Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-04

AUTHORS

H. Langen, D. von Kietzell, D. Byrd, M. Arslan-Kirchner, U. Vester, M. Stuhrmann, T. Dörk, K. Saar, A. Reis, J. Schmidtke, J. Brodehl

ABSTRACT

Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine. lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport. In the present study phenotypes were assessed by the urinary excretion of amino acids related to creatinine, the percentage tubular amino acid reabsorption and the urinary excretion of polyamines as a possible indicator of the intestinal transport defect. However, our thorough phenotyping did not reveal more than two cystinuria types. Genotypes were examined in linkage analyses and single-strand conformation polymorphism-based mutation identification. The SLC3A1 mutations M467T and T216M were disease causing in our homozygous patients of type I cystinuria. We can show the association of type I cystinuria with SLC3A1 and of non-type I cystinuria with a yet unidentified gene on chromosome 19q13.1. Our phenotype and genotype analyses provide evidence for only two types of cystinuria in the investigated patient cohort. More... »

PAGES

376-384

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004670050778

DOI

http://dx.doi.org/10.1007/s004670050778

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007300240

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10805464


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