AI Article Synopsis
- A clinical case illustrates how the antenatal diagnosis of cystinuria uncovered a more complex condition involving renal Fanconi syndrome, hypoglycemia, and liver issues.
- Genetic testing revealed a specific variant linked to the disease, suggesting that ultrasound markers may indicate more severe underlying problems, prompting a reevaluation of genetic counseling for expecting families.
Article Abstract
Cystinuria is a recessively inherited genetic disease causing recurrent kidney stones with risk of kidney failure. The discovery of hyperechoic colonic content on an antenatal ultrasound is considered to be a pathognomic sign of cystinuria. Herein, we present a clinical case with antenatal diagnosis of cystinuria in an ultrasound finding, which eventually revealed a multisystem disease, characterized by the association of renal Fanconi syndrome, hyperinsulinemic hypoglycemia, and hepatic dysfunction. Genetic investigations evidenced the recurrent heterozygous missense (p.Arg76Trp) variant. Our case report shows that antenatal hyperechoic colonic content can hide a complex proximal renal tubulopathy, and questions the genetic counseling provided to families in the antenatal period.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905345 | PMC |
| http://dx.doi.org/10.3389/fped.2021.822114 | DOI Listing |
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