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

Item Type:Article
Title:Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
Creators Name:Langen, H. and von Kietzell, D. and Byrd, D. and Arslan-Kirchner, M. and Vester, U. and Stuhrmann, M. and Doerk, T. and Saar, K. and Reis, A. and Schmidtke, J. and Brodehl, J.
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.
Keywords:Tubular Amino Acid Reabsorbtion, Renal Polyamine Excretion, SLC3A1 Mutation Analysis, Genetic Localization Of Non-Type I Cystinuria
Source:Pediatric Nephrology
ISSN:0931-041X
Publisher:Springer (U.S.A.)
Volume:14
Number:5
Page Range:376-384
Date:April 2000
Official Publication:https://doi.org/10.1007/s004670050778
PubMed:View item in PubMed

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