{Reference Type}: Journal Article
{Title}: Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
{Author}: Ranganath LR;Khedr M;Norman BP;Hughes JH;Imrich R;Arnoux JB;Olsson B;Rudebeck M;Gallagher JA;Bou-Gharios G;
{Journal}: Mol Genet Metab Rep
{Volume}: 40
{Issue}: 0
{Year}: 2024 Sep
{Factor}: 2.082
{DOI}: 10.1016/j.ymgmr.2024.101097
{Abstract}: <B>UNASSIGNED: </B>Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.<BR><B>UNASSIGNED: </B>Patients attending the United Kingdom National Alkaptonuria Centre (NAC) and the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) study were studied. Assessments included questionnaires eliciting details of arthroplasty. Nitisinone was administered from baseline, 2 mg in the NAC and 10 mg in SONIA 2. In SONIA 2, subgroups consisted of those with baseline arthroplasty on and not on nitisinone (BR + N+, BR + N-), as well as those without baseline arthroplasty on and not on nitisinone (BR-N+, BR-N-).<BR><B>UNASSIGNED: </B>In the SONIA2 subgroups, new joint replacement (JR) probabilities after baseline were significantly different (BR + N+, BR + N-, BR-N+, BR-N-) (χ2 = 23.3, p < 0.001); mean (SD) was 3.8 (0.1) years in BR-N-, 3.7 (0.1) years in BR-N+, 3.4 (0.3) years in BR + N-, and 3.0 (0.3) years in BR + N+. Further, the BR + N- showed more JR than the BR-N- subgroup (p < 0.01), while BR + N+ similarly showed more JR than the BR-N+ subgroup (p < 0.001).In the NAC, the BR- group had a mean age of 51.6 (7.0) years at baseline but 57.7 (8.7) years at final follow up during nitisinone therapy and showed only 7 incident JR. The BR+ group had an age at baseline of 57.4 (8.5) years and had undergone 94 JRs at baseline.<BR><B>UNASSIGNED: </B>The incidence of arthroplasty was earlier and more frequent after the first JR and was not affected by nitisinone.