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Clinical Chemistry 53: 149-150, 2007; 10.1373/clinchem.2007.080705
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(Clinical Chemistry. 2007;53:149-150.)
© 2007 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Antenatal Biochemical Expression of Cystinuria and Relation to Fetal Hyperechogenic Colon

Jean-François Benoist1,a, Apolline Imbard1, Sophie Dreux1, Catherine Garel2, Georges Haddad3, Méderic Hoffet4, Daniel Biou1 and Françoise Muller1,5

1 Biochimie-Hormonologie
2 Radiologie, Hôpital Robert Debré, Paris, France
3 Gynecologie Obstetrique, CHU Bretonneau, Tours, France
4 Gynécologie-Obstétrique, CHU Caremeau, Nîmes, France
5 Biochimie, Université Paris, Ile de France Ouest, Paris, France

aAddress correspondence to this author at: Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, 48 boulevard Sérurier, 75019 Paris, France.

The first 20% of the full text of this article appears below.


To the Editor:

Cystinuria is an inherited disorder characterized by impaired apical transport of cystine and dibasic amino acids (e.g., ornithine, lysine, and arginine) in the renal proximal tubule and the small intestine epithelia. The overall estimated prevalence is 1/7000 neonates (1). Because of impaired renal cystine reabsorption, cystine precipitates and forms calculi that can produce urinary tract obstruction and may lead to renal insufficiency. Cystinuria is responsible for ~10% of all kidney stones observed in children; in ~50% of patients, stones form in the first decade of life. Diagnosis allows introduction of therapy to reduce stone formation and risk of renal impairment. Prenatal biochemical expression of the disease has not been described.

Fetal hyperechogenic small bowel (FHB), an infrequent ultrasound finding (0.1%–1.8% of pregnancies), is associated with severe fetal diseases such as cystic fibrosis and trisomy 21 (2). Even less common is fetal hyperechogenic colon (FHC) in which the hyperechogenicity is strictly limited to the colon. Recently, it has been suggested that FHC could be associated with cystinuria(3).

We . . . [Full Text of this Article]






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Copyright © 2007 by the American Association for Clinical Chemistry.