JIMD Reports, Volume 25

Mari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, Laura M. Tanner, Kärki, Mari, Näntö-Salonen, Kirsti, Niinikoski, Harri, Tanner, Laura M.

Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acids. It has previously been shown that approximately one third of the Finnish LPI patients have impaired renal function. The aim of this study was to analyse in detail urine beta2-microglobulin values, renal dysfunction, oral L-citrulline doses and plasma citrulline concentrations in Finnish LPI patients. Of the 41 Finnish LPI patients, 56% had proteinuria and 53% hematuria. Mean plasma creatinine concentration was elevated in 48%, serum cystatin C in 62%, and urine beta2-microglobulin in 90% of the patients. Seventeen per cent of the patients developed ESRD, and five of them received a kidney transplant. L-citrulline doses and fasting plasma citrulline concentrations were similar in adult LPI patients with decreased and normal GFR (mean ± SD 79.5 ± 29.2 vs. 82.4 ± 21.9 mg/kg/day, P = 0.619, and 80.3 ± 20.1 vs. 64.8 ± 23.0 μmol/l, P = 0.362, respectively). Urine beta2-microglobulin is a sensitive early marker of renal involvement, and it should be monitored regularly in LPI patients. Weight-based oral L-citrulline doses and plasma citrulline concentrations were not associated with renal function. LPI patients with ESRD were successfully treated with dialysis and kidney transplantation.