ArticlePediatric nephrology (Berlin, Germany)2018
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- Iron and Other Metal Ions in Human Health and Disease.MedComm · 2026Review
- Phosphate transporters, candidate genes, and the prosecutor's fallacy.Pediatric nephrology (Berlin, Germany) · 2025Article
- Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis.Frontiers in pediatrics · 2025Article
- Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.Pediatric nephrology (Berlin, Germany) · 2024Article
- Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant inClinical case reports · 2024Article
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?Pediatric radiology · 2024Article
- Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.Human genetics · 2023Review
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
- Overlapping Phenotypes Associated WithFrontiers in endocrinology · 2021Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
- Mechanisms of phosphate transport.Nature reviews. Nephrology · 2019Review
- Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.Pflugers Archiv : European journal of physiology · 2019Review
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9 authors at 5 institutions in 1 country.
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Abstract
backgroundPrenatal 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.
methodsWe report on three cases of fetal hyperechogenic kidneys corresponding to postnatal diagnosis of nephrocalcinosis. In all cases, antenatal ultrasound showed hyperechogenic kidneys of normal to large size from 22 gestational weeks, with a normal amount of amniotic fluid. Postnatal ultrasound follow-up showed nephrocalcinosis associated with hypercalcemia, hypercalciuria, elevated 1,25(OH)
resultsMolecular genetic analysis by next-generation sequencing performed after birth in the three newborns revealed biallelic pathogenic variants in the SLC34A1 gene, encoding the sodium/phosphate cotransporter type 2 (Npt2a), confirming the diagnosis of infantile hypercalcemia.
conclusionsNephrocalcinosis due to infantile hypercalcemia can be a cause of fetal hyperechogenic kidneys, which suggests early antenatal anomaly of calcium and phosphate metabolism. This entity should be considered in differential diagnosis. Postnatal follow-up of infants with hyperechogenic kidneys should include evaluation of calcium and phosphate metabolism.
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