Cystinuria and its treatment: 25 years experience at St. Bartholomew's hospital

Abstract

Cystinuria is an inherited condition affecting the active transport of the diamino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine. The only clinical effect is the production of urinary tract stones and if these can be prevented the affected individuals can lead a normal life. In many people cystine stones can be dissolved and new stone formation prevented by a high fluid intake, but if this does not succeed regular treatment with penicillamine will do so. Although many side-effects have been described with penicillamine treatment it is rare for them to be severe enough to prevent its use in patients with cystinuria. Since the clinical effects of cystinuria can be prevented by either a high fluid intake or by penicillamine it is important to make the diagnosis in affected individuals as soon as possible and cystinuria should therefore be considered in all people (regardless of age) who form urinary stones.

Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale?

“…Cystinuria represents a major medical problem because of stone recurrence and the risk to induce renal failure. Worldwide, its incidence is about 1:7000 births (Stephens, 1989;Barbey et al, 2000). It is the most frequent cause of stone formation among genetic diseases.…”

Plasma d-penicillamine redox state evaluation by capillary electrophoresis with laser-induced fluorescence

“…It is also used as antifibrotic agent to treat scleroderma [7] and as antirheumatic drug to treat patients with active rheumatoid arthritis [8]. d-Pen reduces excess of cystine excretion in cystinuria, another rare inherited disease affecting the active transport of the di-amino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine [9]. Mechanisms of action of d-Pen in mentioned diseases are various.…”

Catechol as an electrochemical indicator for voltammetric determination of D-penicillamine in aqueous media at the surface of carbon paste electrode

“…It is also used as antifibrotic agent to treat scleroderma [7] and as antirheumatic drug to treat patients with active rheumatoid arthritis [8]. D PA reduces excess of cystine excretion in cystinuria, another rare inherited disease affecting the active transport of di amino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine [9]. Mechanisms of action of D PA in men tioned diseases are various.…”