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Case Reports
. 2024 Jul 15;12(7):e8730.
doi: 10.1002/ccr3.8730. eCollection 2024 Jul.

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report

Osaretin Pamela Aigbogun  1 , Noémie Vancoppenolle  1 , Sandra Coppens  2 , Martina Marangoni  2 , Elodie Elsen  1 , Marie Cassart  1   3 , Caroline Gounongbe  1
Affiliations
Case Reports

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report

Osaretin Pamela Aigbogun et al. Clin Case Rep. .

Abstract

Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9-related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.

Keywords: cystinuria; genetic counseling; nephropathies; prenatal diagnosis.

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Conflict of interest statement

None declared.

Figures

FIGURE 1
FIGURE 1
Sagittal US scans of the left (A) and right (B) kidneys at 21 weeks and 6 days of gestation showing bilateral hyperechogenic nondifferentiated kidneys of normal size.
FIGURE 2
FIGURE 2
Sagittal US scan of the left kidney at 36 weeks of gestation showing the apparition of a cortico‐medullary differentiation. Notice the normal colonic content (arrow).
FIGURE 3
FIGURE 3
Postnatal renal ultrasound of the left kidney performed at 1 month of age with a high frequency probe showing hyperechogenic intra‐pyramidal deposits that may correspond to intratubular cystine deposits (arrow).
See this image and copyright information in PMC

References

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