CYSTINE NEPHROLITHIASIS

Cystine nephrolithiasis

Our understanding of the molecular basis of cystinuria has deepened as the result of the causative genes, SLC3A1 and SLC7A9, being identified. The proteins coded for by these genes form a heterodimer responsible for reabsorption of filtered cystine in the proximal tubule. Failure of this transport system to be targeted to the apical membrane, as in the case of SLC3A1 mutations, or failure of th...

Nephrolithiasis: introduction.

Cystine Stones

Cystine stones occur in subjects carrying two autosomal mutant alleles resulting in excessive excretion of cystine, ornithine, arginine and lysine – hence the condition cystinuria. About 1:15–25 000 NSW neonates have been found to have cystinuria, with a gene frequency in Australia calculated to be about 1:4000 individuals. Since these studies were published, the mutant alleles have been identi...

Topiramate-induced nephrolithiasis

Nephrolithiasis is a less common side effect of the antiepileptic drug topiramate. We report the case of a 3-year-old boy who presented to the emergency department with abdominal pain; examinations revealed a large calcification in the left kidney. Regular ultrasound examinations are recommended in children using topiramate.

Pathomechanisms of nephrolithiasis.

Lithiasis continues to be an important factor in chronic renal disease, since it leads to chronic tubulo-interstitial nephritis, which is estimated to be involved in 15- 30% of cases of end stage chronic renal insufficiency. It is believed that in order for a stone to be formed, a solid phase needs to be first produced from microcrystals (the nucleus), which are formed from salts (and other sub...