenging discipline. Of the various known causes of hyperechogenic fetal kidneys, calcium and phosphate metabolism disorders represent a rare cause. An accurate diagnosis is crucial for providing appropriate genetic counseling and medical follow-up after birth.
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hal-02392766 , version 1 (04-12-2019)

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Marguerite Hureaux, Arnaud Molin, Nadine Jay, Anne Hélène Saliou, Emmanuel Spaggiari, et al.. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations. Pediatric Nephrology, 2018, 33 (10), pp.1723-1729. ⟨10.1007/s00467-018-3998-z⟩. ⟨hal-02392766⟩
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