Phenotype-Genotype Correlation of Young Asian Children With Cystinuria and Transient Neonatal Cystinuria

Wun-Fung Hui ； Chi-Chung Shek ； Winnie Kwai-Yu Chan

《Acta Nephrologica》 32卷1期 (2018/03) Pp. 36-41

https://doi.org/10.6221/AN.201803_32(1).0006

摘要

We reported the clinical and biochemical features, and the results of genetic analysis in six young children with cystinuria and transient neonatal cystinuria (TNC) from Hong Kong. There were four male patients and the median age of presentation was 7.5 months (range: 1-48 months). All three asymptomatic infants with TNC were diagnosed during metabolic screening at 1 month old and all of them showed reduction of urinary cystine excretion over two years. Two out of three children with cystinuria presented with urinary stone and related complications. The median urinary cystine level was 430 μmol/mmoL creatinine. Family screening showed elevated urinary cystine excretion in parents of three children and a sibling of one child. Concerning the genetic analysis, the two children with urolithiasis both harboured compound heterozygous mutations in the SLC3A1 gene. Among the two infants with TNC, one had a de novo mutation in the SLC7A9 gene and the other had no mutation identified. Clinical and biochemical features may not provide enough information to predict the natural history of disease.

關鍵字

cystinuria ； children ； cystine ； neonates ； urolithiasis