Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cystinuria

This disease is characterized by kidney stone fomation due to increased renal excretion of the amino acid cystein. The stones are made of cystine.

Epidemiology

The Cystinurie is one of the most frequent hereditary diseases.The frequency is indicated in our population as 1:7000.

Test Strategy

The Cystinuria can be mesured in quantitatively. Kidney stones should be investigated. If there something indicates for cystinuria a genetic test can be performed.

Pathogenesis

The filtered amino acid could not be reabsorbed adequately because of a defect in the transporter of dibasic amino acids.

Symptoms

Crystalluria
Cystein crystals show the typical form of a hexagon (benzene ring) of pale yellow color.

Systematic

Urolithiasis
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
Dihydroxyadenin urolithiasis
Nephrocalcinosis
Nephrolithiasis diarrhea syndrome
Susceptibility to nephrolithiasis
Uric acid nephropathy

References:

1.

de Sanctis L et al. (2001) Cystinuria phenotyping by oral lysine and arginine loading.

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2.

Schmidt C et al. (2003) Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

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3.

Rosenberg LE et al. (1966) Cystinuria: biochemical evidence for three genetically distinct diseases.

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4.

OMIM.ORG article

Omim 220100 [^]
5.

Orphanet article

Orphanet ID 214 [^]
6.

Wikipedia article

Wikipedia EN (Cystinuria) [^]
Update: May 9, 2019