Affiliations: Coburg Medical Center, Department of Pediatrics,
Coburg, Germany
Note: [] Corresponding author: Peter Dahlem, Coburg Medical Center,
Department of Pediatrics, Ketschendorferstr. 33, 96450 Coburg, Germany. Tel.:
+49 95 6122 5551; Fax: +49 95 6122 5552; E-mail: PDahlem@hotmail.com
Abstract: Metabolic stone disease is the leading etiology in children with
urolithiasis. Ten percent of these cases are caused by cystinuria. In the last
decades the genetic origin of cystinuria was clearly defined with two major
gene defects in the SALC3A1 gene on chromosome 2 and in the SLC7A9 gene on
chromosome 19. As a consequence the reabsorption of dibasic amino acid cystine
in the proximal renal tubules is disturbed. Renal colics caused by urolithiasis
in the adolescent patient represent the classical clinical picture. Diagnosis
is made by quantitative determination of amino acids in 24 h urine sampling
with elevated excretion of the cystine. Treatment includes dilution and
alkalinization of urine in mild cases and pharmacotherapy with
D-penicillinamine and Alpha-mercaptopropionylglycine in severe cases. In the
future, new approaches such as the antisense technology will open a new
therapeutic gate.
Keywords: Urolithiasis, cystinuria, genetic disorder, children