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Article

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Clinical genetics - 1 Dec 2017

Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker P-H, Muller F, Benoist J-F

Abstract excerpt

Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC...

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PMID: 28646536
DOI: 10.1111/cge.13079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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